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Gene: Satb2 MGI:2679336

Gene Summary

Name:

special AT-rich sequence binding protein 2

Synonyms:

BAP002

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Satb2^em3(IMPC)Tcp	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Satb2^em3(IMPC)Tcp	HET	Early adult	5.71×10^-10
abnormal uterus morphology	Satb2^{tm1b(KOMP)Wtsi}	HET	Early adult	0.00
abnormal retina morphology	Satb2^em3(IMPC)Tcp	HET	Early adult	4.96×10^-09
abnormal craniofacial morphology	Satb2^em3(IMPC)Tcp	HOM	E15.5	0.00
enlarged lymph nodes	Satb2^{tm1b(KOMP)Wtsi}	HET	Early adult	0.00
preweaning lethality, complete penetrance	Satb2^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased mean corpuscular volume	Satb2^em3(IMPC)Tcp	HET	Early adult	2.23×10^-05

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Epididymis	N/A	heterozygote	100% (1 of 1)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	50% (1 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	50% (1 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

26 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

26 Images

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X-ray

XRay Images Whole Body Dorso Ventral

26 Images

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Gross Pathology and Tissue Collection

Images

16 Images

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Eye Morphology

Images Slit Lamp

6 Images

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X-ray

XRay Images Hind Leg and Hip

16 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

26 Images

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Histopathology

Images

3 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Human diseases caused by Satb2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Satb2 (4 diseases)
Human diseases predicted to be associated with Satb2 (2460 diseases)

The table below shows human diseases associated to Satb2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
2Q32Q33 Microdeletion Syndrome	Thin vermilion border, Dental crowding, Oligodontia, Anteverted nares, High palate, Narrow mouth,...	ORPHA:251019
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Long philtrum, Clinodactyly of the 5th finger, High palate, Abnormality of the dentit...	ORPHA:576283
Glass Syndrome	Long nose, Conical tooth, Dental crowding, Oligodontia, Gingival overgrowth, High palate, Narrow ...	OMIM:612313
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Short nose, Macrocephaly, Short philtrum, Wide nose, Dental crowding, Relative macrocephaly, High...	ORPHA:251028

The table below shows human diseases predicted to be associated to Satb2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Dentin Dysplasia, Type I	Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite...	OMIM:125400
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Pierre Robin Sequence With Facial And Digital Anomalies	Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,...	OMIM:311895
Anonychia-Microcephaly Syndrome	Microcephaly, Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition	ORPHA:1094
Pierre Robin Syndrome	Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate	OMIM:261800
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Orofaciodigital Syndrome Ii	Bifid nasal tip, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, P...	OMIM:252100
Familial Median Cleft Of The Upper And Lower Lips	Fusion of gums, Irregular dentition, Abnormal maxilla morphology, Cleft upper lip, Cleft lower li...	ORPHA:401942
Otodental Dysplasia	Agenesis of premolar, Delayed eruption of teeth, Anteverted nares, Enamel hypoplasia, Long philtr...	OMIM:166750
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Isolated Pierre Robin Syndrome	Micrognathia, Cleft palate, Glossoptosis	ORPHA:718
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Multiple bony cystic lesions, Atrophy of alveolar ridges, Abnormality of pri...	ORPHA:83451
Tooth Agenesis, Selective, 9	Selective tooth agenesis, Microdontia, Taurodontia	OMIM:617275
Tricho-Dento-Osseous Syndrome	Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer...	ORPHA:3352
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
Tooth Agenesis, Selective, 7	Agenesis of permanent teeth, Taurodontia	OMIM:616724
Amelogenesis Imperfecta, Type Ia	Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia	OMIM:104530
Mesomelic Limb Shortening And Bowing	Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Microg...	OMIM:249710
Cleft Palate-Lateral Synechia Syndrome	Narrow mouth, Everted lower lip vermilion, Oral synechia, Micrognathia, Cleft palate	ORPHA:2016
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ...	ORPHA:2972
Pierre Robin Syndrome And Oligodactyly	Micrognathia, Pierre-Robin sequence, Cleft palate, Finger aplasia	OMIM:172880
Ackerman Syndrome	Broad philtrum, Taurodontia	OMIM:200970
Arthrogryposis, Distal, Type 2E	Narrow mouth, Microcephaly, Micrognathia, Trismus, Mild microcephaly	OMIM:121070
Peroxisome Biogenesis Disorder 10A (Zellweger)	Epiphyseal stippling, High palate, Death in infancy, Micrognathia, Prominent nose	OMIM:614882
17Q21.31 Microduplication Syndrome	Short nose, Short philtrum, Anteverted nares, High palate, Abnormality of the dentition, Microcep...	ORPHA:217340
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Micrognathia, Cleft palate, Thin upper lip vermilion	ORPHA:2015
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal palate morphology, Tooth agenesis, Micrognathia, Mesomelia, Brachydactyly, Convex nasal ...	ORPHA:1277
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar	OMIM:114700
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Abnormal oral cavity morphology, Anteverted nares, Narrow mouth, Depressed nasal ridge	ORPHA:1355
Bowen-Conradi Syndrome	Rocker bottom foot, Orofacial cleft, Clinodactyly of the 5th finger, Death in infancy, Microcepha...	ORPHA:1270
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d...	ORPHA:2791
Bowen-Conradi Syndrome	Rocker bottom foot, Clinodactyly of the 5th finger, Microcephaly, Micrognathia, Prominent nose	OMIM:211180
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ...	ORPHA:3104
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Hamel Cerebro-Palato-Cardiac Syndrome	Narrow mouth, Microcephaly, Micrognathia, Cleft palate, Malar flattening, Bulbous nose, Wide nasa...	ORPHA:93946
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormal palate morphology, Anteverted nares, Narrow mouth, Depressed nasal ridge, Congenital hip...	ORPHA:2412
Periodontal Ehlers-Danlos Syndrome	Periodontitis, Atrophy of alveolar ridges, Gingival overgrowth, Microdontia, Premature loss of pr...	ORPHA:75392
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p...	OMIM:156510
Trichodentoosseous Syndrome	Widely spaced teeth, Microdontia, Taurodontia	OMIM:190320
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O...	OMIM:137550
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Microcephaly, Prominen...	ORPHA:364577
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Chromosome 16P11.2 Deletion Syndrome, 593-Kb	Micrognathia, Macrocephaly	OMIM:611913
Microcephaly 4, Primary, Autosomal Recessive	Cerebellar vermis hypoplasia, Micrognathia, Primary microcephaly, Low hanging columella	OMIM:604321
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Dislocated radial head, Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Hypoplasia...	ORPHA:2975
Cleft Palate, Isolated	Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate	OMIM:119540
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Alazami-Yuan Syndrome	Low hanging columella, Dental crowding, High palate, Narrow mouth, Prominent nose, Microcephaly, ...	OMIM:617126
14Q11.2 Microdeletion Syndrome	Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Micr...	ORPHA:261120
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Fetal Valproate Spectrum Disorder	Thin vermilion border, Short nose, Narrow mouth, Depressed nasal ridge, Downturned corners of mou...	ORPHA:1906
Lethal Osteosclerotic Bone Dysplasia	Short nose, Retrognathia, Gingival fibromatosis, Anteverted nares, Gingival overgrowth, Mandibula...	ORPHA:1832
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Short distal phalanx of...	ORPHA:2776
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Microphthalmia With Limb Anomalies	Sandal gap, Tibial bowing, Death in infancy, Broad thumb, Hypoplasia of the premaxilla, Long phil...	ORPHA:1106
Distal Deletion 1Q	Thin vermilion border, Microcephaly, Micrognathia, Smooth philtrum, Aplasia/Hypoplasia of the cor...	ORPHA:36367
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Thin vermilion border, Frontal cortical atrophy, Narrow mouth, Microcephaly, Parietal cortical at...	OMIM:618766
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204650
Intellectual Disability, Wolff Type	Orofacial cleft, Thick lower lip vermilion, Clinodactyly of the 5th finger, Non-midline cleft of ...	ORPHA:3080
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Patchy distortion of vertebrae, Mandibular prognathia, O...	ORPHA:1248
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Cleft palate, Malar flattening, Short foot, Small hand	OMIM:300261
Holoprosencephaly 7	Solitary median maxillary central incisor, Bilateral cleft palate, Microcephaly, Unilateral cleft...	OMIM:610828
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo...	ORPHA:1515
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Short nose, Mandibular prognathia, Gingival overgrowth,...	OMIM:614753
W Syndrome	Hypoplasia of the ulna, Camptodactyly, Metatarsus adductus, Clinodactyly, Broad nasal tip, Upper ...	ORPHA:2804
Sonoda Syndrome	Narrow mouth, Depressed nasal bridge	OMIM:270460
Taurodontism	Taurodontia	OMIM:272700
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Long nasal bridge, Narrow mouth, Microcephaly, Micrognathia, Broad nasal tip, Abnormal cerebral w...	OMIM:617755
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares, Hypointensity of cerebral white matter on MRI, Microcephaly, Smooth...	ORPHA:46
Atkin-Flaitz Syndrome	Macrocephaly, Anteverted nares, Abnormality of the dentition, Everted lower lip vermilion, Maxill...	ORPHA:1193
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies	Thick lower lip vermilion, Short philtrum, Microcephaly, Thick upper lip vermilion, Broad nasal t...	OMIM:600093
Arthrogryposis, Distal, Type 1C	Rocker bottom foot, Retrognathia, Wrist flexion contracture, Bifid uvula, Adducted thumb, Scolios...	OMIM:619110
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Temporomandibular joint ankylosis, Micrognathia, Cleft palate, Mic...	ORPHA:141152
Weaver-Williams Syndrome	Microcephaly, Cleft palate, Narrow mouth	ORPHA:3448
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Scoliosis, Glossoptosis, Oral synechia, Joint stiffness, Camptoda...	ORPHA:1388
Filippi Syndrome	Thin vermilion border, Short philtrum, Low hanging columella, Serrated incisors, Microdontia, Mic...	OMIM:272440
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Hypoplasia of the corpus callosum, Short nose, Abnormal palate morphology, Narrow mouth, Microcep...	ORPHA:1495
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal...	OMIM:616959
Rubinstein-Taybi Syndrome 2	Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Low hangi...	OMIM:613684
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Cleft hard palate, Fixed elbow flexion, Rhizomelia, Genu valgum, Delayed epip...	ORPHA:166016
Holoprosencephaly 9	Thin corpus callosum, Solitary median maxillary central incisor, Bilateral cleft palate, Optic ne...	OMIM:610829
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia	OMIM:104510
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Rhiny	Thin vermilion border, Short nose, Anteverted nares	OMIM:180360
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc...	OMIM:602418
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Orofacial Cleft 15	Palate fistula, Bilateral cleft palate, Bulbous nose, Cryptorchidism, Agenesis of lateral incisor...	OMIM:616788
Oculoauriculofrontonasal Syndrome	Macrocephaly, Wide nose, Bifid nasal tip, Narrow mouth, Microcephaly, Micrognathia, Cleft palate,...	ORPHA:398156
Frontonasal Dysplasia 1	Short columella, Widely-spaced maxillary central incisors, Radial deviation of finger, Bifid nasa...	OMIM:136760
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Maxillonasal Dysplasia, Binder Type	Short nose, Dental malocclusion, Depressed nasal bridge, Short columella	OMIM:155050
Splenogonadal Fusion With Limb Defects And Micrognathia	Stillbirth, Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth	OMIM:183300
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, Retrognathia, Narrow mouth, High palate	ORPHA:2528
Autism, Susceptibility To, X-Linked 6	Underdeveloped nasal alae, Narrow mouth, Short philtrum	OMIM:300872
Clark-Baraitser syndrome	Thick lower lip vermilion, Genu valgum, Genu recurvatum, Anteverted nares, Scoliosis, Prominent m...	OMIM:300602
Liang-Wang Syndrome	Cerebral atrophy, Gingival overgrowth, Macroglossia, Everted lower lip vermilion, Downturned corn...	OMIM:618729
Auriculocondylar Syndrome 4	Narrow mouth, Micrognathia, Cleft palate, Glossoptosis	OMIM:620457
Charlie M Syndrome	Thin vermilion border, Short philtrum, Non-midline cleft of the upper lip, Narrow mouth, Tooth ag...	ORPHA:1406
Craniofacial-Deafness-Hand Syndrome	Short nose, Aplasia/Hypoplasia involving the nose, Narrow mouth, Depressed nasal ridge, Hypoplasi...	ORPHA:1529
Auriculocondylar Syndrome 2A	Short mandibular rami, Macrocephaly, Dental crowding, Mandibular condyle hypoplasia, Temporomandi...	OMIM:614669
Holoprosencephaly-Postaxial Polydactyly Syndrome	Orofacial cleft, Absent nares, Thyroid hypoplasia, Narrow mouth, Anal atresia, Postaxial hand pol...	ORPHA:2166
3Mc Syndrome 2	Limited elbow movement, Abnormal vertebral morphology, Torticollis, High palate, Depressed nasal ...	OMIM:265050
Pallister-Hall-Like Syndrome	Short nose, Occipital encephalocele, Short ribs, Postaxial hand polydactyly, Micromelia, Death in...	OMIM:241800
Aarskog-Scott Syndrome	Everted lower lip vermilion, Umbilical hernia, Long philtrum, Joint hypermobility, Anteverted nar...	ORPHA:915
Atelosteogenesis, Type Iii	Widened distal phalanges, Rhizomelia, Tombstone-shaped proximal phalanges, Sandal gap, Hitchhiker...	OMIM:108721
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Whistling Face Syndrome, Recessive Form	Kyphoscoliosis, Knee flexion contracture, Talipes equinovarus, Shoulder flexion contracture, Elbo...	OMIM:277720
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Mmep Syndrome	Orofacial cleft, Triphalangeal thumb, Mandibular prognathia, Split foot, Median cleft upper lip	ORPHA:3434
Non-Distal Duplication 10Q	Short nose, High palate, Everted lower lip vermilion, Microcephaly, Micrognathia, Convex nasal ri...	ORPHA:1695
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Intellectual Disability, Birk-Barel Type	High, narrow palate, Limited elbow flexion/extension, Foot joint contracture, Short philtrum, Nar...	ORPHA:166108
Spastic Paraplegia 70, Autosomal Recessive	Scoliosis, High palate, Micrognathia, Achilles tendon contracture, Ankle clonus	OMIM:620323
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Split foot, Micrognathia, Cleft palate, Malar flattening, Toe syndactyly	OMIM:183700
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Cerebral white matter hypoplasia, Microcephaly, Cerebral cortical atrophy, Micrognathia, Adducted...	ORPHA:3207
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Chromosome 22Q11.2 Duplication Syndrome	High palate, Depressed nasal ridge, Microcephaly, Velopharyngeal insufficiency, Micrognathia	OMIM:608363
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology, Increased bone mineral density	ORPHA:1653
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Orofacial cleft, Depressed nasal ridge, Increased nuchal translucency, Intestinal malrotation, In...	ORPHA:77300
Congenital Myopathy 16	Narrow mouth, Micrognathia, High palate, Prominent nasolabial fold	OMIM:618524
Parc Syndrome	Cleft palate, Microretrognathia	OMIM:600331
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Supernumerary tooth, Cerebral calcification, Carious teeth, Micrognathia, Hypoplasia of the zygom...	ORPHA:3145
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short 4th metacarpal, High, narrow palate, Glossoptosis, Tapered finger, Microcephaly, Short dist...	ORPHA:3201
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Retrognathia, Hypoplasia of the radius, Fibular hypoplasia, Radial deviat...	OMIM:227270
Neurofaciodigitorenal Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Abnormality of the philtrum, Mandibular prog...	ORPHA:2673
Arthrogryposis, Distal, Type 7	Hammertoe, Metatarsus adductus, Micrognathia, Distal arthrogryposis, Cutaneous syndactyly of toes...	OMIM:158300
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose, Macrocephaly, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Wid...	ORPHA:2429
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Tooth agenesis, Persistent open anterior fontanelle, Massively thickened...	ORPHA:1798
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Abnormal metacarpal morphology, Glossoptosis, Micrognathia, Cleft palate, Osteoarthritis, Malar f...	ORPHA:166100
Microphthalmia, Syndromic 8	Orofacial cleft, Mandibular prognathia, Split foot, Cleft upper lip, Cleft palate, Widely-spaced ...	OMIM:601349
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Microcephaly, Micrognathia, Cleft palate, Agenesis of corpus callosum, Cerebe...	OMIM:616570
Arthrogryposis, Distal, Type 12	Clinodactyly of the 5th finger, Tapered distal phalanges of finger, Dental crowding, Agenesis of ...	OMIM:620545
20P12.3 Microdeletion Syndrome	Macrocephaly, Narrow mouth, Hypoplasia of the maxilla, Malar flattening, Long philtrum, Wide nasa...	ORPHA:261295
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Retrognathia, Broad neck, 11 pairs of ribs, High palate, Camptodactyly, Prena...	OMIM:618393
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Supernumerary tooth, Short finger, Cone-shaped epiphyses of the middle phalanges of t...	OMIM:190351
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Anteverted nares, Narrow mouth, Microdontia, Microcephaly, Micrognathia, Open mouth, ...	OMIM:619356
Recon Progeroid Syndrome	Thin vermilion border, Proximal placement of thumb, Dental crowding, Narrow nasal ridge, Antevert...	OMIM:620370
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, High palate, Microcephaly, Micrognathia, Long philtrum	ORPHA:2598
Dental Ankylosis	Abnormal dental enamel morphology, Mandibular prognathia, Clinodactyly of the 5th finger, Tooth a...	ORPHA:1077
Split-Hand/Foot Malformation 3	High palate, Narrow mouth, Camptodactyly, Split hand, Hypoplasia of the maxilla, Cleft palate, Mi...	OMIM:246560
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Scoliosis, Glossoptosis, Knee dislocation, Lumbar scoliosis, Cleft palate, Pierre-R...	OMIM:620269
Robinow Syndrome, Autosomal Dominant 2	Kyphoscoliosis, Dental crowding, Broad thumb, Mesomelia, Wide mouth, Umbilical hernia, Short dist...	OMIM:616331
Elsahy-Waters Syndrome	Bifid nasal tip, Bifid uvula, Broad philtrum, Abnormality of the anus, Long philtrum, Impacted to...	OMIM:211380
17P13.3 Microduplication Syndrome	Hypoplasia of the corpus callosum, Short nose, Wide nose, Narrow mouth, High palate	ORPHA:217385
Verheij Syndrome	Retrognathia, Long philtrum, Short nose, Anteverted nares, Short 5th finger, Scoliosis, Hemiverte...	OMIM:615583
Orofaciodigital Syndrome Xvii	Polydactyly, Retrognathia, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal,...	OMIM:617926
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Abnormality of the nose, Thin vermilion border, Abnormal palate morphology, Whistling appearance,...	ORPHA:1150
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Short nose, Anteverted nares, Exaggerated cupid's bow, Microcephaly, Wide mouth, Thick vermilion ...	OMIM:618506
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Clinodactyly of the 5th finger, Tooth malposition, Anteverted nares, 2-3 toe syndactyly, Microgna...	OMIM:618608
Monosomy 5P	Finger syndactyly, Abnormality of bone mineral density, Scoliosis, High palate, Microretrognathia...	ORPHA:281
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Orofaciodigital Syndrome Xix	Retrognathia, Bifid nasal tip, Microdontia, Low posterior hairline, Accessory oral frenulum, Tong...	OMIM:620107
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Lethal Recessive Chondrodysplasia	Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized osteosclerosis, ...	ORPHA:1423
Orofacial Cleft 13	Retrognathia, Cleft soft palate, Oligodontia, Micrognathia, Malar flattening	OMIM:613857
Alazami Syndrome	Widely spaced teeth, Short philtrum, Wide nose, Microcephaly, Wide mouth, Thick vermilion border,...	OMIM:615071
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Narrow palate, Thick lower lip vermilion, Narrow mouth, Carious teeth, Broad columella, Prominent...	ORPHA:457365
Intellectual Developmental Disorder, Autosomal Dominant 26	Short philtrum, Anteverted nares, Prominent nasal tip, Narrow mouth, Microcephaly, Micrognathia, ...	OMIM:615834
Lowry-Maclean Syndrome	Microcephaly, Convex nasal ridge, Cleft palate, Delayed eruption of teeth	OMIM:600252
Nemaline Myopathy 9	Scoliosis, High palate, Micrognathia, Cleft palate, Arthrogryposis multiplex congenita	OMIM:615731
Peho-Like Syndrome	Hypoplasia of the corpus callosum, Short nose, Retrognathia, Progressive microcephaly, Polymicrog...	OMIM:617507
Atelosteogenesis, Type Ii	Lacunar halos around chondrocytes, Stillbirth, Sandal gap, Bifid humerus, Hitchhiker thumb, Talip...	OMIM:256050
Burn-Mckeown Syndrome	Thin vermilion border, Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Short philt...	OMIM:608572
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd...	ORPHA:363417
2Q32Q33 Microdeletion Syndrome	Thin vermilion border, Dental crowding, Oligodontia, Anteverted nares, High palate, Narrow mouth,...	ORPHA:251019
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Wide anterior fontanel, Prominent nose, Delayed closure of the...	OMIM:614886
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Malar flattening, Choanal sten...	OMIM:241310
Warburg Micro Syndrome 1	Cerebral atrophy, Hypoplasia of the corpus callosum, Thin vermilion border, Cerebellar vermis hyp...	OMIM:600118
Intellectual Developmental Disorder, X-Linked 91	Short nose, High palate, Macrodontia	OMIM:300577
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Retrognathia, Mandibular prognathia, Microcephaly, Camptodactyly of finger, Micrognathia, Bifid u...	ORPHA:2521
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Dandy-Walker malformation, Progressive microcephaly, Smooth philtrum, Long philtrum, ...	ORPHA:438178
Treacher Collins Syndrome 4	Microcephaly, Micrognathia, Cleft palate, Choanal stenosis, Malar flattening	OMIM:618939
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the nose, Underdeveloped nasal alae, Abnormality of the dentition, ...	ORPHA:1794
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Joint hypermobility, Dental crowding, Open bite, Hyperplasia of the maxilla	OMIM:613671
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Macrocephaly, High palate, Tapered finger, Decreased testicular size, Microcephaly, Hypoplasia of...	ORPHA:85279
Nance-Horan Syndrome	Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short phalanx of fing...	OMIM:302350
Diabetes Insipidus, Neurohypophyseal	Long philtrum, Short nose, Wide nose	OMIM:125700
Trisomy 8Q	Orofacial cleft, Bone cyst, Non-midline cleft of the upper lip, High palate, Everted lower lip ve...	ORPHA:1752
Acromegaloid Facial Appearance Syndrome	Thick nasal alae, Tapered finger, Micrognathia, Large hands, Thick vermilion border, Bulbous nose...	OMIM:102150
Lujan-Fryns Syndrome	Short philtrum, Dental crowding, Scoliosis, High palate, Abnormality of the dentition, Hypoplasia...	ORPHA:776
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Subperiosteal bone formation, Hyperostosis, Enamel hypoplasia, Hypercalcemia, Hyperph...	OMIM:211900
Burn-Mckeown Syndrome	Short nose, Abnormal palate morphology, Bilateral choanal atresia, Prominent nasal bridge, Wide n...	ORPHA:1200
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Triphalangeal thumb, Abnormal form of the vertebral bodies, Abnormality of the elbow,...	ORPHA:3098
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Pycnodysostosis	Hyperlordosis, Kyphosis, Acromelia, Persistent open anterior fontanelle, Mesomelia, Joint hypermo...	ORPHA:763
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia	ORPHA:2668
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Orofaciodigital Syndrome Type 5	Abnormal oral frenulum morphology, Microcephaly, Bifid uvula, Accessory oral frenulum, Aganglioni...	ORPHA:2919
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine...	ORPHA:98870
Cardioacrofacial Dysplasia 1	Genu valgum, Short philtrum, Conical tooth, Hypoplasia of the maxilla, Postaxial polydactyly, Lim...	OMIM:619142
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Abnormal vertebral morphology, 2-3 toe syndactyly, Narrow mouth, Cleft upper lip, ...	OMIM:239800
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Wide anterior font...	OMIM:620099
Multiple Pterygium Syndrome, X-Linked	Short finger, Multiple pterygia, Joint dislocation, Depressed nasal ridge, Cleft upper lip, Micro...	OMIM:312150
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Retrognathia, Macrocephaly, Broad nasal tip, Malar flattening, Open mouth	OMIM:613670
Cleidocranial Dysplasia	Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal metacarpal morphology, Scoliosis,...	ORPHA:1452
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the corpus callosum, Progressive microcephaly, Widely-spaced incisors, Hypoplasia o...	OMIM:618737
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Mandibular prognathia, Abnormal nasal base norphology, Unilateral ...	ORPHA:1919
Orofaciodigital Syndrome Type 10	Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso...	ORPHA:2756
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Metacarpal osteolysis, Wrist swelling, Ankle swelling, Carpal osteolysis, Ulnar devia...	OMIM:166300
Chand Syndrome	Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral frenulum morphology, Commiss...	ORPHA:1401
Chromosome 1P35 Deletion Syndrome	Narrow mouth, High palate, Microcephaly, Micrognathia, Wide nasal bridge, Thin upper lip vermilion	OMIM:617930
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Thickened cortex of long bones, Mandibular osteomyelitis, Recurrent fractures	ORPHA:53697
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Kyphoscoliosis, Prominent fingertip pads, Glossoptosis, Micr...	OMIM:602535
Stickler Syndrome Type 1	Long philtrum, Short nose, Platyspondyly, Abnormal vertebral epiphysis morphology, Hypoplasia of ...	ORPHA:90653
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Genu valgum, Cubitus valgus, Delayed erupt...	OMIM:265900
Distal Deletion 10P	Clinodactyly of the 5th finger, Webbed neck, Non-midline cleft of the upper lip, Ectopic anus, An...	ORPHA:1580
Acrofacial Dysostosis, Palagonia Type	Supernumerary tooth, High, narrow palate, Short 4th metacarpal, Spina bifida occulta, Abnormal fo...	ORPHA:1787
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Retrognathia, Abnormal metacarpal morpholo...	ORPHA:2631
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo...	OMIM:206920
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Incisor macrodontia, Narrow mouth, Microcephaly, Cleft palate, Long philtrum	OMIM:615502
Clark-Baraitser Syndrome	Short nose, Short philtrum, Low hanging columella, Anteverted nares, Exaggerated cupid's bow, Hig...	OMIM:617752
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Wide nose, Anteverted nares, Long philtrum, Hypoplasia of the zyg...	ORPHA:3074
Hypophosphatasia, Adult	Rickets, Pathologic fracture, Arthropathy, Carious teeth, Premature loss of primary teeth, Osteom...	OMIM:146300
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Abnormal mandible morphology, Natal tooth	OMIM:217150
Zechi-Ceide Syndrome	Short metatarsal, Wide nose, Sandal gap, Oligodontia, Cleft upper lip, Cleft palate, Malar flatte...	OMIM:612916
Acrodysostosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Coxa valga, G...	ORPHA:950
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, High palate, Broad thumb, Micrognathia, Long hallux, Prominent nose, Hallux valgus, C...	OMIM:620194
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Macrocephaly, Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated ...	ORPHA:2025
Aase-Smith Syndrome	Dandy-Walker malformation, Slender finger, Camptodactyly of finger, Cleft palate, Aplasia/Hypopla...	ORPHA:916
Skraban-Deardorff Syndrome	Absent cupid's bow, Widely spaced teeth, Anteverted nares, Micrognathia, Cleft palate, Thick uppe...	OMIM:617616
Cataract-Intellectual Disability-Hypogonadism Syndrome	Short philtrum, Tooth malposition, High palate, Furrowed tongue, Everted lower lip vermilion, Mic...	ORPHA:1387
X-Linked Intellectual Disability, Siderius Type	Orofacial cleft, Scoliosis, Low posterior hairline, Cleft upper lip, Large hands, Broad nasal tip...	ORPHA:85287
Keipert Syndrome	Macrocephaly, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Exagg...	ORPHA:2662
Bardet-Biedl Syndrome 7	Narrow mouth, Malar flattening, Depressed nasal bridge	OMIM:615984
Genitopalatocardiac Syndrome	Cleft upper lip, Micrognathia, Cleft palate	OMIM:231060
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microdontia, Microcephaly, Micrognathia, Basal ganglia calcificat...	OMIM:606744
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Hip dislocation	OMIM:223200
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Short nose, Genu valgum, Irregular epiphyses of the metacarpals, Hitchhi...	OMIM:614078
Lowry-Maclean Syndrome	Osteopenia, Retrognathia, High, narrow palate, Short nose, Convex nasal ridge, Widely patent coro...	ORPHA:2409
8Q22.1 Microdeletion Syndrome	Abnormal nostril morphology, Sandal gap, Finger syndactyly, Limitation of joint mobility, Abnorma...	ORPHA:178303
Acrofacial Dysostosis, Catania Type	Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Microcephaly, Carious teeth, Cer...	OMIM:101805
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Thin vermilion border, Narrow mouth, Depressed nasal ridge, Microcephaly, Micrognathia	ORPHA:1046
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Momo Syndrome	Thick lower lip vermilion, Macrocephaly, Delayed eruption of teeth, High palate, Short sternum, L...	OMIM:157980
Robinow Syndrome, Autosomal Recessive 2	Short nose, Cleft soft palate, Triangular mouth, Sandal gap, Anteverted nares, Gingival overgrowt...	OMIM:618529
Ck Syndrome	Retrognathia, Abnormal cortical bone morphology, Dental crowding, Scoliosis, Hyperlordosis, High ...	OMIM:300831
Developmental And Speech Delay Due To Sox5 Deficiency	Narrow palate, Butterfly vertebrae, Dental crowding, 2-3 toe syndactyly, Thoracic kyphoscoliosis,...	ORPHA:313892
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
9q subtelomeric deletion syndrome	Microcephaly, Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Auriculocondylar Syndrome 1	Macrocephaly, Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Gl...	OMIM:602483
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Macrocephaly, Megalencephaly, Polymicrogyria, Narrow mouth, Abnormal nasal morphology, Depressed ...	ORPHA:83473
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Long philtrum, Clinodactyly of the 5th finger, High palate, Abnormality of the dentit...	ORPHA:576283
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Hyperlordosis, Tooth agenesis, Joint hypermobility, Coxa valga, Scoliosis, Cariou...	OMIM:618363
Tetrasomy 18P	Short nose, Thin vermilion border, Narrow mouth, Microcephaly, Long philtrum	ORPHA:3307
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Abnormal bone ossification, Flat acetabular roof, Wide proximal f...	ORPHA:163649
Pontocerebellar Hypoplasia, Type 12	Cerebral atrophy, Rocker bottom foot, Primary microcephaly, Cerebral hypoplasia, Death in infancy...	OMIM:618266
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Decreased number of sweat glands, Conical tooth, Underdeveloped nas...	OMIM:129400
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Scoliosis, High palate, Kyphosis, Hypoplasia of the maxilla, Prominent nas...	OMIM:300676
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Flared metaphysis, Delayed ossifi...	ORPHA:93346
Braddock-Carey Syndrome 2	Retrognathia, Microcephaly, Pierre-Robin sequence, Wide mouth, Cleft palate, Bulbous nose	OMIM:619981
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Glossoptosis, Abnormally ossified vertebrae, Short metacarpal, Bifid u...	ORPHA:1427
48,Xxyy Syndrome	Thick lower lip vermilion, Clinodactyly of the 5th finger, Broad jaw, Delayed eruption of teeth, ...	ORPHA:10
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, High palate, Microcephaly, Micrognathia, Broad nasal tip, Prominent nasal bridge, Smo...	OMIM:613544
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Macrocephaly, Notched primary central incisor, Microcephaly, Brachydactyly, Adducted thumb, Hydro...	OMIM:620062
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Ohdo Syndrome	Short nose, Thin vermilion border, Widely spaced teeth, Anteverted nares, Narrow mouth, Hypoplasi...	OMIM:249620
Aarskog-Scott Syndrome	Radial deviation of finger, Syndactyly, Broad philtrum, Joint hypermobility, Short 5th finger, Cl...	OMIM:305400
Amish Lethal Microcephaly	Cleft soft palate, Limitation of joint mobility, Decreased skull ossification, Osteoporosis, Spin...	ORPHA:99742
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Macrocephaly, Malar flattening, Hypoplasia of the zygomatic bone, Depressed nasal bridge	ORPHA:2835
Smith-Magenis Syndrome	Short nose, Clinodactyly of the 5th finger, Short philtrum, Corticospinal tract hypoplasia, Antev...	ORPHA:819
Microphthalmia, Syndromic 12	Retrognathia, Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death, Broad nasal tip...	OMIM:615524
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Microdontia, Short sternum, Bifid uvula, Tongue ...	OMIM:258850
Pfeiffer Syndrome	Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Dent...	OMIM:101600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen...	OMIM:616860
Diamond-Blackfan Anemia 6	Retrognathia, Triphalangeal thumb, Tracheomalacia, Cleft upper lip, Micrognathia, Bifid uvula, Cl...	OMIM:612561
Schilbach-Rott Syndrome	Long nose, Narrow mouth, Microcephaly, Micrognathia, Bifid uvula, Prominent nose, Submucous cleft...	OMIM:164220
Craniolenticulosutural Dysplasia	Long philtrum, Thin vermilion border, Wide nose, Delayed eruption of teeth, Premature loss of tee...	ORPHA:50814
Tricho-Retino-Dento-Digital Syndrome	Supernumerary tooth, Oligodontia, Abnormality of the dentition, Brachydactyly, Short 5th metacarpal	ORPHA:1264
Meier-Gorlin Syndrome 8	Micrognathia, Narrow mouth, Thick vermilion border	OMIM:617564
Intellectual Disability And Myopathy Syndrome	Limited elbow extension, Scoliosis, Incisor macrodontia, Congenital hip dislocation, Achilles ten...	OMIM:619719
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Rhizomelic Chondrodysplasia Punctata, Type 1	Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Flared metaphysis, Calcific stippling of infant...	OMIM:215100
Seckel Syndrome 5	Retrognathia, Abnormal cortical gyration, Clinodactyly of the 5th finger, 11 pairs of ribs, Oligo...	OMIM:613823
Hemifacial Atrophy, Progressive	Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth	OMIM:141300
Acromicric Dysplasia	Short nose, Thick lower lip vermilion, Anteverted nares, Narrow mouth, Long philtrum, Bulbous nose	ORPHA:969
Nager Syndrome	Abnormal palate morphology, Hypoplasia of the radius, Triphalangeal thumb, Aplasia/Hypoplasia of ...	ORPHA:245
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Snijders Blok-Campeau Syndrome	Thin corpus callosum, Widely spaced teeth, Macrocephaly, High palate, Enamel hypoplasia, Prominen...	OMIM:618205
Teebi Hypertelorism Syndrome 2	Short nose, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Microdontia, Cle...	OMIM:619736
Bonnemann-Meinecke-Reich Syndrome	Microcephaly, Cerebral calcification, Decreased response to growth hormone stimulation test, Micr...	ORPHA:1261
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu...	OMIM:259600
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Clinodactyly of the 5th finger, Joint contracture of the 5th finger, High palate, Microcephaly, M...	OMIM:248910
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Narrow mouth, Microcephaly, Carious teeth, Downturned corners of mouth, Pr...	ORPHA:1110
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Bilateral cleft palate, Wide anterior fontanel, Absent d...	OMIM:619339
Odontochondrodysplasia	Abnormal metaphysis morphology, Retrognathia, Short nose, Delayed eruption of teeth, Bowing of th...	ORPHA:166272
Trisomy 18P	Thin vermilion border, High, narrow palate, Narrow mouth, Microcephaly, Pyloric stenosis, Microgn...	ORPHA:1715
Fetal Akinesia Deformation Sequence 2	Broad neck, High palate, Micrognathia, Cleft palate, Tented upper lip vermilion, Flexion contract...	OMIM:618388
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Sideroblastic anemia, S...	OMIM:615234
Catifa Syndrome	Delayed eruption of teeth, Tooth malposition, Increased overbite, Anteverted nares, Camptodactyly...	OMIM:618761
Arthrogryposis, Distal, Type 5D	Hypermobility of distal interphalangeal joints, Limited elbow movement, Hyperlordosis, Adducted t...	OMIM:615065
Bartsocas-Papas Syndrome	Short nose, Popliteal pterygium, Finger syndactyly, Underdeveloped nasal alae, Narrow mouth, Syno...	ORPHA:1234
Jackson-Weiss Syndrome	Abnormal palate morphology, Abnormal fibula morphology, Short metatarsal, Mandibular prognathia, ...	ORPHA:1540
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, High palate, Narrow mouth, Anal atres...	ORPHA:989
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Microcephaly, Clinodacty...	OMIM:164200
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Glossoptosis, Micromelia, Dumbbell-shaped long bone, Micrognathia, Cl...	ORPHA:440354
Ventriculomegaly And Arthrogryposis	Micrognathia, Hand clenching, Agenesis of corpus callosum, Cerebellar hypoplasia, Talipes equinov...	OMIM:619501
Orofaciodigital Syndrome Iv	Cerebral atrophy, Short finger, Short tibia, Tongue nodules, High palate, Porencephalic cyst, Foo...	OMIM:258860
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Hypoplasia of the corpus callosum, Global brain atrophy, Microcephaly, Wide mouth, Bulbous nose, ...	OMIM:618470
Chromosome 4Q21 Deletion Syndrome	Short philtrum, Narrow mouth, Cerebral hypoplasia, Downturned corners of mouth, Long philtrum	OMIM:613509
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Aganglionic megacolon, Short philtrum, Mandibular prognathia, Delayed ossification of...	OMIM:239300
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Microcephaly, Wide mouth, Wide nose	OMIM:113477
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath...	OMIM:616367
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Scoliosis, Micr...	OMIM:601216
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,...	OMIM:605282
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto...	OMIM:185000
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Scoliosis, Hypermobility of i...	OMIM:613849
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormal palate morphology, Macrocephaly, Abnormality of the dentition, Carious teeth, Prominent ...	ORPHA:3270
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cryptorchidism, Cleft palate, Tooth agenesis	ORPHA:1074
Microcephaly 16, Primary, Autosomal Recessive	Micrognathia, Simplified gyral pattern, Agenesis of corpus callosum, Open mouth, Adducted thumb, ...	OMIM:616681
Acrorenal Syndrome	Abnormal tibia morphology, Split hand, Micrognathia, Cleft palate, Abnormal morphology of ulna, A...	ORPHA:971
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Thin vermilion border, Short nose, Narrow mouth	ORPHA:2370
Tonne-Kalscheuer Syndrome	Widely spaced teeth, Narrow mouth, Microcephaly, Downturned corners of mouth, Velopharyngeal insu...	OMIM:300978
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Xk Aprosencephaly Syndrome	Microcephaly, Abnormal nostril morphology, Narrow mouth, Anal atresia	ORPHA:3469
Tooth Agenesis, Selective, 3	Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia	OMIM:604625
Familial Isolated Hyperparathyroidism	Osteopenia, Generalized osteoporosis, Hypercalcemia, Hypophosphatemia	ORPHA:99879
Branchiogenic-Deafness Syndrome	Trismus, Short distal phalanx of finger, Submucous cleft hard palate, Branchial fistula, Branchia...	OMIM:609166
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Rhizomelia, Epiphyseal stippling, Anteverted nares, Scoliosis, High palate, Stippled ...	OMIM:222765
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Retrognathia, Limited elbow movement, Broad neck, Wide nose, Talipes equinovarus,...	OMIM:300280
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Retrognathia, Macrocephaly, Mandibular prognathia, Everted lower lip vermilion, Microcephaly, Wid...	OMIM:619595
Distal 17P13.1 Microdeletion Syndrome	Retrognathia, Increased overbite, Abnormal hand morphology, High palate, Microcephaly, Arachnodac...	ORPHA:319171
Cohen Syndrome	High, narrow palate, Genu valgum, Cubitus valgus, Short metatarsal, Short philtrum, Tapered finge...	OMIM:216550
Lambotte Syndrome	Microcephaly, Convex nasal ridge, Retrognathia, Narrow mouth	OMIM:245552
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization	OMIM:613211
Craniosynostosis 2	Supernumerary tooth, Triphalangeal thumb, Unicoronal synostosis, Cleft soft palate, Bicoronal syn...	OMIM:604757
Zimmermann-Laband Syndrome	Supernumerary tooth, Wide nose, Gingival fibromatosis, Anterior open-bite malocclusion, Hypodonti...	ORPHA:3473
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Femoral retroversion, Unilateral wrist flexion contracture, Micrognathia, Knee flexion contractur...	OMIM:616531
Arthrogryposis, Distal, Type 3	Kyphoscoliosis, Bifid uvula, Overlapping toe, Scoliosis, Ulnar deviation of the hand or of finger...	OMIM:114300
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Hypoplasia of the corpus callosum, Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped...	OMIM:617102
Trichorhinophalangeal Syndrome Type 2	Supernumerary tooth, Long philtrum, Abnormal palate morphology, Genu valgum, Joint dislocation, C...	ORPHA:502
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Rocker bottom foot, Thin vermilion border, Adducted thumb, Short philtrum, Mandibular prognathia,...	OMIM:618622
Trichorhinophalangeal Syndrome Type 1	Supernumerary tooth, Clinodactyly of the 5th finger, Short metatarsal, Long upper lip, Hyperlordo...	ORPHA:77258
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Abnormal form of the vertebral bodies, Abnormal pelvis bo...	ORPHA:1426
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Acromicric Dysplasia	Thick lower lip vermilion, Anteverted nares, Narrow mouth, Long philtrum, Bulbous nose, Deep phil...	OMIM:102370
Split Lower Lip	Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla	OMIM:183400
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Short nose, Retrognathia, Macrocephaly, Short philtrum, Hypodontia, Narrow mouth, ...	OMIM:620250
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Decreased skull ossification, Multiple prenatal fractures, Unilateral cleft lip, Worm...	OMIM:616897
Carey-Fineman-Ziter Syndrome 2	High, narrow palate, Increased overbite, Dental crowding, Abnormal nasal septum morphology, Antev...	OMIM:619941
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Hyperplasia of the maxilla	OMIM:618587
Brachydactyly-Preaxial Hallux Varus Syndrome	Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Mi...	ORPHA:1278
Simosa Craniofacial Syndrome	Long nose, High, narrow palate, Narrow mouth, Depressed nasal tip, Malar flattening, Long philtru...	OMIM:182150
Momo Syndrome	Thick lower lip vermilion, Macrocephaly, Wide nasal base, Delayed eruption of teeth, Femoral bowi...	ORPHA:2563
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, H...	OMIM:249700
Camptodactyly Syndrome, Guadalajara Type 1	Short nose, Anteverted nares, Mandibular prognathia, Open bite, High palate, Narrow mouth, Microc...	ORPHA:1327
Omodysplasia 2	Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r...	OMIM:164745
Achondrogenesis	Short nose, Abnormality of bone mineral density, Anteverted nares, Abnormal enchondral ossificati...	ORPHA:932
Hypophosphatasia	Craniosynostosis, Hypercalcemia, Abnormality of the dentition, Recurrent fractures	ORPHA:436
Arthrogryposis, Distal, Type 2B1	Rocker bottom foot, Webbed neck, Mandibular prognathia, Absent phalangeal crease, High palate, Na...	OMIM:601680
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening, Hypercalcemia, Hyperphosp...	OMIM:617994
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Cleft palate, Upper limb phocomelia, Syndactyly	ORPHA:294975
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Non-midline cleft of the upper lip, ...	OMIM:141400
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Delayed eruption of teeth, Abnormal dental enamel morphology, Ant...	ORPHA:2107
Joubert Syndrome 18	Kyphoscoliosis, Retrognathia, Occipital encephalocele, Bowing of the long bones, Camptodactyly, P...	OMIM:614815
Say Syndrome	Tapered finger, Microcephaly, Micrognathia, Cleft palate, Short distal phalanx of finger, Ulnar d...	OMIM:181180
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th...	ORPHA:3429
Autosomal Recessive Amelia	Orofacial cleft, Non-midline cleft of the upper lip, Amelia involving the upper limbs, Amelia, Ac...	ORPHA:1027
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Hypoplasia of the maxilla, Slend...	OMIM:608154
Nance-Horan Syndrome	Supernumerary tooth, Mandibular prognathia, Short metacarpal, Abnormality of the dentition, Promi...	ORPHA:627
Edinburgh Malformation Syndrome	Thin vermilion border, Short nose, Anteverted nares, Narrow mouth, Choanal atresia, Downturned co...	ORPHA:1895
Van Maldergem Syndrome 1	Joint hypermobility, Clinodactyly, Short 4th metacarpal, Scoliosis, Camptodactyly, Short fourth m...	OMIM:601390
Oculoskeletodental Syndrome	Retrognathia, Hypocalcemia, Oligodontia, Abnormality of the dentition, Microdontia, Enamel hypopl...	ORPHA:557003
Treacher-Collins Syndrome	Retrognathia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Multiple encho...	ORPHA:861
3-Hydroxyisobutyric Aciduria	Cerebral calcification, Cerebral cortical atrophy, Microcephaly, Micrognathia, Long philtrum, Apl...	ORPHA:939
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Anteverted nares, Mandibular prognathia, Relative macrocephaly, High palate, Long fingers, Dental...	OMIM:618292
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Short philtrum, Anteverted nares, Prominent nasal tip, Narrow mouth, Microcephaly, ...	ORPHA:352490
Renpenning Syndrome	High, narrow palate, Short philtrum, Mandibular prognathia, Narrow mouth, Anal atresia, Microceph...	ORPHA:3242
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Van Bogaert-Hozay Syndrome	Osteolytic defects of the phalanges of the hand, Tooth malposition, Distal ulnar hypoplasia, Micr...	OMIM:277150
Perlman Syndrome	Short nose, High, narrow palate, Macrocephaly, Retrognathia, Broad alveolar ridges, Anteverted na...	ORPHA:2849
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Short 2nd metacarpal, Depressed nasal ridge, Micromelia, Short 3rd metacarp...	OMIM:118651
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Long philtrum, Short nose, Abnormal palate morphology, Microretrognathia	ORPHA:1389
Dentinogenesis Imperfecta	Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Sele...	ORPHA:49042
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, ...	OMIM:119600
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, Prominent fingertip pads, ...	OMIM:617412
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Vitamin D-Dependent Rickets, Type 2A	Rickets, Bowing of the legs, Fibular bowing, Delayed eruption of teeth, Delayed epiphyseal ossifi...	OMIM:277440
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Anteverted nares, Abnormality of primary teeth, Incisor macrodontia, High palate, Microcephaly, B...	ORPHA:438216
Facial Paresis, Hereditary Congenital, 3	Short nose, Short philtrum, Anteverted nares, High palate, Downturned corners of mouth, Micrognat...	OMIM:614744
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Craniosynostosis, Hypercalcemia	OMIM:614732
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max...	ORPHA:397973
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Bifid di...	OMIM:200990
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Ankle flexion contracture, Finger syndactyly, Dental crowding, Mandibular prognathia, Tapered fin...	ORPHA:435938
Cranioectodermal Dysplasia 4	Thin vermilion border, Broad distal phalanx of finger, Anteverted nares, Broad phalanx of the toe...	OMIM:614378
Auriculocondylar Syndrome 3	Retrognathia, Micrognathia, Bifid uvula, Glossoptosis	OMIM:615706
Cog7-Cdg	Retrognathia, Progressive microcephaly, Subcortical cerebral atrophy, Narrow mouth, Micrognathia,...	ORPHA:79333
Congenital Disorder Of Glycosylation, Type Iu	Secondary microcephaly, Short nose, Cerebral white matter atrophy, High palate, Micrognathia, Cer...	OMIM:615042
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Micrognathia, Cleft palate, Thickened nuchal skin fold	ORPHA:1779
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Retrognathia, Osteopetrosis, High, narrow palate, Spina bifida oc...	ORPHA:2780
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Anteverted nar...	ORPHA:93329
Periventricular Nodular Heterotopia 7	Hypoplasia of the corpus callosum, Short nose, Dental crowding, Cortical dysplasia, Polymicrogyri...	OMIM:617201
Al-Raqad Syndrome	Microcephaly, Short nose, Narrow mouth, Thin upper lip vermilion	OMIM:616459
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone, Malar flattening	OMIM:248390
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Distal Monosomy 7Q36	Clinodactyly of the 5th finger, Non-midline cleft of the upper lip, Micrognathia, Cleft palate, W...	ORPHA:1636
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic seizures, Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Cort...	ORPHA:93324
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Hypodontia, Oligodontia, Narrow mouth, Microdontia, Prominent nose, Long philtrum, Thin upper lip...	OMIM:618092
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth	ORPHA:3196
49,Xxxxy Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Wide nose, Delayed eruption of...	ORPHA:96264
Auriculocondylar Syndrome	Macrocephaly, Abnormality of the temporomandibular joint, Difficulty in tongue movements, Dental ...	ORPHA:137888
Acrootoocular Syndrome	Supernumerary tooth, Grayish enamel, Decreased response to growth hormone stimulation test, High,...	ORPHA:2980
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Hypocalcemia, Tooth abscess, Hypophosphatemia, Osteomalacia	ORPHA:89937
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ...	OMIM:170390
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Everted lower lip vermilion, Short metacarpal, Kyphosis, W...	ORPHA:192
Cardioacrofacial Dysplasia 2	Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Conical tooth, Mandibular prognathia...	OMIM:619143
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Long philtrum, Joint hypermobility, Caudal interpedicular nar...	ORPHA:439822
Intellectual Developmental Disorder, Autosomal Dominant 43	Hypoplasia of the corpus callosum, Thin corpus callosum, Short philtrum, Increased overbite, Low ...	OMIM:616977
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Mandibular prognathia, Abnormal digit morphology, Cleft upper lip, Cleft pa...	OMIM:268850
Miller-Dieker Syndrome	Hypoplasia of the corpus callosum, Short nose, Anteverted nares, Cerebral cortical atrophy, Lisse...	ORPHA:531
Cleft Palate-Large Ears-Small Head Syndrome	Gingival overgrowth, Microcephaly, Micrognathia, Cleft palate, Short distal phalanx of finger, Ul...	ORPHA:2013
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Joint stiffness, Abnormal oral frenulum morphology, Mesomelia, Umbilic...	ORPHA:2496
Paget Disease Of Bone 2, Early-Onset	Premature loss of teeth, Osteosclerosis of the ulna, Fractures of the long bones, Hypercalcemia, ...	OMIM:602080
Developmental And Epileptic Encephalopathy 66	Widely spaced teeth, Cerebellar vermis hypoplasia, Everted lower lip vermilion, Downturned corner...	OMIM:618067
Potocki-Shaffer Syndrome	Short philtrum, Decreased skull ossification, Depressed nasal tip, Downturned corners of mouth, M...	ORPHA:52022
Lissencephaly 7 With Cerebellar Hypoplasia	Agyria, Death in infancy, Microcephaly, Downturned corners of mouth, Micrognathia, Neonatal death...	OMIM:616342
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Abnormal thumb morphology, Abnormal zygomatic bone morphology, Abnormality of the wrist, Abnormal...	ORPHA:2511
17Q11.2 Microduplication Syndrome	Thin vermilion border, Deviated nasal septum, Abnormal dental enamel morphology, Thick nasal alae...	ORPHA:139474
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth	ORPHA:2027
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Retrognathia, Ankle flexion contracture, Stillbirth, Dental crowding, Elbow flexion contracture, ...	OMIM:617468
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft upper lip, Cleft palate	OMIM:106250
Weiss-Kruszka Syndrome	Dysplastic corpus callosum, Short nose, Prominent nasal tip, Exaggerated cupid's bow, Broad philtrum	ORPHA:502430
Achondrogenesis Type 1A	Short nose, Anteverted nares, Short foot, Abnormal enchondral ossification, Thickened nuchal skin...	ORPHA:93299
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Short ribs, Flat acetabular roof, Hypoplastic facial bones, Fibular hypoplasia, Rhizomelia, Unico...	OMIM:616300
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Anteverted nares, High palate, Glossoptosis, Camptodactyly, Micrognathia, Pierre-Robi...	OMIM:613604
Intellectual Developmental Disorder, Autosomal Recessive 68	Microcephaly, Periventricular leukomalacia, Wide nasal bridge, Hypoplasia of the maxilla	OMIM:618302
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Terminal Osseous Dysplasia	Toe clinodactyly, Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone struct...	OMIM:300244
Achondrogenesis Type 1B	Short nose, Anteverted nares, Abnormal enchondral ossification, Thickened nuchal skin fold, Micro...	ORPHA:93298
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal palate morphology, Reduced bone mineral density, Scoliosis, Open bite, Vertebral segment...	ORPHA:2617
Geroderma Osteodysplasticum	Osteopenia, Kyphoscoliosis, Beaking of vertebral bodies, Vertebral compression fracture, Periodon...	OMIM:231070
Crisponi Syndrome	Wide nose, Anteverted nares, Narrow mouth, High palate, Micrognathia, Long philtrum	ORPHA:1545
Glass Syndrome	Long nose, Conical tooth, Dental crowding, Oligodontia, Gingival overgrowth, High palate, Narrow ...	OMIM:612313
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Long philtrum, Craniosynostosi...	OMIM:166250
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Hypoalbuminemia, Thrombocytopeni...	OMIM:617021
Oculodentodigital Dysplasia, Autosomal Recessive	Long nose, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Dental crowding, Long p...	OMIM:257850
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Webbed neck, High palate, Everted lower li...	OMIM:616549
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Broad alveolar ridges, Tooth agenesis, Umbilical hernia, C...	ORPHA:2710
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Progressive microcephaly, Narrow mouth	OMIM:620007
Amelogenesis Imperfecta, Type Ij	Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car...	OMIM:617297
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Thin corpus callosum, Everted lower lip vermilion, Microcephaly, Wide mouth, Broad philtrum, Long...	OMIM:619720
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Xq28 (MECP2) duplication	Hypoplasia of the corpus callosum, Narrow mouth, Microcephaly, Malar flattening, Depressed nasal ...	DECIPHER:45
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Retrognathia, Scoliosis, High palate, Kyphosis, Micrognathia, Hand clenching,...	OMIM:611890
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Short nose, Slender nose, Microcephaly, Micrognathia, Wide mouth, Smooth philtrum, Thin upper lip...	OMIM:615419
Sponastrime Dysplasia	Kyphoscoliosis, Short dental root, Microdontia, Biconcave vertebral bodies, Aplasia of the nasal ...	ORPHA:93357
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Microcephaly, Wide mouth, Epistaxis, Agenesis of incisor, Short finger, Sh...	OMIM:619841
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Thin corpus callosum, Short philtrum, Narrow mouth, Reduced cerebral white matter volume, Microce...	OMIM:617333
Marshall Syndrome	Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul...	OMIM:154780
Cofs Syndrome	Cerebral calcification, Everted lower lip vermilion, Death in infancy, Microcephaly, Cerebral cor...	ORPHA:1466
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Mandibular prognathia, Bulbous nose, Short philtrum	ORPHA:93945
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormal palate morphology, Short nose, Clinodactyly of the 5th finger, Finger syn...	ORPHA:1786
Orofacial Cleft 10	Unilateral cleft lip, Unilateral cleft palate	OMIM:613705
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration	OMIM:615883
Mosaic Trisomy 14	Anteverted nares, Ectopic anus, High palate, Micrognathia, Cleft palate, Wide mouth, Prominent na...	ORPHA:1703
Osteoglosphonic Dysplasia	Abnormal bone ossification, Rhizomelia, Abnormal form of the vertebral bodies, Anteverted nares, ...	ORPHA:2645
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Cleft ala nasi, Non-midline cleft of the upper lip, Convex nasal ridge, Wide nasal bridge, Underd...	ORPHA:2007
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Reduced bone mineral density, Genu valgum, Upper limb undergrowth, Aplasi...	ORPHA:94068
Kyphomelic Dysplasia	Pterygium, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Talipes equin...	OMIM:211350
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Short tubular bones of the hand, Abnormal diaphysis morphology, Obtuse angle of mandi...	ORPHA:85184
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Webbed neck, Limited elbow extension and supination, Cleft upper ...	OMIM:244600
Waardenburg Syndrome Type 1	Short nose, Aganglionic megacolon, Meningocele, Mandibular prognathia, Scoliosis, Spina bifida, C...	ORPHA:894
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Anal ...	ORPHA:2863
Orofacial Cleft 5	Cleft upper lip, Cleft palate	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft upper lip, Cleft palate	OMIM:608864
Orofacial Cleft 1	Cleft upper lip, Cleft palate	OMIM:119530
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Anteverted nares, Pierre-Robin sequence, Cleft palate, Malar flattening, Depressed nasal bridge	OMIM:184840
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypophosphatemia, Hypocalcemia	OMIM:619073
Microcephaly-Micromelia Syndrome	Wide nose, Oligodactyly, Narrow mouth, Missing ribs, Micromelia, Microcephaly, Forearm undergrowt...	OMIM:251230
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Macrocephaly, Delayed eruption of teeth, Low hanging columella, Dental crowding, Anteverted nares...	OMIM:618825
Fetal Alcohol Syndrome	Short nose, Non-midline cleft of the upper lip, Anteverted nares, Vertebral segmentation defect, ...	ORPHA:1915
Van Maldergem Syndrome 2	Joint hypermobility, Clinodactyly, Short 4th metacarpal, Scoliosis, Short fourth metatarsal, Ulna...	OMIM:615546
Temple-Baraitser Syndrome	Everted upper lip vermilion, Everted lower lip vermilion, Broad thumb, Wide mouth, Short distal p...	ORPHA:420561
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Microcephaly, Arachnodactyly, Cleft palate, Broad nasal tip, Large hands, Cleft lip	OMIM:300263
Lessel-Kubisch Syndrome	Narrow mouth, Narrow nasal bridge	OMIM:618681
Ruvalcaba Syndrome	Short metatarsal, Dental crowding, Underdeveloped nasal alae, Short metacarpal, Micromelia, Micro...	OMIM:180870
Oculofaciocardiodental Syndrome	Solitary median maxillary central incisor, Bifid nasal tip, Flexion contracture of the 2nd toe, F...	ORPHA:2712
Toluene Embryopathy	Thin vermilion border, Short nose, Biparietal narrowing, Microcephaly, Micrognathia, Smooth philt...	ORPHA:1920
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Narrow mouth, Recurrent upper respiratory tract infections	OMIM:620461
Pycnodysostosis	Narrow palate, Absent frontal sinuses, Increased bone mineral density, Wormian bones, Osteolytic ...	OMIM:265800
Recombinant 8 Syndrome	Abnormality of the neck, Clinodactyly of the 5th finger, Anteverted nares, Gingival overgrowth, S...	ORPHA:96167
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short philtrum, Wide nose, Anteverted nares, Narrow mouth, High palate, Pyloric stenosis, Microgn...	ORPHA:96184
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo...	ORPHA:2741
Encephalopathy Due To Sulfite Oxidase Deficiency	Microcephaly, Short nose, Thick vermilion border, Long philtrum	ORPHA:833
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Delayed eruption of teeth, Enlargement ...	OMIM:264700
Diastrophic Dysplasia	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy...	ORPHA:628
Baraitser-Winter Syndrome 1	Retrognathia, Orofacial cleft, Short nose, Anteverted nares, Low posterior hairline, Duplication ...	OMIM:243310
Shaheen Syndrome	Enamel hypoplasia, Carious teeth, Microcephaly	OMIM:615328
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hypoplasia of the corpus callosum, Short nose, Anteverted nares, Micrognathia, Agenesis of corpus...	OMIM:618577
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Umbilical hernia, Coxa valga, Genu varum, Scol...	OMIM:201000
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Clinodactyly of the 5th finger, Abnormal oral cavity morphology, Short philtrum, Short neck, Micr...	ORPHA:1516
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Microcephaly-Albinism-Digital Anomalies Syndrome	Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia, Short distal ...	ORPHA:2513
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal metaphysis morphology, Kyphoscoliosis, Genu valgum, Abnormality of the wrist, Platyspond...	ORPHA:93316
Eiken Syndrome	Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Cubitus valgus, Delayed...	ORPHA:79106
Developmental And Epileptic Encephalopathy 70	Microcephaly, Cerebral cortical atrophy, Narrow mouth	OMIM:618298
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Ectopic anus, Mandibular ...	ORPHA:94066
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Hypoplasia of the corpus callosum, Short nose, Short philtrum, Wide nose, Primary microcephaly, O...	ORPHA:391408
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Micrognathia, Cleft palate	OMIM:601076
Fetal Minoxidil Syndrome	Micrognathia, Cryptorchidism, Clinodactyly of the 5th finger, Depressed nasal bridge	ORPHA:1918
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Thin corpus callosum, Microcephaly, Cleft palate, Broad nasal tip, Tented upper lip v...	OMIM:615716
X-Linked Mandibulofacial Dysostosis	Webbed neck, Branchial anomaly, High palate, Micrognathia, Prominent nasal bridge, Hypoplasia of ...	ORPHA:1131
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Scoliosis, Anosmia, Ost...	OMIM:619718
Crouzon Syndrome	Narrow palate, Choanal atresia, Multiple suture craniosynostosis, Hypoplasia of the maxilla, Conv...	ORPHA:207
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204700
48,Xxxy Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, Delayed eruption of teeth, Abnormal dental e...	ORPHA:96263
Cerebellofaciodental Syndrome	Thin corpus callosum, Clinodactyly of the 5th finger, Genu valgum, Tapered finger, Microcephaly, ...	OMIM:616202
Neuralgic Amyotrophy	Bifid uvula, Narrow mouth, Cleft palate	ORPHA:2901
Intellectual Developmental Disorder, X-Linked 21	Short nose, Dental crowding, Mandibular prognathia, Tented upper lip vermilion, Open mouth	OMIM:300143
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Abnormal dental enamel morphology, Bilateral cleft palate, Hyperlordosis, Abno...	ORPHA:3253
Craniofacial Microsomia 2	Submucous cleft palate, Micrognathia, Bifid uvula, Dermal sinus tract	OMIM:620444
Flat Face-Microstomia-Ear Anomaly Syndrome	Long nose, High, narrow palate, Narrow mouth, Abnormal oral mucosa morphology, Downturned corners...	ORPHA:1968
Craniosynostosis, Herrmann-Opitz Type	Convex nasal ridge, Short nose, Webbed neck, Finger syndactyly, Split hand, Micromelia, Micrognat...	ORPHA:2145
Hunter-Mcalpine Craniosynostosis Syndrome	Downturned corners of mouth, Narrow mouth	OMIM:601379
Triploidy	Meningocele, Finger syndactyly, Non-midline cleft of the upper lip, Narrow mouth, Decreased skull...	ORPHA:3376
Aicardi Syndrome	Butterfly vertebrae, Intestinal polyposis, Short philtrum, Scoliosis, Missing ribs, Cleft upper l...	ORPHA:50
Agnathia-Otocephaly Complex	Wide nose, Narrow mouth, Mandibular aplasia, Micrognathia, Cleft palate, Agenesis of corpus callo...	OMIM:202650
Infantile Myofibromatosis	Gingival fibromatosis, Bone cyst, Limitation of joint mobility, Hypercalcemia, Osteolysis	ORPHA:2591
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Retrognathia, Osteopenia, Joint dislocation, Osteomalacia, Scoliosis, Esophagitis, Osteo...	ORPHA:1901
Opitz-Kaveggia Syndrome	Radial deviation of finger, Dental crowding, Prominent fingertip pads, Intestinal malrotation, Br...	OMIM:305450
Cornelia De Lange Syndrome 2	Limited elbow movement, Proximal placement of thumb, Anteverted nares, High palate, Short foot, M...	OMIM:300590
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Conical tooth, Midgut malrotation, Choanal atre...	OMIM:263750
Non-Distal Duplication 13Q	Short nose, Thin vermilion border, High palate, Abnormality of the dentition, Everted lower lip v...	ORPHA:1702
Wilson-Turner Syndrome	Tapered finger, Short foot, Micrognathia, Broad nasal tip, Small hand, Cryptorchidism, Malar prom...	ORPHA:3459
Combined Oxidative Phosphorylation Deficiency 31	Anteverted nares, Microcephaly, Micrognathia, Wide mouth, Bulbous nose, Depressed nasal bridge	OMIM:617228
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Microdontia, Cleft lip, Cleft upper lip, Micrognathia, Cleft palate,...	OMIM:225060
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Non-midline cleft of the upp...	ORPHA:246
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Tooth malposition, Micrognathia, Hip contracture, Hypercalcemia, Hypophosphatemia, Kn...	OMIM:156400
Lambert Syndrome	Branchial anomaly, Wide mouth, Malar flattening	ORPHA:1296
Cerebellar-Facial-Dental Syndrome	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Inferior cerebellar vermis hypop...	ORPHA:444072
Chondrodysplasia, Blomstrand Type	Stillbirth, Abnormal vertebral morphology, Flared metaphysis, Short ribs, Micromelia, Micrognathi...	OMIM:215045
Orofaciodigital Syndrome Viii	Polydactyly, Bifid nasal tip, High palate, Cleft palate, Broad nasal tip, Syndactyly, Short tibia...	OMIM:300484
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Thick upper lip vermilion, Thick lower lip vermilion, Wide mouth, Mandibular prognathia	OMIM:309545
Bohring-Opitz Syndrome	Retrognathia, Dislocated radial head, Bilateral cleft palate, Broad alveolar ridges, Intestinal m...	OMIM:605039
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Secondary microcephaly, Enamel hypoplasia, Carious teeth, Broad nasal tip, Thick vermilion border...	ORPHA:363523
Hernández-Aguirre Negrete Syndrome	Bulbous nose, Wide mouth, Deep philtrum	ORPHA:2139
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognat...	OMIM:610706
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Short philtrum, Narrow nasal bridge, Hyperextensibility of the finger joints, Dental c...	OMIM:309520
Stickler Syndrome, Type Ii	High, narrow palate, Anteverted nares, Arthropathy, Arachnodactyly, Micrognathia, Bifid uvula, Cl...	OMIM:604841
Myopathy, Centronuclear, 5	Retrognathia, Narrow mouth, High palate, Micrognathia, Bifid uvula	OMIM:615959
Catel-Manzke Syndrome	Low insertion of columella, Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Bi...	OMIM:616145
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Glossoptosis, Microcephaly, Micrognath...	OMIM:618356
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
3Q27.3 Microdeletion Syndrome	Short philtrum, Slender nose, Dental crowding, Mandibular prognathia, Narrow mouth, Convex nasal ...	ORPHA:397695
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Broad thumb, Micrognathia, Smooth philtrum, Brachydactyly	OMIM:614526
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Anal atresia, Decreased testicular size, Microcephaly, Hypoplasia of the m...	ORPHA:93950
Isotretinoin Syndrome	Micrognathia, Cleft palate, Depressed nasal bridge, Biparietal narrowing	ORPHA:2305
Martsolf Syndrome 1	Slender ulna, Short metacarpal, Low posterior hairline, Broad femoral neck, Long philtrum, Joint ...	OMIM:212720
Stickler Syndrome, Type I	Kyphosis, Joint stiffness, Arachnodactyly, Bifid uvula, Irregular femoral epiphysis, Joint hyperm...	OMIM:108300
Grant Syndrome	Abnormal palate morphology, Abnormal cortical bone morphology, Joint dislocation, Wormian bones, ...	ORPHA:2097
Bamforth-Lazarus Syndrome	Retrognathia, Cleft palate, Choanal atresia	ORPHA:1226
Achalasia-Microcephaly Syndrome	Microcephaly, Mandibular prognathia, Micrognathia, Prominent nose	ORPHA:929
Rhizomelic Syndrome	Rhizomelia, Microcephaly, Micrognathia, Bifid distal phalanx of the thumb, Complete duplication o...	OMIM:268250
X-Linked Intellectual Disability, Abidi Type	Microcephaly, Non-midline cleft of the upper lip, Cleft palate, Prominent nasal bridge	ORPHA:85273
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal palate morphology, Abnormal metacarpal morphology, Abnormal form of the vertebral bodies...	ORPHA:93262
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Sclerotic vertebral endplates, Rickets of the lower l...	ORPHA:289176
Orofaciodigital Syndrome X	Retrognathia, Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescen...	OMIM:165590
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Intestinal malrotation, Paranasal sinus hypoplasia, ...	OMIM:300373
Crisponi/Cold-Induced Sweating Syndrome 1	Retrognathia, Wide nose, Anteverted nares, Narrow mouth, High palate, Carious teeth, Micrognathia...	OMIM:272430
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, 2-3 toe syndactyly, Scoliosis, High palate, Tapered finger, Hypoplasia of the maxilla...	OMIM:218000
Pierpont Syndrome	Short nose, Thin vermilion border, Widely spaced teeth, Wide nose, Long upper lip, Prominent medi...	OMIM:602342
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Thick lower lip vermilion, Short philtrum, Scoliosis, Micrognathia, Widely-spaced maxillary centr...	OMIM:608227
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Mesomelic/rhizomelic limb shortening, High palate, Bowing of the long...	ORPHA:2632
Freeman-Sheldon Syndrome	Narrow mouth, Abnormality of the dentition, Depressed nasal ridge, Long philtrum, Wide nasal brid...	ORPHA:2053
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Torticollis, Plantar flexion contracture, Temporomandibular joint ankylosis,...	ORPHA:2872
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Adducted thumb, Death in childhood, Clinodactyly of the 5th finger, Anteverted nares,...	OMIM:616809
Tetraamelia Syndrome 2	Amelia, Glossoptosis, Absent nipple, Ankyloglossia, Micrognathia, Cleft palate, Microretrognathia...	OMIM:618021
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Cornelia De Lange Syndrome 5	Limited elbow extension, Retrognathia, Thin vermilion border, Widely spaced teeth, Clinodactyly o...	OMIM:300882
Temtamy Syndrome	Abnormal palate morphology, Macrocephaly, Thick lower lip vermilion, Clinodactyly of the 5th fing...	ORPHA:1777
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Multiple pterygia	OMIM:601809
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Mandibular prognathia, Microcephaly, Wide mouth, Agenesis of corpus callosum, Smooth philtrum, Th...	OMIM:619989
Nablus Mask-Like Facial Syndrome	Retrognathia, Broad neck, Sandal gap, Everted lower lip vermilion, Long philtrum, Craniosynostosi...	OMIM:608156
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Wide nose, Short philtrum, Scoliosis, High palate, Micrognathia, Clinodactyly, Joint hypermobilit...	ORPHA:254531
6Q25 Microdeletion Syndrome	Rocker bottom foot, Clinodactyly of the 5th finger, High palate, Microcephaly, Camptodactyly of f...	ORPHA:251056
Fibrous Dysplasia Of Bone	Rickets, Abnormality of the sphenoid sinus, Abnormal facial skeleton morphology, Abnormal zygomat...	ORPHA:249
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Webbed neck, Hypoplastic distal segments of scapulae, Micrognathia, Cleft palate, Pierre-Robin se...	OMIM:602196
Pseudodiastrophic Dysplasia	Rhizomelia, Webbed neck, Anteverted nares, Scoliosis, Camptodactyly, Micrognathia, Hypoplasia of ...	OMIM:264180
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cubitus valgus, Mandibular prognathia, High palate, Furrowed tongue, Short foot, Hypoplasia of th...	OMIM:300534
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Kyphoscoliosis, Dislocated radial head, Short metacarpal, Broad femoral neck, Bifid uvula, Joint ...	OMIM:612350
8Q12 Microduplication Syndrome	Long philtrum, Everted lower lip vermilion, Narrow mouth, Wide nasal bridge	ORPHA:228399
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati...	OMIM:184260
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Scoliosis, Tibial...	ORPHA:314795
Trigonocephaly 1	Short nose, High, narrow palate, Meckel diverticulum, Microcephaly, Long philtrum, Wide nasal bridge	OMIM:190440
Frontoocular Syndrome	Narrow philtrum, Narrow mouth, High palate, Micrognathia, Prominent nasal bridge	OMIM:605321
Oral Submucous Fibrosis	Cheilitis, Narrow mouth, Abnormal oral cavity morphology, Trismus	ORPHA:357154
Peroxisome Biogenesis Disorder 8A (Zellweger)	Death in infancy, Glossoptosis, Epiphyseal stippling	OMIM:614876
Fg Syndrome 5	Short nose, Anteverted nares, Long philtrum, Diastema, Depressed nasal bridge	OMIM:300581
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization	OMIM:617217
Marshall Syndrome	Short nose, Thick lower lip vermilion, Genu valgum, Anteverted nares, High palate, Abnormality of...	ORPHA:560
Benign Samaritan Congenital Myopathy	Narrow mouth, Wide nasal bridge	ORPHA:324581
5Q14.3 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Short nose, Short philtrum, Optic nerve hypoplasia, Frontal co...	ORPHA:228384
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Frontorhiny	Encephalocele, Scoliosis, Midline nasal groove, Hypoplastic frontal sinuses, Hypoplasia of the ma...	ORPHA:391474
Van Den Ende-Gupta Syndrome	Dislocated radial head, Dental crowding, Short ribs, Femoral bowing, Everted lower lip vermilion,...	OMIM:600920
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Short 4th metacarpal, Short clavicles, High palate, Microcephaly, Microretrognathia, Prominent no...	OMIM:606220
Rhizomelic Limb Shortening With Dysmorphic Features	Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensibility of the finger joints, Short 5th fi...	OMIM:618821
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, Scoliosis, High palate, Persistence of primary teeth, Recurrent upper respir...	OMIM:619752
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Anteverted nares, Postaxial hand polydactyly, Duplication of phalan...	OMIM:617127
Otopalatodigital Syndrome Type 1	Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Short hallux, Increased...	ORPHA:90650
Harrod Syndrome	Long nose, High palate, Narrow mouth, Microcephaly, Cerebral cortical atrophy, Dental malocclusion	ORPHA:2115
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Rhizomelia, Proximal placement of thumb, Short philtrum, Decrease...	ORPHA:93267
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Albers-Schönberg Osteopetrosis	Hypocalcemia, Arthritis, Recurrent fractures, Abnormality of the dentition, Carious teeth, Osteoa...	ORPHA:53
Distal Arthrogryposis Type 1	Narrow mouth	ORPHA:1146
Leukodystrophy, Hypomyelinating, 10	Cerebral atrophy, Short nose, Secondary microcephaly, Hypoplasia of the corpus callosum, Thin ver...	OMIM:616420
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Reduced bone mineral density	ORPHA:172
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Wide humerus, Osteoporosis, Abnormal dental morphology, ...	ORPHA:319195
Spastic Paraplegia 47, Autosomal Recessive	Hypoplasia of the corpus callosum, Short philtrum, High palate, Abnormal periventricular white ma...	OMIM:614066
Greenberg Dysplasia	Retrognathia, Short ribs, Decreased skull ossification, Short metacarpal, Multiple prenatal fract...	OMIM:215140
Zaki Syndrome	Broad distal phalanx of finger, Short philtrum, Wide nose, Anteverted nares, Scoliosis, High pala...	OMIM:619648
Tetraploidy	Radial club hand, Short philtrum, Biparietal narrowing, Microcephaly, Micrognathia, Cleft palate,...	ORPHA:3305
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Intellectual Developmental Disorder, X-Linked 30	Short nose, Anteverted nares, High palate, Microcephaly, Thick upper lip vermilion, Prominent nas...	OMIM:300558
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Secondary microcephaly, Thin vermilion border, Retrognathia, Death in childhood, Dandy-Walker mal...	OMIM:612938
Hypoglossia With Situs Inversus	Narrow mouth, High palate, Micrognathia, Microglossia, Hypodontia	OMIM:612776
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Absent Eyebrows And Eyelashes With Mental Retardation	Microcephaly, Short nose, Convex nasal ridge	OMIM:200130
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Meningocele, Aplasia/Hypoplasia of the thumb, Non-midline cleft of th...	ORPHA:1908
Marshall-Smith Syndrome	Retrognathia, Short nose, Reduced bone mineral density, Anteverted nares, Gingival overgrowth, Sc...	ORPHA:561
Congenital Disorder Of Glycosylation, Type Iy	Hypoplasia of the corpus callosum, Widely spaced teeth, Microcephaly, Micrognathia, Wide mouth, C...	OMIM:300934
Congenital Heart Defects And Skeletal Malformations Syndrome	Thin vermilion border, Long nose, Short nose, Clinodactyly of the 5th finger, Sandal gap, Dental ...	OMIM:617602
Osseous Heteroplasia, Progressive	Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth	OMIM:166350
Pfeiffer Syndrome	Clinodactyly of the 5th finger, Short philtrum, Finger syndactyly, Mandibular prognathia, High pa...	ORPHA:710
Bloom Syndrome	Clinodactyly of the 5th finger, Cryptorchidism, Microcephaly, Hand polydactyly, Malar flattening,...	OMIM:210900
Roberts Syndrome	Radial deviation of finger, Mesomelic arm shortening, Proximal placement of thumb, Sandal gap, Wr...	ORPHA:3103
Aicardi Syndrome	Butterfly vertebrae, Proximal placement of thumb, Anteverted nares, Scoliosis, Hemivertebrae, Mis...	OMIM:304050
Premature Aging Syndrome, Penttinen Type	Retrognathia, Tibial bowing, Aplasia of the nasal bone, Flexion contracture of finger, Short dist...	OMIM:601812
Heart-Hand Syndrome Type 2	Abnormal palate morphology, Short 4th metacarpal, Abnormal metacarpal morphology, Aplasia/Hypopla...	ORPHA:1350
X-Linked Intellectual Disability Due To Gria3 Mutations	Narrow palate, Short philtrum, Genu recurvatum, Mandibular prognathia, Scoliosis, Short upper lip...	ORPHA:364028
Cutis Laxa, Autosomal Recessive, Type Iia	Short nose, Dandy-Walker malformation, Polymicrogyria, Anteverted nares, High palate, Narrow mout...	OMIM:219200
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles	OMIM:264270
Aminopterin Syndrome Sine Aminopterin	Megalencephaly, Macrocephaly, Oligodontia, High palate, Microcephaly, Arachnodactyly, Micrognathi...	OMIM:600325
Sheldon-Hall Syndrome	Overlapping fingers, Adducted thumb, Tarsal synostosis, Webbed neck, Scoliosis, Vertebral segment...	ORPHA:1147
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Anteverted nares, Narrow mouth, Micrognathia, Neonatal death, Cerebel...	OMIM:618810
Developmental And Epileptic Encephalopathy 73	Microcephaly, Short nose, Narrow nasal bridge, Hypoplasia of the corpus callosum	OMIM:618379
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa...	ORPHA:232
Stickler Syndrome	Reduced bone mineral density, Abnormal form of the vertebral bodies, Glossoptosis, Kyphosis, Toot...	ORPHA:828
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia	ORPHA:3214
Congenital Disorder Of Glycosylation, Type Ik	Cerebral atrophy, Thin vermilion border, Death in infancy, Microcephaly, Micrognathia	OMIM:608540
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Macrocephaly, Slender nose, High palate, Narrow mouth, Microcephaly, Micrognathia, E...	ORPHA:562528
Vertebral Hypersegmentation And Orofacial Anomalies	Anteverted nares, Unilateral cleft palate, Six lumbar vertebrae, Micrognathia, Unilateral cleft l...	OMIM:619122
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Trisomy 17P	Orofacial cleft, Wide nose, High palate, Narrow mouth, Thick nasal alae, Microcephaly, Micrognath...	ORPHA:261290
Hydrolethalus	Retrognathia, Gingival cleft, Anencephaly, Postaxial hand polydactyly, Micromelia, Micrognathia, ...	ORPHA:2189
Brachydactyly, Type E2	Short metatarsal, Delayed eruption of teeth, Oligodontia, Short metacarpal, Brachydactyly	OMIM:613382
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Convex nasal ridge, Enamel hypoplasia	OMIM:614564
Tetrasomy 12P	Short nose, Abnormal soft palate morphology, Delayed eruption of teeth, Anteverted nares, Everted...	ORPHA:884
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Laryngotra...	ORPHA:1190
Cerebrocostomandibular Syndrome	Glossoptosis, Short humerus, Long philtrum, 10 pairs of ribs, Calcaneal epiphyseal stippling, Sco...	OMIM:117650
Luo-Schoch-Yamamoto Syndrome	Short philtrum, Wide nose, Anteverted nares, Narrow mouth, Wide mouth, Thick vermilion border, Pr...	OMIM:619460
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Long philtrum, Thin vermilion border, Anteverted nares, Thoracic kyphoscoliosis, High palate, Inc...	ORPHA:481152
Mulibrey Nanism	Wide nose, Absent frontal sinuses, Dental crowding, Hypodontia, Hypoplastic frontal sinuses, Enam...	OMIM:253250
Neu-Laxova Syndrome	Retrognathia, Everted lower lip vermilion, Bifid uvula, Rickets, Pterygium, Abnormality of the ph...	ORPHA:2671
Autosomal Recessive Robinow Syndrome	Sandal gap, Kyphosis, Death in infancy, Broad thumb, Mesomelia, Wide mouth, Umbilical hernia, Lon...	ORPHA:1507
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Mandibular prognathia, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Pseudoleprechaunism Syndrome, Patterson Type	Kyphoscoliosis, Abnormal ethmoid bone morphology, Genu valgum, Delayed pubic bone ossification, M...	ORPHA:2976
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Retrognathia, Short philtrum, Cleft soft palate, Prominent nasal tip, Thick nasal alae, Depressed...	ORPHA:293725
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Lip...	ORPHA:2750
Dentinogenesis Imperfecta, Shields Type Iii	Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p...	OMIM:125500
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the corpus callosum, Retrognathia, Postnatal macrocephaly, Low hanging columella, O...	OMIM:620157
Hypomandibular Faciocranial Dysostosis	Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Narrow mouth, Bifid uvula, Cleft palat...	ORPHA:1790
Holzgreve Syndrome	Cleft upper lip, Hand polydactyly, Cleft palate	OMIM:236110
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Wide nose, Thick nasal alae, Everted lower lip vermilion, Downturned corn...	OMIM:615162
Hallermann-Streiff Syndrome	Supernumerary tooth, High, narrow palate, Reduced bone mineral density, Clinodactyly of the 5th f...	ORPHA:2108
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattening, Preaxial han...	ORPHA:79113
Coffin-Siris Syndrome 2	Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Wide nose, Dandy-Walker mal...	OMIM:614607
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Hyposmia, Anosmia, Choanal atresia, Tooth agenesis, Ectrodactyly, Cleft upper lip, Cl...	OMIM:147950
Developmental And Epileptic Encephalopathy 87	Cerebral atrophy, Widely spaced teeth, High palate, Wide mouth, Prominent nose, Bulbous nose, U-S...	OMIM:618916
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Overjet, Retrognathia, Thick lower lip vermilion, Short philtrum, Dental crowding, Anteverted nar...	OMIM:618342
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Wide nose, Thick nasal alae, Everted lower lip vermilion, Micrognathia, C...	ORPHA:357175
Acrodysostosis 1 With Or Without Hormone Resistance	Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Calvarial hyperostosi...	OMIM:101800
Nabais Sa-De Vries Syndrome, Type 2	Thin vermilion border, Clinodactyly of the 5th finger, Bilateral cleft palate, Anteverted nares, ...	OMIM:618829
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Hypoplasia of the corpus callosum, Periventricular leukomalacia, High palate, Microcephaly, Thick...	OMIM:619616
Hypoglossia-Hypodactylia	Retrognathia, Adactyly, Narrow mouth, Split hand, Micrognathia, Microglossia, Aglossia	OMIM:103300
Klippel-Feil Syndrome 2, Autosomal Recessive	Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Low posterior hairline, Cle...	OMIM:214300
Chung-Jansen Syndrome	Short nose, Thin vermilion border, Short philtrum, Anteverted nares, High palate, Micrognathia, L...	OMIM:617991
Coffin-Siris Syndrome 3	Delayed eruption of permanent teeth, Wide nose, Dandy-Walker malformation, Anteverted nares, Abno...	OMIM:614608
Distal Duplication 15Q	Congenital muscular torticollis, High palate, Anal atresia, Joint stiffness, Camptodactyly of fin...	ORPHA:1707
Distal Duplication 18Q	Short nose, Clinodactyly of the 5th finger, Anteverted nares, High palate, Choanal atresia, Thick...	ORPHA:1716
Holoprosencephaly 2	Solitary median maxillary central incisor, Anterior pituitary agenesis, Proboscis, Bilateral clef...	OMIM:157170
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Bifid uvula, Joint h...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Bifid uvula, Joint h...	ORPHA:352665
Atelosteogenesis Type Ii	Wide nasal base, Sandal gap, Tracheobronchomalacia, Bilateral cleft palate, Short ribs, Short met...	ORPHA:56304
Isolated Cleft Lip	Supernumerary maxillary incisor, Talipes equinovarus, Non-midline cleft of the upper lip, Velopha...	ORPHA:199302
Hydrolethalus Syndrome 2	Anencephaly, Postaxial hand polydactyly, Micrognathia, Cleft palate, Agenesis of corpus callosum,...	OMIM:614120
Peho Syndrome	Hypoplasia of the corpus callosum, Short nose, Retrognathia, Progressive microcephaly, Polymicrog...	OMIM:260565
Multiple Synostoses Syndrome 3	Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis, Broad thumb, Cl...	OMIM:612961
Pseudohypoparathyroidism Type 1B	Hypocalcemic seizures, Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of ...	ORPHA:94089
Crouzon Syndrome	Deviated nasal septum, Lambdoidal craniosynostosis, Dental crowding, Mandibular prognathia, High ...	OMIM:123500
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
X-Linked Intellectual Disability, Cantagrel Type	Hypoplasia of the corpus callosum, Short nose, Short philtrum, Cerebral cortical atrophy, Tented ...	ORPHA:85277
Amyotrophy, Hereditary Neuralgic	Long nasal bridge, Cleft palate, Narrow mouth, Depressed nasal bridge	OMIM:162100
Faciocardiorenal Syndrome	Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia, Wide nasal bridge, Underdeveloped nasal ...	ORPHA:1973
Aredyld Syndrome	Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Mandibu...	ORPHA:1133
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate, Bulbous nose, Wide nasal...	OMIM:612913
Autosomal Dominant Omodysplasia	Short nose, Rhizomelia, Short palm, Micrognathia, Short humerus, Malar flattening, Long philtrum,...	ORPHA:93328
Acrofacial Dysostosis Syndrome Of Rodriguez	Short philtrum, Narrow mouth, High palate, Micrognathia, Prominent nose, Wide nasal bridge	OMIM:201170
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Retrognathia, Umbilical hernia, Narrow palate, Oligodontia, Scoliosis, Camptodactyly, Short palm,...	OMIM:235510
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Dental crowding, Anteverted nares, Hyperlordosis, Sco...	OMIM:615761
Hartsfield Syndrome	Encephalocele, Non-midline cleft of the upper lip, Split hand, Cleft palate, Aplasia/Hypoplasia o...	ORPHA:2117
Dyssegmental Dysplasia, Silverman-Handmaker Type	Narrow mouth, Microcephaly, Micrognathia, Neonatal death, Malar flattening, Wide nasal bridge	OMIM:224410
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Acromicria, Relative macrocephaly, Downturned corners of mouth, Micrognathia, Clinodactyly, Short...	ORPHA:254525
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Clinodactyly of the 5th finger, Anteverted nares, Biparietal narrowing, Hypoplasia of the maxilla...	ORPHA:228396
Fetal Trimethadione Syndrome	Short nose, High palate, Microcephaly, Micrognathia, Depressed nasal bridge	ORPHA:1913
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Eem Syndrome	Widely spaced teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Microdontia, Abno...	ORPHA:1897
Orofaciodigital Syndrome I	Radial deviation of finger, Microcephaly, Ovarian cyst, Syndactyly, Tongue nodules, Clinodactyly,...	OMIM:311200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Rhizomelia, Short philtrum, Abnormality of the calcaneus, Depressed nasal ridge, Deat...	ORPHA:163966
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebral atrophy, Hypoplasia of the corpus callosum, Low hanging columella, Exaggerated cupid's b...	OMIM:618659
Saethre-Chotzen Syndrome	Narrow palate, Convex nasal ridge, Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal ...	ORPHA:794
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ...	OMIM:147891
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Thin corpus callosum, Progressive microcephaly, Microcephaly, Cerebral cortical atrophy, Microgna...	OMIM:620240
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebral atrophy, Short nose, Hypoplasia of the corpus callosum, Global brain atrophy, Progressiv...	OMIM:617802
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Long philtrum, Short f...	OMIM:608670
Cohen Syndrome	Sandal gap, Kyphosis, Tooth agenesis, Arachnodactyly, Joint hypermobility, Short philtrum, Scolio...	ORPHA:193
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Mandibular prognathia, Everted lower lip vermilion, Microcephaly, Tented upper lip ve...	ORPHA:261144
Mandibuloacral Dysplasia	Abnormal tongue morphology, Dental crowding, Increased adipose tissue around the neck, Osteolytic...	ORPHA:2457
Potocki-Shaffer Syndrome	Short nose, Short philtrum, Downturned corners of mouth, Wide nasal bridge, Underdeveloped nasal ...	OMIM:601224
Hypophosphatasia, Infantile	Unossified vertebral bodies, Abnormality of the dentition, Elevated plasma pyrophosphate, Decreas...	OMIM:241500
Rothmund-Thomson Syndrome Type 2	Long nose, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Microdontia, ...	ORPHA:221016
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Bone cyst, Abnormal bone structure, Abnormality of the dentition, Premature loss of...	ORPHA:93160
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Hypokalemia, Hypocalcemia, Osteomalacia, Elevated circulating creatinine con...	OMIM:179800
Cutis Laxa, Autosomal Recessive, Type Ib	Convex nasal ridge, Retrognathia, Death in childhood, High palate, Bowing of the long bones, Spin...	OMIM:614437
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Short philtrum, Anteverted nares, Abnormal periventricular white matter morphology, D...	OMIM:613443
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Bifid uvula, Umbilical hernia, Joint hypermobili...	OMIM:601808
Branchiootic Syndrome	Micrognathia, Cleft palate, Branchial fistula, Lip pit	ORPHA:52429
Raine Syndrome	Short nose, Cerebral calcification, Gingival overgrowth, Mandibular prognathia, High palate, Narr...	OMIM:259775
Distal Duplication 5Q	Short nose, Thin vermilion border, Narrow mouth, Microcephaly, Carious teeth, Micrognathia, Promi...	ORPHA:96097
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Syndactyly, Umbilical hernia, Scoliosis, 4-5 toe syndactyly, Depressed na...	OMIM:308050
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Rhombencephalosynapsis	Short nose, Macrocephaly, Aganglionic megacolon, Esophageal atresia, Anteverted nares, Narrow mou...	ORPHA:59315
Acrofacial Dysostosis 1, Nager Type	Retrognathia, Radial deviation of finger, Temporomandibular joint ankylosis, Wide mouth, Absent t...	OMIM:154400
Epidermolysis Bullosa, Junctional 1A, Intermediate	Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters	OMIM:226650
Orofaciodigital Syndrome Type 4	Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Genu varum, Short philtrum, Joint d...	ORPHA:2753
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Bowel diverticulosis, Hyperextensibility of the finger joints, Hyperextensibil...	OMIM:130000
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the capital femor...	OMIM:613805
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Primary microcephaly	OMIM:245570
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, High, narrow palate, Ethmoidal encephalocele, Broad proximal phalanges of the hand...	OMIM:607597
Ullrich Congenital Muscular Dystrophy	Abnormal palate morphology, Adducted thumb, Torticollis, Scoliosis, Elbow flexion contracture, Ky...	ORPHA:75840
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Dental crowding, Mandibular prognathi...	OMIM:269300
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac...	DECIPHER:46
Apert Syndrome	Narrow palate, Esophageal atresia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Fi...	ORPHA:87
Mcdonough Syndrome	Abnormal palate morphology, Short philtrum, Mandibular prognathia, Open bite, Micrognathia, Promi...	ORPHA:2471
Antley-Bixler Syndrome	Short nose, Anteverted nares, Narrow mouth, Choanal atresia, Cleft palate, Long philtrum, Hypopla...	ORPHA:83
C Syndrome	Short nose, Radial deviation of finger, Dislocated radial head, Thick anterior alveolar ridges, A...	OMIM:211750
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Torus palatinus, M...	OMIM:144750
Zechi-Ceide Syndrome	Thin vermilion border, Short metatarsal, Short philtrum, Wide nose, Cerebellar vermis hypoplasia,...	ORPHA:217017
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Clinodactyly of the 5th finger, Bilateral cleft palate, Intestinal malrotation, Broad thumb, Micr...	ORPHA:2001
Carey-Fineman-Ziter Syndrome	Thin vermilion border, Short nose, Cerebral calcification, Anteverted nares, Glossoptosis, High p...	ORPHA:1358
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Cerebral atrophy, Short nose, Dental crowding, High palate, Narrow mouth, Long philtrum	OMIM:615539
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macrocephaly, Bilateral cleft palate, Polymicrogyria, Bifid nasal tip, High palate, Bilateral cle...	OMIM:618874
Axenfeld-Rieger Syndrome	Anal stenosis, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Hypodontia, W...	ORPHA:782
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Distal Xq28 Microduplication Syndrome	Thick lower lip vermilion, Dental crowding, Short lingual frenulum, High palate, Hypoplasia of th...	ORPHA:293939
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Glossoptosis, Broad femoral neck, Long philtrum, Butterfly vertebrae, Rhizomelia,...	OMIM:611209
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Finger syndactyly, Non-midline cleft of the upper lip, Scoliosis, Split hand...	ORPHA:1300
Gorlin-Chaudhry-Moss Syndrome	Abnormal metacarpal morphology, Oligodontia, Abnormality of the dentition, Hypoplasia of the maxi...	ORPHA:2095
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Kyphoscoliosis, Odontogenic keratocysts of the jaw, Short dist...	OMIM:109400
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Narrow mouth, Mandibular aplasia, Agenesis of corpus callosum, Microglossia, Absent nares, Aplasi...	ORPHA:990
Seckel Syndrome 8	Microcephaly, Convex nasal ridge, Micrognathia	OMIM:615807
Spastic Paraplegia 50, Autosomal Recessive	Hypoplasia of the corpus callosum, Short philtrum, Mandibular prognathia, High palate, Microcepha...	OMIM:612936
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal dental enamel morphology, Cerebral calcification, Abnormality of the dentition, Camptoda...	ORPHA:3220
Trisomy 9P	Clinodactyly of the 5th finger, Dental crowding, Non-midline cleft of the upper lip, Scoliosis, K...	ORPHA:236
Birk-Barel Syndrome	Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion...	OMIM:612292
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Umbilical hernia, Anterior...	OMIM:255800
Schneckenbecken Dysplasia	Stillbirth, Short nose, Macrocephaly, Short ribs, Dumbbell-shaped long bone, Bilateral talipes eq...	OMIM:269250
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Thin vermilion border, Short nose, Abnormal palate morphology, Thick lower lip vermilion, Antever...	ORPHA:2701
Temple Syndrome	Short philtrum, Wide nose, Anteverted nares, Scoliosis, High palate, Micrognathia, Bifid uvula, C...	OMIM:616222
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Arachnodactyly, Umbilical hernia, Joint hypermobility, Craniosynostosis, ...	OMIM:182212
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Abnorm...	ORPHA:3409
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Short nose, Retrognathia, Anteverted nares, High palate, Recurrent upper respiratory tract infect...	OMIM:614069
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth	OMIM:615887
Myhre Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Gingival cleft, Craniofacial hyperostosis,...	ORPHA:2588
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Microcephaly, Convex nasal ridge, Micrognathia, Patellar hypoplasia	OMIM:251240
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Metaphyseal irregularity, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped ...	OMIM:307800
Amelogenesis Imperfecta, Type Ih	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:616221
Autosomal Recessive Stickler Syndrome	Genu valgum, Platyspondyly, Micrognathia, Cleft palate, Malar flattening, Irregular vertebral end...	ORPHA:250984
Epilepsy, Progressive Myoclonic, 9	Short thumb, Simplified gyral pattern, Agenesis of corpus callosum, Microglossia	OMIM:616540
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Intestinal malrotation, Syndactyly, Enamel agenesis, Long philtrum, Anteverted nares, Hemivertebr...	OMIM:614701
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Low posterior hairline, Recurrent sinusitis, Joint hypermobility, Craniosynostosis, Overlapping t...	OMIM:213980
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, Oligodontia, 2-3 toe s...	ORPHA:37553
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Anterior encephalocele, Amelia, Scoliosis, Cleft upper lip...	OMIM:601357
Faciocardiomelic Syndrome	Osteopenia, Polydactyly, Hyperplasia of the maxilla, Anteverted nares, Cuboid-shaped vertebral bo...	OMIM:612731
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Clinodactyly of the 5th finger, Dental crowding, Broad toe, High palate, Narr...	OMIM:612582
Congenital Syphilis	Periostitis, Osteochondrosis, Large placenta, Tibial bowing, Notched primary central incisor, Hig...	ORPHA:499009
Blomstrand Lethal Chondrodysplasia	Short nose, Rhizomelia, Platyspondyly, Flared metaphysis, Increased bone mineral density, Antever...	ORPHA:50945
Microcephaly-Deafness-Intellectual Disability Syndrome	Microcephaly, Abnormal palate morphology, Micrognathia, Everted lower lip vermilion	ORPHA:2533
Developmental And Epileptic Encephalopathy 75	Hypoplasia of the corpus callosum, Short nose, Secondary microcephaly, Short philtrum, Frontal co...	OMIM:618437
Chromosome 16P13.3 Deletion Syndrome, Proximal	Clinodactyly of the 5th finger, Low hanging columella, High palate, Death in infancy, Microcephal...	OMIM:610543
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Macrocephaly, Narrow mouth, Everted lower lip vermilion, Microcephaly, Downturned corners of mout...	OMIM:618089
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Congenital finger flexion contractures, Kyphosis, Joint hypermobil...	ORPHA:536516
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the upper limbs, Hypoplastic nasal septum, Anteverted nares...	ORPHA:40366
Vulto-Van Silfhout-De Vries Syndrome	2-3 toe cutaneous syndactyly, Thick lower lip vermilion, Mandibular prognathia, Prominent fingert...	OMIM:615828
Duplication Of The Pituitary Gland	Supernumerary tooth, Retrognathia, Abnormality of joint mobility, Encephalocele, Volvulus, Cleft ...	ORPHA:314621
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Thin vermilion border, Kyphoscoliosis, Death in childhood, Second metatarsal ...	OMIM:214150
Parietal Foramina 1	Wormian bones, Cleft upper lip, Cleft palate, Encephalocele	OMIM:168500
Hallermann-Streiff Syndrome	Hyperlordosis, Everted lower lip vermilion, Joint hypermobility, Narrow nose, Decreased number of...	OMIM:234100
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Advanced eruption of teeth, Macrocephaly, Widely spaced teeth, Progressive microcepha...	OMIM:617865
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Prominent interphalangeal joints, Anteverted nares, Short palm, Short phalanx of finger, Cleft pa...	OMIM:215150
Laron Syndrome	Delayed eruption of teeth, Microdontia, Tooth agenesis, Depressed nasal ridge, Micrognathia, Shor...	ORPHA:633
Facial Clefting, Oblique, 1	Cleft upper lip, Tessier number 4 facial cleft, Cleft palate	OMIM:600251
Kagami-Ogata Syndrome	Kyphoscoliosis, Retrognathia, Anteverted nares, Hypoplasia of the maxilla, Micrognathia, Coxa val...	OMIM:608149
Chromosome 22Q11.2 Deletion Syndrome, Distal	Cleft palate, Malar flattening, Smooth philtrum, Thin upper lip vermilion, Underdeveloped nasal alae	OMIM:611867
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Chondrocalcinosis, Hyperextensibility at elbow, Periarticular soft-tissue ma...	OMIM:601492
Cree Mental Retardation Syndrome	Rocker bottom foot, Webbed neck, Cleft soft palate, Cutaneous finger syndactyly, Micrognathia, Ap...	OMIM:606851
Multiple Epiphyseal Dysplasia Type 4	Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bone morphol...	ORPHA:93307
Weill-Marchesani Syndrome 1	Narrow palate, Broad phalanges of the hand, Tooth malposition, Scoliosis, Broad metacarpals, Broa...	OMIM:277600
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane...	OMIM:277410
Intellectual Developmental Disorder, Autosomal Dominant 73	Retrognathia, Long nose, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Prominent interpha...	OMIM:620450
Otopalatodigital Syndrome Type 2	Glossoptosis, Myelomeningocele, Hypoplastic frontal sinuses, Anodontia, Fibular aplasia, Tarsal s...	ORPHA:90652
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Subperiosteal bone resorption, Delayed eruption of teeth, Delayed epiphyseal ossificatio...	ORPHA:289157
Coffin-Siris Syndrome 5	Hypoplasia of the corpus callosum, Thick lower lip vermilion, Short philtrum, Wide nose, Dandy-Wa...	OMIM:616938
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Increased blood urea nitrogen, Hypercalcemia, Craniosynostosis...	ORPHA:251004
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon...	OMIM:224300
Juberg-Hayward Syndrome	Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Abnormality...	OMIM:216100
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo...	OMIM:146510
Atelosteogenesis, Type I	Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia...	OMIM:108720
Braddock-Carey Syndrome 1	Talipes equinovarus, Anteverted nares, Everted lower lip vermilion, Camptodactyly, Microcephaly, ...	OMIM:619980
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Anteverted nares, Wide mouth, Long philtrum, Wide nasal bridge, Deep philtrum, Depressed nasal br...	ORPHA:1825
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Long nose, Short nose, Short philtrum, Delayed eruption of teeth, Low hanging columella, Antevert...	OMIM:615866
19P13.3 Microduplication Syndrome	Cerebral atrophy, Short philtrum, Narrow mouth, Microcephaly, Micrognathia, Cleft palate, Thick v...	ORPHA:447980
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Wormian bones, Femoral bowing, Abnormality of the dentition, Bowi...	OMIM:617952
Congenital Myopathy 20	Short finger, Talipes equinovarus, Scoliosis, High palate, Congenital contracture, Micrognathia, ...	OMIM:620310
Rothmund-Thomson Syndrome, Type 2	Kyphoscoliosis, Supernumerary tooth, Short nose, Talipes equinovarus, Delayed eruption of teeth, ...	OMIM:268400
Acrofrontofacionasal Dysostosis 1	Acetabular dysplasia, Oligodontia, Mandibular prognathia, Short metacarpal, Broad thumb, Cleft up...	OMIM:201180
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Decreased calvarial ossification, Micrognathia, Cleft palate, Brachydactyly, Cranio...	OMIM:618265
Chromosome 15Q26-Qter Deletion Syndrome	Microcephaly, Micrognathia, Short middle phalanx of finger, Brachydactyly, Cryptorchidism, Wide n...	OMIM:612626
Marbach-Rustad Progeroid Syndrome	Convex nasal ridge, Eruption failure, Narrow mouth, Microcephaly, Micrognathia, Smooth philtrum, ...	OMIM:619322
Pentasomy X	Clinodactyly of the 5th finger, Short foot, Microcephaly, Camptodactyly of finger, Micrognathia, ...	ORPHA:11
Gand Syndrome	Short philtrum, Broad nasal tip, Wide mouth, Wide nasal bridge, Thin upper lip vermilion	OMIM:615074
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Narrow palate, Retrognathia, Wi...	OMIM:620428
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Desmosterolosis	Abnormality of the nose, Short nose, Retrognathia, Abnormal cortical gyration, Macrocephaly, Poly...	ORPHA:35107
Ellis-Van Creveld Syndrome	Genu valgum, Talipes equinovarus, Delayed eruption of teeth, Abnormal alveolar ridge morphology, ...	OMIM:225500
Spastic Paraplegia 52, Autosomal Recessive	Short philtrum, High palate, Microcephaly, Wide mouth, Thick vermilion border, Prominent nose, Bu...	OMIM:614067
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Intellectual Developmental Disorder, Autosomal Recessive 13	Short philtrum, Slender finger, Cleft upper lip, Downturned corners of mouth, Smooth philtrum, Sh...	OMIM:613192
Lissencephaly, X-Linked, 2	Wide anterior fontanel, Long upper lip, High palate, Micrognathia, Prominent nasal bridge, Long p...	OMIM:300215
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Microdontia, H...	OMIM:601499
Schwartz-Jampel Syndrome	Flexion contracture of toe, Hyperlordosis, Wrist flexion contracture, Abnormally ossified vertebr...	ORPHA:800
Autosomal Dominant Robinow Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Umbilical hernia, Long philtrum, Anodontia, ...	ORPHA:3107
Metatropic Dysplasia	Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger...	ORPHA:2635
Rothmund-Thomson Syndrome	Osteopenia, Supernumerary tooth, Hypoplasia of the ulna, Reduced bone mineral density, Metaphysea...	ORPHA:2909
Coffin-Siris Syndrome 11	Esophageal atresia, Cleft soft palate, High palate, Low posterior hairline, Prominent metopic rid...	OMIM:618779
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost...	OMIM:241520
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Triphalangeal thumb, Finger syndactyly, Ectopic anus, Abnormality of the dentition, Microcephaly,...	ORPHA:2994
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Anteverted nares, Scoliosis, Cleft upper lip, Bifid uvula, Cleft palate, Bulbous nose, Wide nasal...	OMIM:300958
German Syndrome	Orofacial cleft, High palate, Limitation of joint mobility, Everted lower lip vermilion, Camptoda...	ORPHA:2077
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati...	ORPHA:300298
Crane-Heise Syndrome	Talipes equinovarus, Finger syndactyly, Anteverted nares, Decreased skull ossification, Abnormall...	ORPHA:1512
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Genu valgum, Abnormal metacarpal morphology, Anosmia, Br...	ORPHA:1295
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Talipes equinovarus, Tibial b...	OMIM:612651
Syngap1-Related Developmental And Epileptic Encephalopathy	Thin vermilion border, High palate, Narrow mouth, Microcephaly, Wide mouth	ORPHA:544254
Meckel Syndrome, Type 8	Polydactyly, Occipital encephalocele, Short nose, Encephalocele, Depressed nasal ridge, Cleft upp...	OMIM:613885
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Retrognathia, Rocker bottom foot, Death in childhood, Camptodactyly, ...	OMIM:604273
Trichorhinophalangeal Syndrome, Type I	Hyperlordosis, Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of ...	OMIM:190350
Lissencephaly 6 With Microcephaly	Hypoplasia of the corpus callosum, Widely spaced teeth, Polymicrogyria, Microlissencephaly, Antev...	OMIM:616212
Emanuel Syndrome	Kyphoscoliosis, Redundant neck skin, Broad jaw, Delayed eruption of teeth, Tooth malposition, Den...	ORPHA:96170
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Short nose, Macrocephaly, Short philtrum, Wide nose, Dental crowding, Relative macrocephaly, High...	ORPHA:251028
Fryns-Smeets-Thiry Syndrome	Thick lower lip vermilion, Short philtrum, Narrow nasal bridge, Everted lower lip vermilion, Micr...	ORPHA:2058
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Macrocephaly, Widely spaced teeth, Anteverted nares, High palate, Narrow mouth, Microcephaly, Pro...	OMIM:300260
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Metaphyseal cupping, Bowing of the long bones, Genu varum, Micromelia...	ORPHA:85166
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Anteverted na...	OMIM:619135
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose, Hypoplasia of the maxilla, Cleft palate, Brachydactyly, Short distal phala...	OMIM:614261
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cerebral atrophy, Short nose, Thin vermilion border, Abnormal septum pellucidum morphology, Antev...	ORPHA:171839
14Q11.2 Microduplication Syndrome	Exaggerated cupid's bow, Microcephaly, Micrognathia, Wide nasal bridge, Depressed nasal bridge	ORPHA:261229
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Fryns Syndrome	Aganglionic megacolon, Clinodactyly of the 5th finger, Non-midline cleft of the upper lip, Ectopi...	ORPHA:2059
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome	Genu valgum, Depressed nasal ridge, Tented upper lip vermilion, Malar flattening, Joint hypermobi...	ORPHA:2104
Arthrogryposis And Ectodermal Dysplasia	Kyphoscoliosis, Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Camptodactyly, C...	OMIM:601701
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated radial head, High palate, Narro...	OMIM:602471
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Bifid uvula, Unilateral cleft lip, Cleft palate	ORPHA:2736
Distal 22Q11.2 Microdeletion Syndrome	Sandal gap, Hyperlordosis, Arachnodactyly, Short distal phalanx of finger, Joint hypermobility, C...	ORPHA:261330
Thomas Syndrome	Cleft upper lip, Cleft palate	ORPHA:3316
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormal columella morphology, Talipes equinovarus, Abnormal finger morpholo...	ORPHA:436003
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormal lower lip morphology, Tooth agenesis, Microcephaly, Cerebral cortical atrophy, Micrognat...	ORPHA:1166
Marden-Walker Syndrome	High, narrow palate, Inferior cerebellar vermis hypoplasia, Dandy-Walker malformation, Anteverted...	OMIM:248700
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Short philtrum, Anteverted nares, Mandibular prognathia, High palate, Prominent metopic ridge, Fl...	OMIM:620001
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Webbed neck, Joint stiffness, Micrognathia, Cleft palate, Short distal phala...	ORPHA:2516
Anencephaly 2	Anencephaly, Median cleft palate, Bifid nose, Cleft maxillary alveolar ridge, Median cleft upper lip	OMIM:619452
Shprintzen-Goldberg Syndrome	Osteopenia, Retrognathia, High, narrow palate, Abnormal metaphysis morphology, Genu valgum, Abnor...	ORPHA:2462
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Non...	ORPHA:2549
Severe Intellectual Disability And Progressive Spastic Paraplegia	Hypoplasia of the corpus callosum, Everted upper lip vermilion, Short philtrum, High palate, Abno...	ORPHA:280763
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Genitopalatocardiac Syndrome	Non-midline cleft of the upper lip, Scoliosis, Postaxial hand polydactyly, Kyphosis, Micrognathia...	ORPHA:2075
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebral atrophy, Hypoplasia of the corpus callosum, Short philtrum, Hypodontia, Anteverted nares...	OMIM:618443
Skin Creases, Congenital Symmetric Circumferential, 1	Hypoplasia of the corpus callosum, Dandy-Walker malformation, High palate, Narrow mouth, Microcep...	OMIM:156610
Cowden Syndrome 5	Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the...	OMIM:615108
Foxp1 Syndrome	Short nose, Retrognathia, Macrocephaly, Mandibular prognathia, Downturned corners of mouth, Broad...	ORPHA:391372
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Dislocated radial head, Low posterior hairline, Malrotation of colon...	OMIM:122470
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:612529
Familial Isolated Hypoparathyroidism	Hypocalcemia, Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Everted upper lip vermilion, Conical tooth, Underdeveloped nasal alae, Hypoplastic ni...	OMIM:305100
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Hypocalcemia, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hy...	OMIM:612462
Developmental And Epileptic Encephalopathy 89	Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Death in childhood, Talipes eq...	OMIM:619124
Failure Of Tooth Eruption, Primary	Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth	OMIM:125350
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Rhizomelia, Mandibular prognathia, Relative macrocephaly, Broad thumb, Mesomelia, M...	OMIM:612813
Peters-Plus Syndrome	Limited elbow movement, Broad neck, Proximal placement of thumb, Short metacarpal, Syndactyly, Um...	OMIM:261540
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscular volume, Hypometh...	ORPHA:2169
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Kyphosis, Bifid uvula, Wide mouth, Symphalangism affecting the phalan...	ORPHA:2658
Chromosome 3Q29 Duplication Syndrome	Short nose, Macrocephaly, Microcephaly, Bulbous nose, Wide nasal bridge	OMIM:611936
Brain Malformations With Or Without Urinary Tract Defects	Hypoplasia of the corpus callosum, Short nose, Macrocephaly, Anteverted nares, Narrow mouth, Agen...	OMIM:613735
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Branchioskeletogenital Syndrome	Upper limb peromelia, Bifid uvula, Umbilical hernia, Craniosynostosis, Abnormality of the vertebr...	ORPHA:1299
Microcephaly 10, Primary, Autosomal Recessive	Cerebral atrophy, Cerebellar hemisphere hypoplasia, Choanal atresia, Reduced cerebral white matte...	OMIM:615095
19P13.13 Microdeletion Syndrome	Short nose, Macrocephaly, Optic nerve hypoplasia, Anteverted nares, High palate, Narrow mouth, Hy...	ORPHA:357001
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Nizon-Isidor Syndrome	Hypoplasia of the corpus callosum, High, narrow palate, Short philtrum, Anteverted nares, Narrow ...	OMIM:618872
Orofaciodigital Syndrome Ix	Bifid nasal tip, High palate, Abnormality of the dentition, Camptodactyly, Hand polydactyly, Clef...	OMIM:258865
Intellectual Developmental Disorder, Autosomal Dominant 39	Cerebral atrophy, Thin corpus callosum, Wide nasal base, Wide mouth, Wide nasal bridge	OMIM:616521
Acro-Renal-Mandibular Syndrome	Tracheoesophageal fistula, Kyphosis, Split foot, Hip dislocation, Hypoplasia of the ulna, Hypopla...	ORPHA:958
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Mandibular prognathia, Relative macrocephaly, Broad thumb, Mesomelia, Brachydactyly, ...	ORPHA:171866
Coffin-Siris Syndrome 6	Kyphoscoliosis, Retrognathia, High, narrow palate, Short philtrum, Micrognathia, Cleft palate, Br...	OMIM:617808
Osteogenesis Imperfecta, Type Iii	Wide anterior fontanel, Scoliosis, Tibial bowing, Kyphosis, Multiple prenatal fractures, Decrease...	OMIM:259420
Beaulieu-Boycott-Innes Syndrome	Long nose, Low hanging columella, Microcephaly, Carious teeth, Velopharyngeal insufficiency, Micr...	OMIM:613680
Dyssegmental Dysplasia, Silverman-Handmaker Type	Clubbing of fingers, Miscarriage, Short ribs, Narrow mouth, Micromelia, Microcephaly, Micrognathi...	ORPHA:1865
Schimke Immuno-Osseous Dysplasia	Ischemic stroke, Wide capital femoral epiphyses, Abnormal femoral head morphology, Abnormal intes...	ORPHA:1830
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Calcaneal epiph...	ORPHA:79345
Kenny-Caffey Syndrome, Type 1	Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Carious teeth, Hypomagnesemia	OMIM:244460
Chromosome 9P Deletion Syndrome	Narrow palate, Thin vermilion border, High, narrow palate, Retrognathia, Anteverted nares, High p...	OMIM:158170
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization	OMIM:614832
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Retrognathia, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Meckel diverti...	ORPHA:163961
Loeys-Dietz Syndrome 5	Kyphoscoliosis, Retrognathia, Flexion contracture of toe, Cleft soft palate, Talipes equinovarus,...	OMIM:615582
Osteogenesis Imperfecta, Type Xxii	Abnormal blood phosphate concentration, Reduced bone mineral density, Multiple prenatal fractures...	OMIM:619795
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification	OMIM:618618
Distal 22Q11.2 Microduplication Syndrome	Short philtrum, Wide nose, Webbed neck, Mandibular prognathia, Scoliosis, High palate, Tapered fi...	ORPHA:261337
Intellectual Developmental Disorder, X-Linked 103	Polymicrogyria, Anteverted nares, Wide mouth	OMIM:300982
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Retrognathia, Thin vermilion border, Proximal placement of thumb, Low hanging columel...	OMIM:212066
Chromosome 16Q22 Deletion Syndrome	Wide anterior fontanel, High palate, Prominent metopic ridge, Micrognathia, Broad hallux, Wormian...	OMIM:614541
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
15Q24 Microdeletion Syndrome	Abnormal palate morphology, Thick lower lip vermilion, Wide nasal base, Narrow mouth, Abnormality...	ORPHA:94065
Insulin-Like Growth Factor I, Resistance To	Hypoplasia of the corpus callosum, Retrognathia, High palate, Narrow mouth, Microcephaly, Microgn...	OMIM:270450
Meier-Gorlin Syndrome 1	Absent sternal ossification, Short ribs, Microdontia, Death in infancy, Joint hypermobility, Genu...	OMIM:224690
Blepharonasofacial Malformation Syndrome	Long philtrum, Wide nose, Finger syndactyly, Non-midline cleft of the upper lip, Low posterior ha...	ORPHA:1252
Polyvalvular Heart Disease Syndrome	Short philtrum, Dental crowding, High palate, Prominent nose, Micrognathia, Joint hypermobility	ORPHA:228410
Infantile Spasms-Broad Thumbs Syndrome	Microcephaly, Cerebral cortical atrophy, Micrognathia, Broad thumb, Convex nasal ridge, Aplasia/H...	ORPHA:3173
Stevenson-Carey Syndrome	Hypoplasia of the corpus callosum, Anteverted nares, Prominent nasal tip, Narrow mouth, Downturne...	OMIM:611961
Moebius Syndrome	Clinodactyly of the 5th finger, Breast aplasia, Aplasia/Hypoplasia of the thumb, Finger syndactyl...	ORPHA:570
Craniodigital-Intellectual Disability Syndrome	Short nose, Micrognathia, Narrow nasal bridge	ORPHA:1514
Baker-Gordon Syndrome	Short nose, Prominent nasal tip, Thin upper lip vermilion, Smooth philtrum	OMIM:618218
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Short foot	OMIM:611263
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Chromosome 1Q41-Q42 Deletion Syndrome	Widely spaced teeth, Short philtrum, Sandal gap, Talipes equinovarus, Anteverted nares, Scoliosis...	OMIM:612530
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Recurrent mandibular subluxations, Hypodontia, Gingival hyperkeratosis, Gingival over...	OMIM:225410
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Cleft palate	OMIM:120433
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Thin vermilion border, Short phi...	OMIM:617360
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Widely spaced teeth, Bilateral choanal atresia, Conical tooth, 2-3 toe syndactyly, Selective toot...	OMIM:106260
Adducted Thumbs Syndrome	High, narrow palate, Cerebral dysmyelination, High palate, Microcephaly, Velopharyngeal insuffici...	OMIM:201550
Larsen-Like Syndrome	Kyphoscoliosis, Clinodactyly of the 5th finger, Joint dislocation, Wide anterior fontanel, Radial...	OMIM:608545
Seckel Syndrome 1	Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr...	OMIM:210600
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, A...	ORPHA:2839
Chime Syndrome	Supernumerary tooth, Short philtrum, Aplasia/Hypoplasia of the phalanges of the toes, Abnormality...	ORPHA:3474
Cerebrofacioarticular Syndrome	Osteopenia, Anal stenosis, Bilateral choanal atresia/stenosis, Tracheomalacia, Narrow mouth, Camp...	ORPHA:314679
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Limitation of joint mobili...	ORPHA:1801
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Adducted thumb, Encephalocele, Short ribs, Limitation of joint mobility, Bowing of the long bones...	OMIM:224400
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplasia of the corpus callosum, Retrognathia, Preaxial polydactyly, High palate, Bilateral tal...	OMIM:618142
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Broad thumb, M...	OMIM:180700
Larsen Syndrome	Multiple carpal ossification centers, Knee dislocation, Short metacarpal, Dislocated wrist, Joint...	OMIM:150250
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Microcephaly, Micrognathia, Tooth agenesis	ORPHA:1964
Trisomy 12P	Short nose, Everted lower lip vermilion, Anal atresia, Downturned corners of mouth, Cleft palate,...	ORPHA:1699
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Retrognathia, Long nose, Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, Abnorma...	ORPHA:2636
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Broad thumb, Mesomelia, Syndactyly, Long philtrum, Clinodactyly, Triangular mouth, Ante...	OMIM:616894
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Hyperlordosis, Flat acetabular roof, Limited knee extension, Long...	OMIM:618870
Wieacker-Wolff Syndrome	Retrognathia, Proximal placement of thumb, Talipes equinovarus, Congenital foot contractures, Bro...	OMIM:314580
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Delayed ossification of carpal bones, Short dental root, Biconcave vertebral bodi...	OMIM:271510
Bor Syndrome	Retrognathia, Cleft palate, Branchial cyst	ORPHA:107
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Esophageal atresia, Progressive microcephaly, Anteverted nares, Choanal atresia, Micr...	OMIM:610536
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Cowden Syndrome 6	Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the...	OMIM:615109
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli...	OMIM:183600
Amelogenesis Imperfecta, Type If	Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color	OMIM:616270
Odontotrichoungual-Digital-Palmar Syndrome	Short first metatarsal, Mandibular prognathia, Short distal phalanx of toe, Natal tooth, Thick ve...	OMIM:601957
Epidermolysis Bullosa, Junctional 1B, Severe	Death in infancy, Pyloric stenosis, Carious teeth, Enamel hypoplasia, Syndactyly	OMIM:226700
Eec Syndrome	Orofacial cleft, Decreased response to growth hormone stimulation test, Proximal placement of thu...	ORPHA:1896
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Metacarpal osteolysis, Wrist swelling, Abnormality of the wrist, Carpal osteolysis, Limitation of...	ORPHA:2774
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Abnormality of the neck, Death in early adulthood, Dental crowding, Premature loss of...	OMIM:608612
Frontofacionasal Dysplasia	Hypoplasia of the corpus callosum, Short nose, Tessier cleft, Non-midline cleft of the upper lip,...	ORPHA:1791
Treacher Collins Syndrome 2	Retrognathia, Choanal atresia, Micrognathia, Cleft palate, Malar flattening, Microretrognathia, C...	OMIM:613717
Potocki-Lupski Syndrome	Hypoplasia of the corpus callosum, Dental crowding, Prominent nasal tip, Mandibular prognathia, H...	OMIM:610883
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Broad thumb, Overlapping toe, Short philtrum, Anteverted nares, Clef...	ORPHA:435638
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Retrognathia, Clinodactyly of the 5th finger, Bifid nasal tip, Oligodactyly, Umbilical hernia, Br...	OMIM:619758
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Branchial anomaly, Oligodontia, Scoliosis, High palate, Furrowed tongue, Vertebral se...	ORPHA:453499
17P11.2 Microduplication Syndrome	Hypoplasia of the corpus callosum, Open bite, Microcephaly, Abnormal dental morphology, Micrognat...	ORPHA:1713
Sweeney-Cox Syndrome	Short philtrum, Low hanging columella, High palate, Narrow mouth, Median cleft palate, Anal atres...	OMIM:617746
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Orofacial Cleft 14	Median cleft upper lip	OMIM:615892
Intellectual Developmental Disorder, Autosomal Dominant 61	Prominent nasal bridge, Wide mouth, Smooth philtrum, Wide nasal bridge, Thin upper lip vermilion	OMIM:618009
Baraitser-Winter Syndrome 2	Secondary microcephaly, Orofacial cleft, Retrognathia, Wide mouth, Pachygyria, Agenesis of corpus...	OMIM:614583
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Wide nasal base, Femoral bowing, Clubbing, Tibial bowing, Death in in...	OMIM:601559
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Vertebral compression fracture, Scoliosis, Microdontia,...	OMIM:112240
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Hypoplasia of the corpus callosum, Thick vermilion border, Macrodontia of permanent maxillary cen...	OMIM:620114
Arthrogryposis, Distal, Type 2A	Short nose, Pursed lips, Dental crowding, Mandibular prognathia, Whistling appearance, High palat...	OMIM:193700
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Majeed Syndrome	Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid...	OMIM:609628
ERI1-related disease	Dislocated radial head, Oligodactyly, Syndactyly, Slender metacarpals, Wormian bones, Patellar di...	OMIM:608739
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Vertebral wedging, 2-3 toe syndactyly, Short ribs, Missing ri...	OMIM:617866
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Hypoplasia of the corpus callosum, Short nose, Thin corpus callosum, Short philtrum, Anteverted n...	OMIM:614105
Feingold Syndrome	Orofacial cleft, Annular pancreas, Clinodactyly of the 5th finger, Esophageal atresia, Anteverted...	ORPHA:1305
Blepharocheilodontic Syndrome 1	Neural tube defect, Conical tooth, Choanal atresia, Anal atresia, Cleft upper lip, Hypodontia, Cu...	OMIM:119580
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue, Micromelia, Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger	ORPHA:2928
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Intestinal lymphangiectasia, Narrow mouth, Depressed nasal bridge, Irregular dentition	OMIM:616006
Naegeli-Franceschetti-Jadassohn Syndrome	Supernumerary tooth, Yellow-brown discoloration of the teeth, Premature loss of teeth, Abnormalit...	ORPHA:69087
Bent Bone Dysplasia Syndrome 1	Short clavicles, Gingival overgrowth, Coronal craniosynostosis, Decreased calvarial ossification,...	OMIM:614592
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Platyspondyly, Vertebral compression fracture, Angulated humerus, Wormian...	OMIM:616229
Ruvalcaba Syndrome	Short nose, Thin vermilion border, Dental crowding, Narrow mouth, Microcephaly, Convex nasal ridge	ORPHA:3121
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Wide anterior fontanel, Decreased skull ossification, Thickened nuchal skin fold, S...	OMIM:263210
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Enterocolitis, Micrognathia, Death in childhood	OMIM:301108
Craniosynostosis And Dental Anomalies	Dental crowding, Clinodactyly, Narrow palate, Short phalanx of finger, Broad hallux, Convex nasal...	OMIM:614188
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Pseudoachondroplasia	Abnormal form of the vertebral bodies, Flat acetabular roof, Increased laxity of ankles, Joint st...	ORPHA:750
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Cerebral atrophy, High, narrow palate, Macrocephaly, Thick lower lip vermilion, Anteverted nares,...	OMIM:617268
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Congenital muscular tortic...	ORPHA:2916
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Umbilical hernia, Long philtrum, Adducted thumb, Anteverted nares, Scoliosis, Elbow flexion contr...	OMIM:616266
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Meckel diverticulum, Cerebellar vermis hypoplasia, ...	OMIM:311900
Distal Deletion 19P	Short philtrum, Hypoplasia of the maxilla, Arachnodactyly, Cleft palate, Umbilical hernia, Joint ...	ORPHA:96129
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Limited elbow extension, Orofacial cleft, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Sco...	ORPHA:502434
Bartsocas-Papas Syndrome 1	Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absent radius, Axillary pterygium, Tali...	OMIM:263650
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Short nose, Macrocephaly, Abnormal fibula morphology, Sandal gap, Abnormal dental e...	ORPHA:1812
Distal Deletion 17Q	Abnormal thumb morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Aplas...	ORPHA:1597
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Retrognathia, Gingival overgrowth, 2-3 toe syndactyly, High palate, Bilateral tali...	OMIM:618186
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Short nose, Progressive microcephaly, Cerebral white matter atrophy, High palate, Abnormal perive...	ORPHA:329178
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Angelman Syndrome	Widely spaced teeth, Mandibular prognathia, Scoliosis, Protruding tongue, Hypoplasia of the maxil...	OMIM:105830
Holoprosencephaly	Solitary median maxillary central incisor, Abnormal form of the vertebral bodies, Anosmia, Tooth ...	ORPHA:2162
Femoral-Facial Syndrome	Orofacial cleft, Short nose, Abnormal fibula morphology, Preaxial foot polydactyly, Scoliosis, Ve...	ORPHA:1988
Rhizomelic Chondrodysplasia Punctata	Abnormal metaphysis morphology, Rhizomelia, Abnormality of the dentition, Microcephaly, Limb unde...	ORPHA:177
Smith-Kingsmore Syndrome	Hypoplasia of the corpus callosum, Short nose, Megalencephaly, Macrocephaly, Hemimegalencephaly, ...	OMIM:616638
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Variant Abeta2M Amyloidosis	Abnormal salivary gland morphology, Intestinal perforation, Abnormality of the tongue	ORPHA:314652
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	High palate, Cleft palate, Malar flattening, Open mouth, Overlapping toe	OMIM:620021
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Anosmia, Microcephaly, Depressed nasal bridge	OMIM:302950
Lambert Syndrome	Wide mouth, Malar flattening	OMIM:245550
Moebius Syndrome	Radial deviation of finger, Talipes equinovarus, High palate, Abnormality of the dentition, Campt...	OMIM:157900
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim...	OMIM:600785
Kinsship Syndrome	Dislocated radial head, Death in infancy, Mesomelia, Wide mouth, Coxa valga, Hip dislocation, Pol...	OMIM:619297
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Short ribs, Cleft palate, Cystic hygroma, Microretro...	OMIM:200610
Craniofacial-Deafness-Hand Syndrome	Short nose, Hypoplasia of the maxilla, Malar flattening, Narrow naris, Depressed nasal bridge	OMIM:122880
Intellectual Developmental Disorder, Autosomal Dominant 65	Clinodactyly of the 5th finger, Short philtrum, Anteverted nares, Short foot, Low posterior hairl...	OMIM:619320
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Retrognathia, Anteverted nares, High palate, Prominent nasal bridge, Wide mouth	OMIM:615722
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Hypocalc...	OMIM:259700
Frank-Ter Haar Syndrome	Short philtrum, Delayed eruption of teeth, Premature loss of teeth, Gingival overgrowth, Mandibul...	ORPHA:137834
Meier-Gorlin Syndrome 4	Breast hypoplasia, Thick lower lip vermilion, Narrow mouth, Microcephaly, Hypoplasia of the maxil...	OMIM:613804
Hartsfield Syndrome	Wide nose, Hypoplasia of the frontal bone, Ectrodactyly, Cleft upper lip, Cleft palate, Syndactyl...	OMIM:615465
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Butterfly vertebrae, Fused cervical vertebrae, Esophageal atresia, Wide nose, Webbe...	OMIM:619227
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo...	ORPHA:79493
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Thick lower lip vermilion, Anteverted nares, Tented upper lip vermilion, Thin upper l...	OMIM:619854
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Abnormal thumb morphology, Mandibular prognathia, Everted lower lip vermilion, Pr...	ORPHA:324410
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Cervical C2/C3 vertebral fusion, Webbed neck, Hammertoe, Shoulder dislocation, High p...	OMIM:618000
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Long nose, Retrognathia, Narrow mouth, High palate, Micrognathia, Cleft palate	OMIM:301091
Amelo-Onycho-Hypohidrotic Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A...	ORPHA:1028
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Talipes equinovarus, Kyphoscoliosis, Tongue atrophy, Knee flexion contracture	ORPHA:496689
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Supernumerary tooth, Widely spaced teeth, Conical tooth, Microdontia, Prominent nose, Micrognathi...	ORPHA:90024
Popliteal Pterygium Syndrome	Popliteal pterygium, Spina bifida occulta, Cleft upper lip, Cutaneous finger syndactyly, Bifid uv...	OMIM:119500
Even-Plus Syndrome	Dysplastic corpus callosum, Short nose, Bifid nasal tip, High palate, Anal atresia, Depressed nas...	OMIM:616854
Weill-Marchesani Syndrome 2	Narrow palate, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the...	OMIM:608328
Trisomy 13	High, narrow palate, Scoliosis, Postaxial hand polydactyly, Abnormality of the dentition, Ectroda...	ORPHA:3378
Intermediate Osteopetrosis	Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Abnormality of the ...	ORPHA:210110
Ear-Patella-Short Stature Syndrome	Retrognathia, High, narrow palate, Clinodactyly of the 5th finger, Narrow mouth, Mandibular aplas...	ORPHA:2554
Nabais Sa-De Vries Syndrome, Type 1	Short nose, Optic nerve hypoplasia, Prominent nasal bridge, Simplified gyral pattern, Smooth phil...	OMIM:618828
Ohdo Syndrome, Sbbys Variant	Microdontia, Bulbous nose, Microcephaly, Micrognathia, Cleft palate, Long hallux, Cryptorchidism,...	OMIM:603736
Contractural Arachnodactyly, Congenital	Kyphoscoliosis, Wrist flexion contracture, Congenital finger flexion contractures, Limited knee e...	OMIM:121050
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Thin vermilion border, Short philtrum, Microcephaly, Micrognathia, Bulbous nose, Wide nasal bridge	ORPHA:261304
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Retrognathia, Short nose, Kyphoscoliosis, High palate, Joint contracture, Limb underg...	OMIM:618005
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Temporomandibular joint ankylosis, Mesomelia, Radi...	OMIM:164900
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Deep philtrum, Bulbous nose, Wide nasal bridge	ORPHA:1237
8Q21.11 Microdeletion Syndrome	Short philtrum, Wide nose, Exaggerated cupid's bow, High palate, Abnormality of the dentition, Na...	ORPHA:284160
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, High, narrow palate, Short nose, Abnormal metac...	ORPHA:3258
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Genu valgum, Short 1st metacarpal, Triphalangeal thumb, Short philtru...	ORPHA:949
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Retinal dystrophy, Retinal dysplasia, Pancytopen...	OMIM:617052
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, Sparse bone trabeculae,...	OMIM:600081
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Narrow palate, Finger syndactyly, Scoliosis, Hyperlordosis, Narrow mouth, Synostosis of carpal bo...	ORPHA:1323
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Hypoplasia of the corpus callosum, Oligodontia, Narrow mouth, Microcephaly, Downturned corners of...	OMIM:616817
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Rothmund-Thomson Syndrome Type 1	Finger symphalangism, Osteopenia, Abnormal ulnar metaphysis morphology, Patellar hypoplasia, Meta...	ORPHA:221008
Linear Skin Defects With Multiple Congenital Anomalies 2	Hypoplasia of the corpus callosum, Short nose, Microcephaly, Agenesis of corpus callosum, Long ph...	OMIM:300887
Developmental And Epileptic Encephalopathy 80	Hypoplasia of the corpus callosum, Triphalangeal thumb, Polymicrogyria, High palate, Tapered fing...	OMIM:618580
Short-Rib Thoracic Dysplasia 12	Short finger, Anencephaly, Short ribs, Median cleft palate, Hypoplastic scapulae, Intestinal malr...	OMIM:269860
Orofaciodigital Syndrome Type 14	Supernumerary tooth, Aplasia of the epiglottis, Deviation of the hallux, Webbed neck, Postaxial h...	ORPHA:434179
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo...	OMIM:206200
Microform Holoprosencephaly	Short nose, Orofacial cleft, Solitary median maxillary central incisor, Short philtrum, Narrow na...	ORPHA:280200
Frontofacionasal Dysplasia	Orofacial cleft, Midline defect of the nose, Short nose, Hypoplasia of the frontal bone, Cleft up...	OMIM:229400
Oculoskeletodental Syndrome	Hypocalcemia, Oligodontia, Elbow flexion contracture, Hypercalcemia, Macroglossia	OMIM:618440
Silver-Russell Syndrome 2	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Relative macrocephaly, Downturned corners of ...	OMIM:618905
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Distal Deletion 12Q	Kyphoscoliosis, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Long philtrum, Overla...	ORPHA:96149
Fetal Hydantoin Syndrome	Short nose, Everted lower lip vermilion, Depressed nasal ridge, Microcephaly, Cleft palate, Wide ...	ORPHA:1912
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Campomelic Dysplasia	Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Femor...	OMIM:114290
Neu-Laxova Syndrome 1	Rocker bottom foot, Broad neck, Swollen lip, Radial deviation of finger, Clinodactyly, Small plac...	OMIM:256520
Craniofrontonasal Syndrome	Hypoplastic nasal tip, Bifid nasal tip, Low posterior hairline, Umbilical hernia, Joint hypermobi...	OMIM:304110
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Retrognathia, High, narrow palate, Short philtrum, High palate, Congenital contracture, Micrognat...	OMIM:620156
Distal Duplication 6P	Thin vermilion border, Micrognathia, Prominent nasal bridge, Narrow mouth	ORPHA:1745
X-Linked Hypophosphatemia	Reduced bone mineral density, Craniosynostosis, Genu varum, Rickets, Shortening of the talar neck...	ORPHA:89936
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Camptodactyly of finger...	ORPHA:306542
Orofaciodigital Syndrome Type 6	Mesoaxial polydactyly, Abnormal oral frenulum morphology, Syndactyly, Hypoplasia of olfactory tra...	ORPHA:2754
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Short nose, Retrognathia, Short philtrum, Dental crowding, Oligodontia, High palate, Microcephaly...	OMIM:617061
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia	ORPHA:97289
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic an...	OMIM:611590
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cleft hard palate, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Talipes equino...	OMIM:300990
Native American Myopathy	Progressive congenital scoliosis, High palate, Camptodactyly, Congenital contracture, Micrognathi...	ORPHA:168572
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Kyphoscoliosis, Dental crowding, Bifid uvula, Short philtrum, Anteverted nares, Scoliosis, Osteop...	OMIM:309583
Barber-Say Syndrome	Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Wide nose, Delayed er...	OMIM:209885
Acrofrontofacionasal Dysostosis	Non-midline cleft of the upper lip, Dimple on nasal tip, High palate, Everted lower lip vermilion...	ORPHA:1784
Pai Syndrome	Midline defect of the nose, Encephalocele, Nasal polyposis, Abnormal oral frenulum morphology, Bi...	ORPHA:1993
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Retrognathia, Short philtrum, Joint contracture of the 5th finger, 2-3 toe syndactyly, Exaggerate...	OMIM:620098
Arthrogryposis, Distal, Type 1A	Retrognathia, Long nasal bridge, Narrow mouth, Trismus	OMIM:108120
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Eruption failure, High palate, Abnormality of the dentition, Micrognathia, Hyper...	ORPHA:476126
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of teeth, Conical tooth, Ab...	ORPHA:1071
Craniolenticulosutural Dysplasia	Osteopenia, Long philtrum, Delayed eruption of teeth, Anteverted nares, Wide anterior fontanel, S...	OMIM:607812
Meier-Gorlin Syndrome 3	Patellar hypoplasia, Talipes equinovarus, Tracheomalacia, Absent sternal ossification, Aplasia/Hy...	OMIM:613803
Schisis Association	Anencephaly, Tracheoesophageal fistula, Anal atresia, Microcephaly, Micromelia, Cleft palate, Uni...	ORPHA:63862
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Anteverted nares, Protruding tongue, Sinusitis, Micrognathia, Malar flattening, Macro...	OMIM:242860
Parenti-Mignot Neurodevelopmental Syndrome	Short philtrum, Prominent nasal tip, Micrognathia, Prominent nasal bridge, Craniosynostosis	OMIM:619873
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Glutamine Deficiency, Congenital	Hypoplasia of the corpus callosum, Short nose, Thin vermilion border, Anteverted nares, Neonatal ...	OMIM:610015
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Narrow palate, Anteverted nares, Narrow mouth, Choanal atresia, Tooth agenesis, Cleft palate, Mal...	ORPHA:1555
Basilicata-Akhtar Syndrome	Retrognathia, Adducted thumb, Anteverted nares, Camptodactyly, Short palm, Downturned corners of ...	OMIM:301032
Arthrogryposis, Distal, Type 2B3	Narrow mouth	OMIM:618436
Dpm1-Cdg	Cerebral atrophy, Secondary microcephaly, High, narrow palate, Sandal gap, Hypoplasia of the fron...	ORPHA:79322
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Low posterior hairline, Kyphosis, Arachnodactyly, Short ph...	ORPHA:280
Chondrodysplasia Punctata, Autosomal Dominant	Epiphyseal stippling, Scoliosis, Hip contracture, Knee flexion contracture, Hypoplasia of the nas...	OMIM:118650
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin vermilion border, Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Micrognathia, ...	OMIM:241410
Codas Syndrome	Short nose, Midline defect of the nose, Delayed eruption of teeth, Anteverted nares, Abnormal den...	ORPHA:1458
Chromosome 19Q13.11 Deletion Syndrome, Distal	Short nose, Thin vermilion border, Retrognathia, Solitary median maxillary central incisor, Short...	OMIM:613026
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Metopic depression, Short clavicles, Gingival overgrowth, Steep acetabular roof, Coro...	ORPHA:313855
Multiple Pterygium Syndrome, Lethal Type	Short finger, Multiple pterygia, Joint dislocation, Depressed nasal ridge, Micrognathia, Cleft pa...	OMIM:253290
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
4Q21 Microdeletion Syndrome	Thin vermilion border, Short philtrum, Abnormality of the dentition, Micromelia, Short palm, Down...	ORPHA:238750
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in childhood, Death in infancy, Micrognathia, Natal tooth, Sagittal craniosynostosis, Depre...	OMIM:616901
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G...	OMIM:273250
Osteogenesis Imperfecta, Type X	Tibial bowing, Dentinogenesis imperfecta, Joint hypermobility, Rhizomelia, Fibular bowing, Scolio...	OMIM:613848
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Broad distal phalanx of finger, Anteverted nares, 2-3 toe syndactyly, Scol...	ORPHA:404440
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Hyposmia, Cleft lip, Osteoporosis	OMIM:615271
Ramos-Arroyo Syndrome	Deviated nasal septum, Aganglionic megacolon, Smooth tongue, Anteverted nares, Narrow mouth, Cari...	ORPHA:1051
X-Linked Intellectual Disability, Najm Type	Optic nerve hypoplasia, Cerebral cortical atrophy, Microcephaly, Micrognathia, Long philtrum, Cer...	ORPHA:163937
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Genu valgum, Mandibular prognathia, Smooth philtrum, Hypoplasia of the zygomatic bone, Cryptorchi...	ORPHA:1778
Malan Overgrowth Syndrome	Hypoplasia of the corpus callosum, Macrocephaly, Narrow mouth, High palate, Hypoplasia of the bra...	ORPHA:420179
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	High palate, Choanal atresia, Tooth agenesis, Cleft palate, Abnormality of the sense of smell, Ap...	ORPHA:1135
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Enamel hypoplasia, Micro...	OMIM:212780
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal palate morphology, Abnormal fibula morphology, Abnormal femur morphology,...	ORPHA:2063
Stüve-Wiedemann Syndrome	Flexion contracture of finger, Scoliosis, Elbow flexion contracture, Abnormality of the dentition...	ORPHA:3206
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Webbed neck, Abnormal form of the vertebral bodies, Limitation...	ORPHA:1486
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Macrocephaly, Abnormality of primary teeth, Narrow mouth, Gingivitis, Wide nasal bridge	ORPHA:75496
Kapur-Toriello Syndrome	Clinodactyly of the 5th toe, Low hanging columella, Scoliosis, Low posterior hairline, Intestinal...	OMIM:244300
Van Der Woude Syndrome 1	Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit	OMIM:119300
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Retrognathia, High palate, Micrognathia, Short toe, Flexion contracture, Malar flattening, Short ...	ORPHA:98791
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Retrognathia, Redundant neck skin, Small proximal tibial epiphyses, Broad distal ...	ORPHA:96334
Opitz Gbbb Syndrome	Rectourethral fistula, Solitary median maxillary central incisor, Anteverted nares, Wide anterior...	OMIM:300000
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Mandibular prognathia, Wide nose, Depressed nasal ridge	ORPHA:2831
Gaucher Disease, Perinatal Lethal	Short nose, Everted upper lip vermilion, Retrognathia, Anteverted nares, Narrow mouth, Everted lo...	OMIM:608013
Saethre-Chotzen Syndrome	Long nose, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of th...	OMIM:101400
Congenital Disorder Of Glycosylation, Type Iie	Cerebral atrophy, Short nose, Hypoplasia of the corpus callosum, Retrognathia, Wide nose, Progres...	OMIM:608779
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Intestinal malrotation, Prominent nasal bridge, Smooth philtrum, Long philtrum, Wide ...	ORPHA:401935
Holoprosencephaly 3	Abnormality of the nose, Solitary median maxillary central incisor, Proboscis, Single naris, Micr...	OMIM:142945
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, 11 pairs of ribs, Webbed...	OMIM:105650
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short nose, Optic nerve hypoplasia, Progressive microcephaly, High palate, Microcephaly, Hypoplas...	OMIM:300749
Branchiootic Syndrome 1	Retrognathia, Branchial fistula	OMIM:602588
Temple-Baraitser Syndrome	Wide nose, Thick nasal alae, Downturned corners of mouth, Wide mouth, Thick vermilion border, Lon...	OMIM:611816
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short columella, Short nose, Aganglionic megacolon, Megalencephaly, Macrocephaly, Short philtrum,...	OMIM:613603
Monosomy 18P	Kyphoscoliosis, Short philtrum, Tooth malposition, Webbed neck, Low posterior hairline, Carious t...	ORPHA:1598
Teebi Hypertelorism Syndrome 1	Short nose, Dental crowding, Anteverted nares, Coronal craniosynostosis, Micrognathia, Natal toot...	OMIM:145420
Orofaciodigital Syndrome Xiv	Short ribs, Microcephaly, Aplasia of the epiglottis, Cerebellar vermis hypoplasia, Dandy-Walker m...	OMIM:615948
Cebalid Syndrome	Short nose, Anteverted nares, Polymicrogyria, High palate, Depressed nasal ridge, Depressed nasal...	OMIM:618774
Diaphanospondylodysostosis	Absent in utero rib ossification, Short nose, Hammertoe, Webbed neck, Tracheomalacia, Talipes equ...	OMIM:608022
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short nose, Inferior cerebellar vermis hypoplasia, Downturned corners of mouth, Cleft palate, Dee...	OMIM:618571
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Short philtrum, Cavum septum pellucidum, Cerebellar vermis hypoplasia, Micrognathia, Cleft palate...	OMIM:619074
Lymphedema-Distichiasis Syndrome	Webbed neck, Kyphosis, Cleft upper lip, Micrognathia, Cleft palate, Cystic hygroma	OMIM:153400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short nose, Widely spaced teeth, Mandibular prognathia, High palate, Bulbous nose, Downturned cor...	ORPHA:369891
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Abnormal metaphysis morphology, Supernumerary tooth, Thin vermilion border, Anteverted nares, Thi...	ORPHA:86818
Intellectual Developmental Disorder, Autosomal Dominant 64	Clinodactyly of the 5th finger, Short philtrum, Anteverted nares, Prominent fingertip pads, High ...	OMIM:619188
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, High, narrow palate, Joint hypermobility, Premature loss of tee...	ORPHA:369837
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Clinodactyly of the 5th finger, Short philtrum, Oligodontia, Tapered finge...	OMIM:609460
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Choanal atresia, Micrognathia, Cleft palate, Wide mouth, Malar f...	OMIM:154500
Fryns Syndrome	Rocker bottom foot, Broad neck, Proximal placement of thumb, Meckel diverticulum, Prominent finge...	OMIM:229850
Trisomy 1Q	Macrocephaly, Wide nose, Narrow mouth, Anal atresia, Cleft palate, Agenesis of corpus callosum, M...	ORPHA:261344
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Short philtrum, Tapered distal phalanges of finger, Anteverted nares, Scoliosis, Elbow flexion co...	ORPHA:371364
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Scoliosis, Short ribs, Femoral ...	OMIM:613091
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Absent or minimally ossified vertebral bodies, Abnormal metaphysis morphology, Eso...	ORPHA:93271
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Short 4th metacarpal, Abnor...	OMIM:127300
Meckel Syndrome 12	Rocker bottom foot, Anteverted nares, Cerebral hypoplasia, Microcephaly, Micrognathia, Bifid uvul...	OMIM:616258
Intellectual Developmental Disorder, Autosomal Dominant 1	Secondary microcephaly, Short nose, Retrognathia, Widely spaced teeth, Cerebellar vermis hypoplas...	OMIM:156200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Narrow mouth, Microcephaly, A...	OMIM:614833
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Narrow nasal ridge, Anteverted nares...	OMIM:236500
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Cleft palate, Death in infancy	OMIM:258320
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Webbed neck, Tracheomalacia, Short hard palate, Meningocele, Hydr...	ORPHA:1393
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft of the upper lip, Arthrogryposis multiplex congenita, Limitation of joint mobil...	ORPHA:1484
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Short nose, Globus pallidus calcification, Bulbous nose, Wide nasal bridge, Thin upper lip vermilion	OMIM:620292
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Sandal gap, Anteverted nares, High palate, Micromelia, Arachnodactyly, Convex nasal ...	ORPHA:1035
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Broad thumb, Cleft upper lip, Cleft palate, Bro...	OMIM:600987
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Otosclero...	OMIM:166220
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Micrognathia, Duodenal stenosis	ORPHA:2547
Peho Syndrome	Short nose, Abnormal palate morphology, Anteverted nares, Gingival overgrowth, Porencephalic cyst...	ORPHA:2836
Cowden Syndrome 1	Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the...	OMIM:158350
Cerebrooculonasal Syndrome	Hypoplasia of the corpus callosum, Short nose, Narrow palate, Macrocephaly, Solitary median maxil...	OMIM:605627
Fetal Akinesia Deformation Sequence	Pterygium, Scoliosis, Intestinal hypoplasia, Arthrogryposis multiplex congenita, Camptodactyly of...	ORPHA:994
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Retrognathia, Prominent fingertip pads, Hyperlordosis, Microdontia, Eclabion, Wide mouth, Joint h...	OMIM:619950
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short philtrum, Scoliosis, High palate, Everted lower lip vermilion, Tapered finger, ...	ORPHA:2479
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Anteverted nares, Oligodontia, Micrognathia, Wide mouth, Smooth philtrum, Long philtrum, Wide nas...	OMIM:602562
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Broad columella, Malar flattening, Brachydactyly, Dental malocclusion, Diastema, Un...	ORPHA:436245
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Narrow palate, Retrognathia, Narrow mouth, High palate, Depressed nasal tip, Microcephaly, Malar ...	OMIM:604314
Warburg Micro Syndrome 4	Hypoplasia of the corpus callosum, Secondary microcephaly, Anteverted nares, Narrow mouth, Cerebr...	OMIM:615663
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Convex nasal ridge, Dental crowding, Micrognathia, Narrow mouth	OMIM:615381
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short nose, Anterior open-bite malocclusion, Dental crowding, Anteverted nares, High palate, Ever...	OMIM:617877
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Downturned corners of mouth, High, narrow palate, Bulbous nose, Wide mouth	OMIM:273390
Au-Kline Syndrome	Retrognathia, Bifid nasal tip, Lipomyelomeningocele, Bifid uvula, Overlapping toe, Craniosynostos...	OMIM:616580
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer	OMIM:137215
Robinow Syndrome	Kyphoscoliosis, Mesomelic arm shortening, Acromesomelia, Broad alveolar ridges, Dental crowding, ...	ORPHA:97360
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Lacrimoauriculodentodigital Syndrome	Anosmia, Microdontia, Bifid uvula, Absent thumb, Syndactyly, Clinodactyly, Hypoplasia of the radi...	ORPHA:2363
Global Developmental Delay With Speech And Behavioral Abnormalities	Macrocephaly, Anal atresia, Microcephaly, Micrognathia, Cryptorchidism, Supernumerary nipple, Thi...	OMIM:619243
7Q31 Microdeletion Syndrome	Torticollis, Clinodactyly of the 2nd finger, Scoliosis, Prominent fingertip pads, Prominent nose,...	ORPHA:251061
Cleft Lip-Retinopathy Syndrome	Non-midline cleft of the upper lip	ORPHA:1995
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Platyspondyly, High palate, Kyphosis, Coronal craniosyno...	OMIM:616294
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Abnormally ossified vertebrae, Bowing of the long bone...	ORPHA:3035
Teebi-Shaltout Syndrome	High, narrow palate, Oligodontia, Narrow mouth, Microcephaly, Prominent palatine ridges, Cleft pa...	OMIM:272950
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Thick lower lip vermilion, Everted lower lip vermilion, Abnormality of the dentition, Microcephal...	ORPHA:85321
Ververi-Brady Syndrome	Wide nose, High palate, Everted lower lip vermilion, Microcephaly, Wide mouth, Broad nasal tip, S...	OMIM:617982
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Hypoplasia of the corpus callosum, Short nose, Aganglionic megacolon, Anal stenosis, Dandy-Walker...	OMIM:614207
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Hypoplasia of the corpus callosum, Short nose, Secondary microcephaly, Diffuse cerebral atrophy, ...	ORPHA:289266
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Micrognathia, Radial deviation of finger, Clinodactyly	OMIM:188025
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Meningocele, Abnormal form of the vertebral bodie...	ORPHA:2789
Hennekam Syndrome	Supernumerary tooth, Retrognathia, Short philtrum, Delayed eruption of teeth, Finger syndactyly, ...	ORPHA:2136
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Anophthalmia Plus Syndrome	Tessier cleft, Bilateral cleft palate, Non-midline cleft of the upper lip, Vertebral segmentation...	ORPHA:1104
Kleefstra Syndrome 1	Talipes equinovarus, Anteverted nares, Mandibular prognathia, Everted lower lip vermilion, Protru...	OMIM:610253
Micro Syndrome	Short nose, Short philtrum, Cerebellar vermis hypoplasia, Anteverted nares, High palate, Microcep...	ORPHA:2510
Simpson-Golabi-Behmel Syndrome	Death in infancy, Broad thumb, Wide mouth, Umbilical hernia, Anteverted nares, Scoliosis, Postaxi...	ORPHA:373
Hamamy Syndrome	Everted lower lip vermilion, Low posterior hairline, Wide mouth, Syndactyly, Long philtrum, Crani...	OMIM:611174
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Retrognathia, Anteverted nares, Microcephaly, Hypoplasia of teeth, Cerebral cortical ...	OMIM:234050
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia, Osteomalacia, Renal hypophosphatemia	ORPHA:405
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hyposmia, Anosmia, Cleft upper lip, Cleft palate, Finger joint hypermobility	OMIM:244200
Achondrogenesis, Type Ia	Hypoplastic sacrum, Abnormal foot bone ossification, Abnormal hand bone ossification, Short ribs,...	OMIM:200600
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Mandibular prognathia, Unilateral cleft palate, Wide mouth, Unilateral...	OMIM:619103
Pontocerebellar Hypoplasia, Type 10	Hypoplasia of the corpus callosum, Short nose, Widely spaced teeth, Low hanging columella, Progre...	OMIM:615803
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microdontia, Microcephaly, Split foot, Abnormal nasopharynx morphology, Decreased response to gro...	OMIM:129900
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Pontocerebellar Hypoplasia, Type 2E	Cerebral atrophy, Short nose, Hypoplasia of the corpus callosum, Secondary microcephaly, Wide nos...	OMIM:615851
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Death in childhood, Anteverted nares, Short ribs, Metaphyseal widening, Limb undergro...	OMIM:618961
Galloway-Mowat Syndrome 6	Anteverted nares, High palate, Microdontia, Microcephaly, Downturned corners of mouth, Wide mouth	OMIM:618347
Cerebrooculofacioskeletal Syndrome 2	Rocker bottom foot, Death in childhood, Microcephaly, Camptodactyly of finger, Micrognathia, Prom...	OMIM:610756
Desmosterolosis	Short nose, Macrocephaly, Gingival fibromatosis, Anteverted nares, Relative macrocephaly, Microce...	OMIM:602398
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Microcephaly, Cleft palate, Short distal phalanx of finger, Underdeveloped nasal...	OMIM:601355
Dentici-Novelli Neurodevelopmental Syndrome	Thin corpus callosum, Widely spaced teeth, Microcephaly, Wide mouth, Simplified gyral pattern, Pr...	OMIM:619877
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, Anteverted nares, Gingival overgrowth, High palate, Narrow mouth, Choanal atresia,...	OMIM:123790
Radio-Renal Syndrome	Retrognathia, High, narrow palate, Hypoplasia of the radius, Micromelia, Short palm, Downturned c...	ORPHA:3015
Cousin Syndrome	Dislocated radial head, Wrist flexion contracture, Anterior rounding of vertebral bodies, Mesomel...	OMIM:260660
Sanjad-Sakati Syndrome	Thin vermilion border, Hypocalcemia, Abnormal dental enamel morphology, Abnormality of the dentit...	ORPHA:2323
Orofaciodigital Syndrome V	Aganglionic megacolon, Sandal gap, Scoliosis, High palate, Postaxial hand polydactyly, Ankyloglos...	OMIM:174300
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef...	OMIM:192445
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Mandibular prognathia, Scoliosis, Hypoplasia of the maxilla, Camptodactyly o...	ORPHA:1101
Odontomicronychial Dysplasia	Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit...	ORPHA:1811
Short Stature And Facioauriculothoracic Malformations	Cleft upper lip, Short neck, Cleft palate, High palate	OMIM:609654
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Finger syndactyly, Apl...	ORPHA:3320
Ohdo Syndrome, X-Linked	Thin vermilion border, Widely spaced teeth, High palate, Narrow mouth, Microdontia, Prominent nos...	OMIM:300895
Congenital Disorder Of Glycosylation, Type 2V	Periventricular leukomalacia, Retrognathia, Short philtrum, Low hanging columella, Talipes equino...	OMIM:619493
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebral atrophy, Long nose, Short nose, Hypoplasia of the corpus callosum, Cerebellar vermis hyp...	OMIM:618590
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Limited elbow extension, Short nose, Carpal bone hypoplasia, Platyspondyly, Scoliosis...	OMIM:616723
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Long philtrum, Thin vermilion border, Clinodactyly of the 2nd finger, Conical incisor...	ORPHA:73223
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hypocalcemic tetany, Hyperph...	ORPHA:36913
Chromosome 10Q26 Deletion Syndrome	Radial deviation of finger, Sandal gap, Prominent fingertip pads, Low posterior hairline, Long ph...	OMIM:609625
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Short philtrum, Anteverted nares, 2-3 toe syndactyly, Scoliosis, High palate, Evert...	OMIM:616449
Nephrotic Syndrome, Type 11	High palate, Arachnodactyly, Micrognathia, Cleft palate, Partial duplication of thumb phalanx, Sm...	OMIM:616730
Lelis Syndrome	Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue	ORPHA:140936
Microcephaly 13, Primary, Autosomal Recessive	Metaphyseal sclerosis, Short foot, Microcephaly, Micrognathia, Simplified gyral pattern, Prominen...	OMIM:616051
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Abnormality of canine, Mandibular prognathia, Relative macrocephaly, Narrow mouth, High palate, T...	ORPHA:261584
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Short nose, Delayed eruption of teeth, Oligodontia, Abnormality of t...	ORPHA:2315
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
16P12.1P12.3 Triplication Syndrome	Short nose, High, narrow palate, Thin vermilion border, Retrognathia, Wide mouth, Malar flattenin...	ORPHA:485405
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Hypoplasia of the corpus callosum, Abnormal cortical gyration, Narrow mouth, Malar flattening, Mi...	OMIM:177980
Microcephaly 26, Primary, Autosomal Dominant	Hypoplasia of the corpus callosum, Short nose, Dysplastic corpus callosum, Gingival overgrowth, P...	OMIM:619179
Gomez-Lopez-Hernandez Syndrome	Short nose, Thin vermilion border, Cerebellar vermis hypoplasia, Anteverted nares, High palate, A...	OMIM:601853
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Retrognathia, Broad distal phalanx of finger, Microdontia, Kyphosis, Wide mouth, Thin lower lip v...	OMIM:619194
Metaphyseal Anadysplasia 2	Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg...	OMIM:613073
Acrocephalopolydactyly	Short nose, Brachydactyly, Limb undergrowth, Depressed nasal ridge	ORPHA:221054
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal palate morphology, Tarsal synostosis, Abnormal dental enamel morphology, Ectopic anus, W...	ORPHA:85199
Congenital Disorder Of Deglycosylation 2	Short columella, Thin corpus callosum, Macrocephaly, Sandal gap, Cerebellar vermis hypoplasia, Po...	OMIM:619775
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Everted lower lip vermilion, Kyphosis, Contracture of the proximal interphalangeal ...	ORPHA:464738
Chromosome 14Q11-Q22 Deletion Syndrome	Hypoplasia of the corpus callosum, Short nose, Thin corpus callosum, High palate, Narrow mouth, M...	OMIM:613457
Desbuquois Dysplasia 1	Short nose, Narrow mouth, Malar flattening, Smooth philtrum, Microretrognathia, Long philtrum, Co...	OMIM:251450
Campomelic Dysplasia	Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Talipes...	ORPHA:140
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dislocated radial head, Microdontia,...	OMIM:245600
Galloway-Mowat Syndrome 7	Kyphoscoliosis, Cubitus valgus, Hallux valgus, High palate, Arachnodactyly, Micrognathia, Cleft p...	OMIM:618348
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Short ribs, Short metacarpal, Long philtrum, Long...	OMIM:271665
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Wide nasal bridge, Depressed nasal bridge	OMIM:167730
Fibrochondrogenesis 2	Short nose, Micrognathia, Anteverted nares, Malar flattening	OMIM:614524
Icf Syndrome	Macrocephaly, Protruding tongue, Micrognathia, Macroglossia, Depressed nasal bridge	ORPHA:2268
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Secondary microcephaly, Widely spaced teeth, Mandibular prognathia, Cessation of head growth, Pro...	ORPHA:98795
Dystonia-Deafness Syndrome 1	Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate, Hypoplastic scapulae	OMIM:607371
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Prominent fingertip pads, High palate, Everted lower lip vermilion, Scolio...	OMIM:617804
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Encephalocele, Meningocele, Talipes equinovarus, Bifid nasal tip, Thick nasa...	ORPHA:1827
17Q23.1Q23.2 Microdeletion Syndrome	Widely spaced teeth, Narrow mouth, Microcephaly, Bifid nose, Malar flattening, Bulbous nose, Depr...	ORPHA:261279
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cerebral atrophy, Short nose, Hypoplasia of the corpus callosum, Narrow mouth, Cleft palate, Mala...	OMIM:601353
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Narrow nasal ridge, Joint stiffness, Short distal phalanx of finger, Coxa valga,...	OMIM:248370
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Periventricular white matter hyperintensities, Dental crowding, Mandibular prognathia, Narrow mou...	OMIM:300998
Branchiogenic Deafness Syndrome	Osteolytic defects of the distal phalanges of the hand, Cleft palate, Short distal phalanx of fin...	ORPHA:50815
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Dandy-Walker malformation, Polymicrogyria, Microcephaly, Micrognathia, Cleft pal...	OMIM:225790
Ellis Van Creveld Syndrome	Thin vermilion border, Genu valgum, Cubitus valgus, Delayed eruption of teeth, Conical incisor, S...	ORPHA:289
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short uvula, Short lingual frenulum, Short ribs, High palate, Bowing of the long bon...	OMIM:614091
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Low posterior hairline, Kyphosis, Malrotation of small bow...	OMIM:194190
Johnson Neuroectodermal Syndrome	Anosmia, Everted lower lip vermilion, Choanal atresia, Microcephaly, Carious teeth, Hand polydact...	ORPHA:2316
Carey-Fineman-Ziter Syndrome 1	Retrognathia, Talipes equinovarus, Anteverted nares, Scoliosis, Glossoptosis, High palate, Microg...	OMIM:254940
Kaufman Oculocerebrofacial Syndrome	Hypoplasia of the corpus callosum, Short nose, Anteverted nares, High palate, Narrow mouth, Micro...	OMIM:244450
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Abnormal dental morphology, Short neck, Microg...	ORPHA:2522
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Short nose, Lissencephaly, Dandy-Walker malformation, Progressive microcephaly, Polymicrogyria, H...	ORPHA:357074
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypoplasia of the corpus callosum, Thick lower lip vermilion, Polymicrogyria, Cortical dysplasia,...	OMIM:300354
Auriculocondylar Syndrome 2B	Hypoplasia of the corpus callosum, Mandibular condyle hypoplasia, Micrognathia, Narrow mouth	OMIM:620458
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Cardiofaciocutaneous Syndrome 1	Low posterior hairline, Anteverted nares, Scoliosis, Abnormality of the dentition, Submucous clef...	OMIM:115150
Hartnup Disorder	Glossitis	OMIM:234500
Ayme-Gripp Syndrome	Cerebral atrophy, Short nose, Mandibular prognathia, Narrow mouth, Abnormality of the dentition, ...	OMIM:601088
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Wide nasal base, Broad alveolar ridges, Abnor...	ORPHA:79500
12Q14 Microdeletion Syndrome	Abnormal nostril morphology, Thin vermilion border, Clinodactyly of the 5th finger, Osteopoikilos...	ORPHA:94063
Infantile Systemic Hyalinosis	Osteopenia, Steatorrhea, Gingival overgrowth, Osteoporosis, Micromelia, Joint stiffness, Camptoda...	ORPHA:2176
Holoprosencephaly 13, X-Linked	Butterfly vertebrae, Solitary median maxillary central incisor, Median cleft palate, Vertebral cl...	OMIM:301043
Dubowitz Syndrome	Sandal gap, Broad thumb, Wide mouth, Abnormality of thumb phalanx, Joint hypermobility, Craniosyn...	ORPHA:235
Orofaciodigital Syndrome Type 3	Cerebellar vermis hypoplasia, Dandy-Walker malformation, Postaxial hand polydactyly, Abnormality ...	ORPHA:2752
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Retrognathia, Anteverted nares, Prominent nasal tip, Everted lower lip vermilion, Micrognathia, A...	OMIM:617101
Ring Chromosome 10 Syndrome	Long philtrum, Thin vermilion border, Micrognathia, Hypocalcemia	ORPHA:1438
Restrictive Dermopathy 2	Rectal prolapse, Short clavicles, Hypoplastic facial bones, Microretrognathia, Convex nasal ridge	OMIM:619793
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Overlapping toe, Advanced eruption of teeth, Short philtrum, Encephalocele, Choanal ...	OMIM:619148
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Convex nasal ridge, Micrognathia, Narrow mouth	ORPHA:1979
Stromme Syndrome	Stillbirth, Short columella, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, ...	OMIM:243605
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Cleft soft palate, Anteverted nares, Micrognathia, Submucous cleft soft palate, Short...	ORPHA:2282
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Long nose, 11 pairs of ribs, Dental crowding, Oligodontia, Microcephaly, Enamel hypoplasia, Short...	OMIM:619184
Osteogenesis Imperfecta, Type Xx	Narrow palate, Retrognathia, Kyphoscoliosis, Vertebral compression fracture, Mandibular prognathi...	OMIM:618644
Dyskeratosis Congenita	Neoplasm of the pancreas, Periodontitis, Cerebral calcification, Abnormality of the dentition, Tr...	ORPHA:1775
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bilateral choanal atresia, Low hanging columella, Underdeveloped nasal alae, Choanal atresia, Ank...	OMIM:620186
Warburg Micro Syndrome 3	Secondary microcephaly, Short nose, Hypoplasia of the corpus callosum, Narrow palate, Polymicrogy...	OMIM:614222
3M Syndrome	Hypoplasia of the ulna, Long philtrum, Rocker bottom foot, Abnormal metaphysis morphology, Clinod...	ORPHA:2616
Arthrogryposis, Distal, Type 2B2	Narrow mouth	OMIM:618435
Frank-Ter Haar Syndrome	Kyphoscoliosis, Redundant neck skin, Broad alveolar ridges, Kyphosis, Wide mouth, Anteverted nare...	OMIM:249420
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Tibial bowing, Micrognathia, Limb undergrowth, Prominent nose	ORPHA:453510
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Bifid uvula, High palate, Median cleft upper lip	OMIM:155145
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Tooth agenesis, Mes...	ORPHA:818
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening, Coxa valga, Hip dislocation	OMIM:109120
Chromosome 15Q14 Deletion Syndrome	Short philtrum, Recurrent viral upper respiratory tract infections, Everted lower lip vermilion, ...	OMIM:616898
Meier-Gorlin Syndrome 2	Narrow mouth, Microcephaly, Micrognathia, Smooth philtrum, Underdeveloped nasal alae	OMIM:613800
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hypoplasia of the corpus callosum, Short nose, Cavum septum pellucidum, Cerebellar vermis hypopla...	OMIM:619383
Diprosopus	Abnormality of the nose, Non-midline cleft of the upper lip, Cleft palate, Anencephaly	ORPHA:1681
Nicolaides-Baraitser Syndrome	Thin vermilion border, High, narrow palate, Narrow nasal bridge, Anteverted nares, Thick nasal al...	ORPHA:3051
Autosomal Recessive Centronuclear Myopathy	Narrow mouth, Retrognathia, Bifid uvula, High palate	ORPHA:169186
Adenylosuccinase Deficiency	Cerebral atrophy, Short nose, Anteverted nares, Microcephaly, Wide mouth, Smooth philtrum, Long p...	OMIM:103050
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short philtrum, Abnormality of the dentition, Biparietal narrowing, Microcephaly, Cleft palate, P...	ORPHA:261190
Hypohidrotic Ectodermal Dysplasia	Anteverted nares, Abnormality of the dentition, Tooth agenesis, Sinusitis, Hypoplasia of the maxi...	ORPHA:238468
Myhre Syndrome	Radial deviation of finger, Joint stiffness, Overlapping toe, Clinodactyly, Short finger, Short p...	OMIM:139210
Developmental Malformations-Deafness-Dystonia Syndrome	Orofacial cleft, Death in early adulthood, Femoral retroversion, Hypoplastic scapulae, Micromelia...	ORPHA:79107
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Microcephaly, Short nose, Depressed nasal bridge	OMIM:616910
Deafness-Craniofacial Syndrome	Abnormal palate morphology, Short philtrum, Short lingual frenulum, Abnormality of the dentition,...	ORPHA:3241
Tetraamelia-Multiple Malformations Syndrome	Orofacial cleft, Narrow mouth, Anal atresia, Septo-optic dysplasia, Micrognathia, Agenesis of cor...	ORPHA:3301
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Redundant neck skin, Proximal placement of thumb, Tracheomalacia, Anteverted nares, W...	OMIM:217980
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Prominent ...	OMIM:180849
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Bowing of the legs, Distal femoral metaphyseal irregularity, Fla...	ORPHA:174
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Macrocephaly, Megalencephaly, Thick lower lip vermilion, Thick upper lip vermilion, Wide mouth, O...	OMIM:611087
Ritscher-Schinzel Syndrome 2	Broad neck, Clinodactyly of the 5th finger, Short philtrum, Wide anterior fontanel, Scoliosis, Pr...	OMIM:300963
Miller-Dieker Lissencephaly Syndrome	Hypoplasia of the corpus callosum, Short nose, Cavum septum pellucidum, Delayed eruption of teeth...	OMIM:247200
Lipoid Proteinosis	Thick lower lip vermilion, Cerebral calcification, High palate, Nasal polyposis, Abnormality of t...	ORPHA:530
3Mc Syndrome 1	Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Spina bifida occulta, Single interph...	OMIM:257920
Lenz-Majewski Hyperostotic Dwarfism	Syndactyly, Joint hypermobility, Elbow flexion contracture, Hemivertebrae, Abnormality of the den...	OMIM:151050
Phocomelia, Schinzel Type	Hypoplasia of the radius, High, narrow palate, Fibular aplasia, Aplasia/Hypoplasia of the sacrum,...	ORPHA:2879
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Nemaline Myopathy 2	Long philtrum, Narrow mouth, Cleft palate, High palate	OMIM:256030
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Short nose, Microcephaly, Micrognathia, Prominent nasal bridge, Underdeveloped nasal alae	ORPHA:2083
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Abnormality of...	ORPHA:166002
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Thick lower lip vermilion, Anteverted nares, Underdeveloped nasal alae, Narrow mouth, Thick upper...	OMIM:608624
Restrictive Dermopathy 1	Rocker bottom foot, Kyphoscoliosis, Narrow nasal ridge, Temporomandibular joint ankylosis, Choana...	OMIM:275210
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate, Aplasi...	ORPHA:2476
Macs Syndrome	Long philtrum, Recurrent aphthous stomatitis, Gingival overgrowth, Scoliosis, High palate, Osteop...	OMIM:613075
16P13.11 Microdeletion Syndrome	Short nose, Anteverted nares, Exaggerated cupid's bow, Microcephaly, Cleft upper lip, Cleft palat...	ORPHA:261236
Koolen-De Vries Syndrome	Narrow palate, Widely spaced teeth, Pear-shaped nose, Scoliosis, Prominent fingertip pads, High p...	OMIM:610443
Bainbridge-Ropers Syndrome	Retrognathia, Inferior cerebellar vermis hypoplasia, Dental crowding, Everted lower lip vermilion...	OMIM:615485
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short nose, Periventricular leukomalacia, Thin corpus callosum, Exaggerated cupid's bow, High pal...	OMIM:619833
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Anemia, Increased serum bile acid concentration, Macrocytic a...	ORPHA:811
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Anosmia, Osteoporosis, Cleft palate, Bifid nose, Cleft lip, Clinodactyly	OMIM:614838
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Long phil...	ORPHA:363611
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Fibular hypoplasia, Preaxial polydactyly, Wide anterior fontanel, Short tibia, Short ribs, Anal a...	OMIM:617925
Baller-Gerold Syndrome	Short nose, Narrow nasal bridge, Narrow mouth, High palate, Anal atresia, Micrognathia, Cleft pal...	ORPHA:1225
Short Stature-Micrognathia Syndrome	Retrognathia, Rhizomelia, 2-3 toe syndactyly, High palate, Microcephaly, Broad femoral neck, Micr...	OMIM:617164
Burning Mouth Syndrome	Smooth tongue, Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Abnorm...	ORPHA:353253
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Microdontia, Split foot, Abnormal nasopharynx morphology, Decreased response ...	OMIM:604292
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Hypoplasia of the corpus callosum, Stillbirth, Patellar hypoplasia, Talipes equinovarus, Absent t...	OMIM:119800
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Rocker bottom foot, Everted upper lip vermilion, Short philtrum, Sandal gap, Bicoronal synostosis...	OMIM:619951
Nijmegen Breakage Syndrome	Long nose, Anal stenosis, Sandal gap, 2-3 toe syndactyly, Choanal atresia, Anal atresia, Sinusiti...	OMIM:251260
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Perianal abscess, Upturned corners of mouth, Wide mouth, Long philtrum, Wide nasal bridge, Thin u...	OMIM:614684
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ...	OMIM:617604
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Microcephaly, Thin vermilion border, Narrow mouth	OMIM:612447
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Pterygium Colli, Isolated	Short nose	OMIM:177990
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormality of the philtru...	ORPHA:2759
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hyperlordosis, Metaphyseal irregularity, Long philtrum, Joint hypermobility, Hip dislocation, Sco...	OMIM:616007
2Q23.1 Microduplication Syndrome	Dental crowding, Prominent nasal tip, Abnormality of the dentition, Wide mouth, Prominent nose, B...	ORPHA:313947
Angelman Syndrome Due To A Point Mutation	Secondary microcephaly, Widely spaced teeth, Mandibular prognathia, Cessation of head growth, Pro...	ORPHA:411511
Chromosome 15Q11.2 Deletion Syndrome	Short finger, Irregular dentition, Slender finger, Arachnodactyly, Micrognathia, Joint contractur...	OMIM:615656
Congenital Varicella Syndrome	Microcephaly, Cerebral cortical atrophy, Micromelia	ORPHA:291
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Anteverted nares, Mandibular prognathia, Malar flattening, Depressed nasal bridge	OMIM:614613
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Suleiman-El-Hattab Syndrome	Thick lower lip vermilion, High palate, Microcephaly, Downturned corners of mouth, Wide mouth, Sm...	OMIM:618950
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Wrist flexion contracture, Short humerus, Absent thumb, Syndactyly, A...	OMIM:268300
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Delayed eruption of teeth, Abnormal form of the vertebral bodies,...	ORPHA:2050
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Kyphoscoliosis, Hyperlordosis, Short metacarpal, Prominent calcaneus, Cranios...	ORPHA:457395
Cleft Palate, Deafness, And Oligodontia	Sandal gap, Cleft soft palate, Short hallux, Agenesis of permanent teeth, Oligodontia of primary ...	OMIM:216300
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, High palate, Protruding tongue, Microcephaly, Wide mouth, Thick vermilion border...	OMIM:618106
2P15P16.1 Microdeletion Syndrome	Retrognathia, Optic nerve hypoplasia, Prominent nasal tip, High palate, Everted lower lip vermili...	ORPHA:261349
Macrocephaly-Intellectual Disability-Autism Syndrome	Lymphoid nodular hyperplasia, Short nose, Macrocephaly, Intestinal polyposis, Depressed nasal bridge	ORPHA:210548
Trisomy 20P	Reduced bone mineral density, Abnormal form of the vertebral bodies, Everted lower lip vermilion,...	ORPHA:261318
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Abnormal cortical gyration, Macrocephaly, Thick lower lip vermilion, Mesiodens, Wide nose, Anteve...	ORPHA:314647
Lethal Congenital Contracture Syndrome 10	Narrow palate, Adducted thumb, Stiff neck, Torticollis, Femoral bowing, High palate, Short neck, ...	OMIM:617022
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Narrow mouth	OMIM:132450
Vici Syndrome	Everted upper lip vermilion, Wide nose, High palate, Median cleft palate, Cleft upper lip, Microg...	OMIM:242840
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Trichodermodysplasia-Dental Alterations Syndrome	Supernumerary tooth, Delayed eruption of teeth, Scoliosis, Hyperlordosis, Tooth agenesis, Abnorma...	ORPHA:3353
Fibrochondrogenesis 1	Stillbirth, Short nose, Anteverted nares, Narrow mouth, Cleft palate, Malar flattening, Long phil...	OMIM:228520
Bamforth-Lazarus Syndrome	Cleft palate, Bilateral choanal atresia	OMIM:241850
Abetalipoproteinemia	Retinopathy, Retinal degeneration, Acanthocytosis, Abetalipoproteinemia	OMIM:200100
Oculocerebral Hypopigmentation Syndrome, Cross Type	Short nose, Abnormal palate morphology, Dandy-Walker malformation, Anteverted nares, Narrow mouth...	ORPHA:2719
Mosaic Variegated Aneuploidy Syndrome 2	Short nose, Narrow mouth, Microcephaly, Micrognathia, Bulbous nose, Depressed nasal bridge, Duode...	OMIM:614114
Multiple Myeloma	Osteopenia, Hypercalcemia, Hyperproteinemia, Pathologic fracture, Elevated circulating creatinine...	ORPHA:29073
Meckel Syndrome, Type 1	Occipital encephalocele, Radial deviation of finger, Anencephaly, Intestinal malrotation, Wide mo...	OMIM:249000
Distal Duplication 17Q	Genu valgum, Rhizomelia, Short philtrum, Scoliosis, High palate, Low posterior hairline, Arachnod...	ORPHA:3379
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Macrocephaly, Anteverted nares, Downturned corners of mouth, Thick vermilion border, ...	ORPHA:1185
Nail-Patella Syndrome	Limited elbow extension, Clinodactyly of the 5th finger, Patellar hypoplasia, Disproportionate pr...	OMIM:161200
Achondrogenesis, Type Ib	Stillbirth, Short ribs, Malar flattening, Micromelia	OMIM:600972
Ring Chromosome 7 Syndrome	Short nose, Thin vermilion border, Short philtrum, Anteverted nares, Mandibular prognathia, Narro...	ORPHA:1449
Multiple Pterygium-Malignant Hyperthermia Syndrome	Advanced eruption of teeth, Broad alveolar ridges, Exaggerated cupid's bow, Narrow mouth, Downtur...	ORPHA:2215
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft upper lip, Cleft palate	OMIM:179400
X-Linked Intellectual Disability, Wilson Type	Microcephaly, Mandibular prognathia, Wide mouth, Thick vermilion border	ORPHA:85290
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612562
Mesomelia-Synostoses Syndrome	Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral bowing, Parti...	OMIM:600383
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Aganglionic megacolon, Anal stenosis, Anal atresia, Microcephaly, Cleft palate, Broad...	OMIM:614749
Zttk Syndrome	Kyphosis, Bifid uvula, Joint hypermobility, Craniosynostosis, Short philtrum, Scoliosis, Hemivert...	OMIM:617140
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Microcephaly, Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Lateral Meningocele Syndrome	Long philtrum, Meningocele, Dental crowding, Scoliosis, Wormian bones, High palate, Kyphosis, Umb...	OMIM:130720
Congenital Myopathy 17	Overlapping fingers, Mandibular prognathia, High palate, Tapered finger, Overlapping toe, Hand cl...	OMIM:618975
Fraser Syndrome	Dental crowding, Myelomeningocele, Death in infancy, Umbilical hernia, Cleft ala nasi, Encephaloc...	ORPHA:2052
Radio-Tartaglia Syndrome	Retrognathia, High, narrow palate, Short philtrum, Dental crowding, Anteverted nares, Prominent n...	OMIM:619312
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Cerebral atrophy, Thick lower lip vermilion, Clinodactyly of the 5th finger, Triphalangeal thumb,...	OMIM:220500
Holzgreve Syndrome	Abnormal metacarpal morphology, Webbed neck, Abnormally ossified vertebrae, Joint stiffness, Hand...	ORPHA:2167
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Retrognathia, Optic nerve hypoplasia, Abnormal periventricular white matter morphology, Microceph...	ORPHA:468631
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Subglottic stenosis, Broad jaw, Exaggerated cupid's bow, High palate, Tapered finger, Broad thumb...	OMIM:614501
X-Linked Intellectual Disability, Pai Type	Prominent nasal bridge, Narrow mouth	ORPHA:85322
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Radial deviation of finger, Kyphosis, Umbilical hernia, Clinodactyly, Coxa valga,...	OMIM:301040
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone...	OMIM:241530
Melnick-Needles Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Short humerus,...	OMIM:309350
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Short nose, Macrocephaly, Short philtrum, Anteverted nares, Exaggerated cupid's bow, Prominent no...	OMIM:618316
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cleft palate, Radial club hand, Median cleft upper lip, Abnormal morphology of the radius	ORPHA:2165
Dominant Beta-Thalassemia	Hyperplasia of the maxilla, Genu valgum, Abnormality of the dentition, Osteoporosis, Bowing of th...	ORPHA:231226
Fraser Syndrome 1	Dental crowding, Myelomeningocele, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the p...	OMIM:219000
Monosomy 13Q34	Micrognathia, Hypercalcemia	ORPHA:96168
Cerebrofaciothoracic Dysplasia	Short nose, Wide nose, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Low posterior hai...	ORPHA:1394
Cutis Laxa, Autosomal Recessive, Type Iic	Kyphoscoliosis, Dental crowding, Long philtrum, Joint hypermobility, Overlapping toe, Anteverted ...	OMIM:617402
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Cleft palate	OMIM:243440
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Umbilical herni...	OMIM:265000
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Short nose, Macrocephaly, Downturned corners of mouth, Tented upper lip vermilion, Open mouth, Bu...	OMIM:618430
Trochlea Of The Humerus, Aplasia Of	Cleft palate, Short humerus	OMIM:191000
Neu-Laxova Syndrome 2	Rocker bottom foot, Finger syndactyly, High palate, Depressed nasal ridge, Microcephaly, Microgna...	OMIM:616038
Refractory Celiac Disease	Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia	ORPHA:398063
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Vertebral compression fracture, Femoral retroversion, Wide anterior fonta...	OMIM:610682
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration	OMIM:193230
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone...	OMIM:300554
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Retrognathia, Deviated nasal septum, Tooth malposition, Mandibular prognathia, Microcephaly, Cere...	OMIM:619576
Vitamin K Antagonist Embryofetopathy	Short nose, Anteverted nares, Choanal atresia, Macroglossia, Depressed nasal bridge	ORPHA:1914
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hypercalcemia, Recurrent fractures, Calcinosis	OMIM:239200
Intellectual Disability-Strabismus Syndrome	Hypoplasia of the corpus callosum, Short nose, Narrow nasal ridge, High palate, Abnormality of th...	ORPHA:363528
Combined Oxidative Phosphorylation Deficiency 25	Cerebral atrophy, Short nose, Anteverted nares, Hypoplasia of the pons, Smooth philtrum, Long phi...	OMIM:616430
Singleton-Merten Syndrome 1	Eruption failure, Short dental root, Expanded phalanges with widened medullary cavities, Coxa val...	OMIM:182250
Mullegama-Klein-Martinez Syndrome	Polydactyly, Clinodactyly of the 5th finger, Short philtrum, Scoliosis, Prominent nose, Submucous...	OMIM:301022
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Intestinal malrotation, Biconcave vertebral bodies, Crowd...	OMIM:102500
Frontometaphyseal Dysplasia	Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Wrist flexion contra...	ORPHA:1826
Spondyloepimetaphyseal Dysplasia, Shohat Type	Thin vermilion border, Platyspondyly, Vertebral compression fracture, Delayed epiphyseal ossifica...	OMIM:602557
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Microcephaly, Short nose, Mandibular prognathia, Cerebellar hypoplasia	OMIM:618087
Harel-Yoon Syndrome	Short nose, Mandibular prognathia, Micrognathia	OMIM:617183
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Hypoplasia of the corpus callosum, Everted upper lip vermilion, Short philtrum, Optic nerve hypop...	OMIM:618381
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Broad neck, Low posterior hairline, Micrognathia, Bifid uvula, Cleft palate	OMIM:606164
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin corpus callosum, Widely spaced teeth, Short philtrum, Wide nose, Narrow nasal ridge, Antever...	OMIM:619293
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Narrow mouth, Abnormality of the dentition, Micrognathia, Convex nasal ridge	ORPHA:90154
Atelosteogenesis Type Iii	Short tubular bones of the hand, Abnormal cervical curvature, Absent radius, Patellar dislocation...	ORPHA:56305
Prolidase Deficiency	Short nose, High palate, Micrognathia, Depressed nasal bridge, Concave nasal ridge	OMIM:170100
Witteveen-Kolk Syndrome	Radial deviation of finger, Proximal placement of thumb, Arachnodactyly, Long philtrum, Joint hyp...	OMIM:613406
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, High, narrow palate, Redundant neck skin, Death in childhood, Cubitus valgus,...	OMIM:214100
Intellectual Developmental Disorder, Autosomal Dominant 47	Cerebral atrophy, Microcephaly, Widely-spaced incisors, Prominent nasal bridge, Wide mouth	OMIM:617635
Neuhauser Syndrome	Osteopenia, Genu valgum, Genu recurvatum, High palate, Arachnodactyly, Micrognathia, Bifid uvula,...	OMIM:249310
Acrocardiofacial Syndrome	Abnormal metacarpal morphology, Joint dislocation, Finger syndactyly, Split hand, Anal atresia, D...	ORPHA:2008
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
White-Sutton Syndrome	Hypoplasia of the corpus callosum, Short philtrum, Subcortical cerebral atrophy, High palate, Nar...	ORPHA:468678
Alazami Syndrome	Widely spaced teeth, Short philtrum, Wide nose, Wide mouth, Thick vermilion border, Malar flatten...	ORPHA:319671
Focal Dermal Hypoplasia	Midclavicular aplasia, Short ribs, Short metacarpal, Myelomeningocele, Intestinal malrotation, Sp...	OMIM:305600
Hypertrichosis Cubiti	Microcephaly, Prominent nasal bridge, Rhizomelia, Micromelia	ORPHA:2220
Gapo Syndrome	Abnormal metaphysis morphology, Long philtrum, Abnormal palate morphology, Delayed eruption of te...	ORPHA:2067
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Hypoplasia of the corpus callosum, Short nose, Absent cupid's bow, Choanal atresia, Celiac diseas...	ORPHA:284169
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia	ORPHA:261250
Microlissencephaly-Micromelia Syndrome	Secondary microcephaly, Short nose, Adducted thumb, Hypoparathyroidism, 11 pairs of ribs, Microme...	ORPHA:50810
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop...	OMIM:127550
Hajdu-Cheney Syndrome	Partial absence of toe, Decreased skull ossification, Kyphosis, Intestinal malrotation, Biconcave...	ORPHA:955
Chromosome 18P Deletion Syndrome	Redundant neck skin, Radial deviation of finger, Clinodactyly of the 5th finger, Tooth malpositio...	OMIM:146390
Congenital Disorder Of Glycosylation, Type Il	Cerebral atrophy, Short nose, Global brain atrophy, Microcephaly, Wide mouth, Long philtrum, Depr...	OMIM:608776
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Dislocated radial head, Arachnodactyly, Bifid uvula, Joint hypermobility, Craniosynostosis, Long ...	OMIM:130070
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Absent trapezium, Cone-shaped epiphyses of the middle phalanges of the hand, Absent scaphoid, Dis...	OMIM:606895
Monosomy 9P	Short nose, Anteverted nares, High palate, Abnormality of the dentition, Narrow mouth, Choanal at...	ORPHA:261112
Oculocerebrorenal Syndrome Of Lowe	Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Death in infancy, Long p...	ORPHA:534
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Microcephaly, Micrognathia, Wide mouth, Esophagitis	ORPHA:79350
20Q11.2 Microduplication Syndrome	Tented philtrum, Short nose, Retrognathia, Abnormal nasal bridge morphology, Anteverted nares, Gi...	ORPHA:363659
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypoplasia of the corpus callosum, Macrocephaly, Low hanging columella, Polymicrogyria, Short 5th...	ORPHA:500159
Acropectorovertebral Dysplasia	High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car...	ORPHA:957
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Macrocephaly, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplasia of the ca...	OMIM:300863
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Rocker bottom foot, Kyphoscoliosis, Clinodactyly of the 5th finger, Congenital bilateral hip disl...	ORPHA:488642
Late-Onset Isolated Acth Deficiency	Hypercalcemia, Hyponatremia, Generalized bone demineralization, Hyperuricemia	ORPHA:199299
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Retrognathia, Long nose, Low hanging columella, Thin lower lip vermilion, Abnormality of the dent...	ORPHA:363444
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Proximal placement of thumb, Microdontia, Long philtrum, Short 5th finger...	OMIM:610759
Dentinogenesis Imperfecta 1	Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta	OMIM:125490
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Cog1-Cdg	Osteopenia, Kyphoscoliosis, Butterfly vertebrae, Broad neck, Rhizomelia, Talipes equinovarus, Ver...	ORPHA:263508
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Sandal gap, Kyphosis, Arachnodactyly, Equinus calcaneus, Abnormal toe morphology,...	ORPHA:536532
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short nose, Death in childhood, Wide distal femoral metaphysis, Wide nose, Metaphyseal cupping, A...	OMIM:613320
Severe Oculo-Renal-Cerebellar Syndrome	Sandal gap, Mandibular prognathia, Aplasia/Hypoplasia of the cerebellum, Wide mouth, Hypoplasia o...	ORPHA:2715
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Cleft...	OMIM:611561
Distal 16P11.2 Microdeletion Syndrome	Prominent nasal bridge, Aganglionic megacolon, Narrow mouth	ORPHA:261222
Focal Facial Dermal Dysplasia Type Iv	Cleft upper lip, Cleft palate	ORPHA:398189
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Wormian bones, Femoral bowing, Biconcave flattened vertebrae, Dentinoge...	OMIM:166200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Microdontia, Microcephaly, Triangular mouth, Anteverted nares, Malar flattening, Cerebellar hypop...	OMIM:300868
Familial Visceral Myopathy	Aganglionic megacolon, Anteverted nares, Microcephaly, Arachnodactyly, Micrognathia, Cleft palate...	ORPHA:2604
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Aplasia of the epiglottis, Short clavicles, Short ribs, Postaxial hand polyd...	OMIM:617088
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Subcutaneous ossification, Osteoporosis, Enamel hypoplasia, Hypocalcem...	OMIM:103580
Pancreatic Agenesis-Holoprosencephaly Syndrome	Solitary median maxillary central incisor, High palate, Pancreatic aplasia, Abnormal external nos...	ORPHA:556955
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Death in infancy, Microcephaly, Micrognathia, Pachygyria, Agenesis of corp...	ORPHA:452
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Micrognathia	ORPHA:1129
Mosaic Variegated Aneuploidy Syndrome 1	Short nose, Triangular mouth, Wide nose, Dandy-Walker malformation, Anteverted nares, Cerebral hy...	OMIM:257300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Relative macrocephaly, Short ribs, Micromelia, Postaxial polydactyly, S...	OMIM:617895
Myoclonic-Astatic Epilepsy	Thick lower lip vermilion, Anteverted nares, Thick nasal alae, Microcephaly, Wide mouth, Broad ph...	ORPHA:1942
Autosomal Recessive Spastic Paraplegia Type 77	Kyphoscoliosis, Retrognathia, Macrodontia of permanent maxillary central incisor	ORPHA:466722
9Q21.13 Microdeletion Syndrome	Polydactyly, Abnormal tongue morphology, Scoliosis, Vertebral segmentation defect, Downturned cor...	ORPHA:531151
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Short nose, Anteverted nares, High palate, Micrognathia, Tented upper lip vermilion, Deep philtru...	ORPHA:314655
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, Macrocephaly, High palate, Choanal atresia, Cleft palate, Prominent nasal bridge, A...	ORPHA:52055
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Mandibular prognathia, Wide mouth, Cessation of head growth	ORPHA:411515
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Retrognathia, Distal shortening of limbs, Wide nasal base, Webbed neck, Spina bifida ...	ORPHA:488434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Anal atresia, Congenital contracture, Cleft upper ...	OMIM:236670
1P21.3 Microdeletion Syndrome	Short nose, Macrocephaly, Micrognathia, Broad nasal tip, Wide mouth	ORPHA:293948
Branchiooculofacial Syndrome	Proximal placement of thumb, Hyperlordosis, Low posterior hairline, Kyphosis, Malrotation of colo...	OMIM:113620
Tbck-Related Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Broad finger, Decreased response to growth hormone stimulation...	ORPHA:488632
Severe X-Linked Intellectual Disability, Gustavson Type	Short nose, Dandy-Walker malformation, Microcephaly, Micrognathia, Recurrent upper respiratory tr...	ORPHA:3078
16P11.2P12.2 Microdeletion Syndrome	Long nose, Short nose, Orofacial cleft, Anteverted nares, Open mouth, Microretrognathia, Bulbous ...	ORPHA:261211
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Increased head circumference, High, narrow palate, Macrocephaly, Wide...	OMIM:300967
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Anal atr...	ORPHA:1352
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thin vermilion border, Sandal gap, Micromelia, Broad hallux, Syndactyly, Brachydactyly, Long phil...	OMIM:614800
Monosomy 9Q22.3	Short nose, Orofacial cleft, Macrocephaly, Delayed eruption of teeth, Odontogenic keratocysts of ...	ORPHA:77301
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Depressed nasal bridge, Downturned corners of mouth, Wide mouth, Short philtrum	OMIM:619759
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Short Stature And Microcephaly With Genital Anomalies	Microcephaly, Convex nasal ridge, Narrow mouth, Prominent nose	OMIM:618702
15Q Overgrowth Syndrome	Retrognathia, Dental crowding, Abnormality of the incisor, Arachnodactyly, Bifid uvula, Contractu...	ORPHA:314585
Lacrimoauriculodentodigital Syndrome 1	Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy...	OMIM:149730
2Q31.1 Microdeletion Syndrome	Sandal gap, Everted lower lip vermilion, Kyphosis, Long philtrum, Abnormal fibula morphology, Abn...	ORPHA:251014
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Broad finger, Tarsal synost...	OMIM:112910
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Short philtrum, Optic nerve hypoplasia, High palate, Micrognathia, Wide mouth, Abnormal cerebral ...	ORPHA:363686
Leukocyte Adhesion Deficiency Type Ii	Narrow palate, Cerebral atrophy, Severe periodontitis, Premature loss of teeth, Long upper lip, G...	ORPHA:99843
Alkuraya-Kucinskas Syndrome	Short nose, Macrocephaly, Dandy-Walker malformation, Anteverted nares, High palate, Micrognathia,...	OMIM:617822
Microphthalmia, Syndromic 1	Orofacial cleft, Rectal prolapse, Aganglionic megacolon, High, narrow palate, Radial deviation of...	OMIM:309800
Czeizel-Losonci Syndrome	Spina bifida occulta, Hitchhiker thumb, High palate, Ectrodactyly, Myelomeningocele, Tracheoesoph...	ORPHA:2437
46,Xy Sex Reversal 4	Distal symphalangism, Anteverted nares, High palate, Anal atresia, Depressed nasal ridge, Promine...	OMIM:154230
Developmental Delay With Or Without Dysmorphic Facies And Autism	Hypoplasia of the corpus callosum, Short nose, Short philtrum, Cerebellar vermis hypoplasia, Poly...	OMIM:618454
Gm1 Gangliosidosis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Platyspondyly, Abnormal form of th...	ORPHA:354
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Macrocephaly, Rhizomelia, Severe limb shortening, Metaphyseal cupping, Short ribs, Mi...	OMIM:151210
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Anteverted nares, Micrognathia, Downturned corners of mouth, Craniosynostosis, Depressed nasal br...	ORPHA:1064
Microphthalmia, Syndromic 2	Sandal gap, Bifid nasal tip, Bifid uvula, Umbilical hernia, Long philtrum, 2-3 toe cutaneous synd...	OMIM:300166
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Thin vermilion border, Progressive clavicular acroosteolysis, Dental malo...	OMIM:614008
Cornelia De Lange Syndrome 6	Hypoplasia of the corpus callosum, Short nose, Anteverted nares, Microcephaly, Long philtrum, Cle...	OMIM:620568
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the dentition	OMIM:193100
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Flat ac...	OMIM:300106
Microcephaly 30, Primary, Autosomal Recessive	Clinodactyly of the 5th finger, Cleft soft palate, Increased nuchal translucency, Pierre-Robin se...	OMIM:620183
Tarp Syndrome	Rocker bottom foot, Talipes equinovarus, Finger syndactyly, Anteverted nares, Scoliosis, Glossopt...	ORPHA:2886
3C Syndrome	Short nose, Orofacial cleft, Macrocephaly, High, narrow palate, Dandy-Walker malformation, Ectopi...	ORPHA:7
Hypochondroplasia	Abnormal metaphysis morphology, Macrocephaly, Abnormal femur morphology, Bowing of the long bones...	ORPHA:429
Intellectual Developmental Disorder, X-Linked 98	Secondary microcephaly, Long nose, Short nose, Thin vermilion border, Short philtrum, Anteverted ...	OMIM:300912
Yunis-Varon Syndrome	Rocker bottom foot, Redundant neck skin, Broad secondary alveolar ridge, Absent sternal ossificat...	ORPHA:3472
Pfeiffer Syndrome Type 2	Short nose, Deviation of the thumb, Short hallux, Finger syndactyly, High palate, Choanal atresia...	ORPHA:93259
Tetrasomy 5P	Short nose, Long philtrum, Macrocephaly, Anteverted nares, High palate, Micrognathia, Pericallosa...	ORPHA:3309
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Long philtrum, Short 5th finger, Long toe, Joint hypermobility, Anteverted na...	ORPHA:508488
3Q29 Microdeletion Syndrome	Short nose, Orofacial cleft, Macrocephaly, Short philtrum, Dental crowding, High palate, Everted ...	ORPHA:65286
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Hypoplasia of the corpus callosum, Short nose, Abnormal cortical gyration, Progressive microcepha...	OMIM:617527
Grant Syndrome	Wormian bones, Micrognathia, Tibial bowing	OMIM:138930
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he...	ORPHA:231222
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Widely spaced teeth, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Relative macrocepha...	ORPHA:459061
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Carious teeth, Recurrent fractures, Osteoporosis	OMIM:126550
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Thin vermilion border, Macrocephaly, Hypointensity of cerebral white matter on MRI, Downturned co...	OMIM:300860
Beta-Thalassemia Major	Hyperplasia of the maxilla, Genu valgum, Abnormality of the dentition, Osteoporosis, Bowing of th...	ORPHA:231214
Ssr4-Cdg	Hypoplasia of the corpus callosum, Widely spaced teeth, Abnormality of upper lip vermillion, Abno...	ORPHA:370927
Dihydropyrimidine Dehydrogenase Deficiency	Cerebral atrophy, Retrognathia, Macrocephaly, Delayed eruption of teeth, Anteverted nares, Promin...	ORPHA:1675
Autosomal Dominant Spondylocostal Dysostosis	Macrocephaly, Anteverted nares, Microcephaly, Cleft palate, Wide nasal bridge	ORPHA:1797
Prader-Willi Syndrome Due To Translocation	Retrognathia, Everted lower lip vermilion, Microcephaly, Bifid uvula, Wide mouth, Alveolar ridge ...	ORPHA:177907
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia	OMIM:612526
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Hypoplasia of the corpus callosum, Hitchhiker thumb, High palate, Pancreatic aplasia, Microcephal...	OMIM:618500
Mccune-Albright Syndrome	Abnormal femur morphology, Abnormal facial skeleton morphology, Aneurysmal bone cyst, Scoliosis, ...	ORPHA:562
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Cleft upper lip, Tetraamelia, Abnormality of the neck, Abnormality of the dentition	OMIM:273400
22Q11.2 Duplication Syndrome	Wide nose, Depressed nasal ridge, Microcephaly, Micrognathia, Cleft palate, Smooth philtrum	ORPHA:1727
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Hypoplasia of the corpus callosum, Retrognathia, Abnormal metaphysis morphology, Clinodactyly of ...	ORPHA:2637
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Trisomy 18	Narrow palate, Short nose, Esophageal atresia, Anencephaly, Webbed neck, Non-midline cleft of the...	ORPHA:3380
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebral atrophy, Short nose, Macrocephaly, Anteverted nares, High palate, Abnormality of the den...	OMIM:615398
Menke-Hennekam Syndrome 2	Duodenal ulcer, Sandal gap, Narrow nasal bridge, Micrognathia, Cutaneous syndactyly of toes, Recu...	OMIM:618333
Developmental And Epileptic Encephalopathy 6B	Narrow mouth	OMIM:619317
8P Inverted Duplication/Deletion Syndrome	Retrognathia, High, narrow palate, Clinodactyly of the 5th finger, Anteverted nares, Scoliosis, E...	ORPHA:96092
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Cerebellar vermis hypoplasia, Camptodactyly, Microcephaly, Microg...	OMIM:619123
Peters Plus Syndrome	Wide mouth, Umbilical hernia, Long philtrum, Rhizomelia, Anteverted nares, Exaggerated cupid's bo...	ORPHA:709
Baraitser-Winter Cerebrofrontofacial Syndrome	Long nose, Thin vermilion border, Retrognathia, Wide nose, Polymicrogyria, Subcortical cerebral a...	ORPHA:2995
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal columella morphology, Wide nose, Subcortical cerebral atrophy, Narrow mouth, High palate...	ORPHA:2463
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Mandibular progna...	OMIM:259710
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	Wide mouth, Abnormality of mouth shape	ORPHA:83619
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Micrognathia, Malar flattening, Osteolysis	OMIM:176670
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Kyphoscoliosis, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the han...	OMIM:210730
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short r...	OMIM:607778
Hyperparathyroidism-Jaw Tumor Syndrome	Mandibular pain, Hypercalcemia, Hypophosphatemia, Osteoporosis	ORPHA:99880
Double Outlet Right Ventricle	Narrow mouth, Intestinal malrotation, Cleft palate, Abnormality of cartilage of external ear, Sub...	ORPHA:3426
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Short neck, Bilateral cleft lip, Thoracic scoliosis	OMIM:616994
Frontonasal Dysplasia 3	Tessier cleft, Cleft palate, Wide nasal bridge, Underdeveloped nasal alae	OMIM:613456
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Short philtrum, Cleft palate, Hypoplastic sweat glands, Natal tooth, Concave nasal ridge	OMIM:617337
Microphthalmia, Syndromic 11	Cleft upper lip, Cleft palate	OMIM:614402
Trichothiodystrophy 5, Nonphotosensitive	Global brain atrophy, Progressive microcephaly, Optic nerve hypoplasia, Dandy-Walker malformation...	OMIM:300953
Acromesomelic Dysplasia 4	Short finger, Broad finger, Genu valgum, Rhizomelia, Short metatarsal, Sandal gap, Ulnar bowing, ...	OMIM:619636
Branchiootorenal Syndrome 1	Increased overbite, High palate, Microdontia, Congenital hip dislocation, Intestinal malrotation,...	OMIM:113650
Musculocontractural Ehlers-Danlos Syndrome	Short nose, High palate, Narrow mouth, Cleft palate, Prominent nasolabial fold, Malrotation of sm...	ORPHA:2953
Velocardiofacial Syndrome	Retrognathia, Velopharyngeal insufficiency, Cleft palate, Pierre-Robin sequence, Open mouth, Umbi...	OMIM:192430
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Talipes equinovarus, Tongue atrophy	OMIM:616155
Boomerang Dysplasia	Decreased response to growth hormone stimulation test, Abnormal femur morphology, Abnormal tibia ...	ORPHA:1263
Poikiloderma With Neutropenia	Short nose, Retrognathia, Underdeveloped nasal alae, Carious teeth, Micrognathia, Recurrent sinus...	OMIM:604173
Celiac Disease, Susceptibility To, 1	Rickets, Steatorrhea, Recurrent aphthous stomatitis, Stomatitis, Osteoporosis, Enamel hypoplasia,...	OMIM:212750
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Absent cupid's bow, Widely spaced teeth, Tracheomalacia, Lower-limb ...	ORPHA:513456
Lathosterolosis	Short nose, Cerebral calcification, Gingival overgrowth, Anteverted nares, High palate, Biparieta...	ORPHA:46059
Macrocephaly/Autism Syndrome	Short nose, Postnatal macrocephaly, High palate, Biparietal narrowing, Long philtrum, Depressed n...	OMIM:605309
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short metacarpal, Long ph...	OMIM:271640
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Macrocephaly, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phala...	OMIM:601356
Hydrolethalus Syndrome 1	Stillbirth, Midline defect of the nose, Broad neck, Anencephaly, Talipes equinovarus, Upper limb ...	OMIM:236680
Skin Creases, Congenital Symmetric Circumferential, 2	Hypoplasia of the corpus callosum, Narrow mouth, Microdontia, Microcephaly, Carious teeth, Microg...	OMIM:616734
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Thin corpus callosum, Macrocephaly, Short philtrum, Low hanging columella, Narrow nasal ridge, Ma...	OMIM:619512
Prolidase Deficiency	Genu valgum, Depressed nasal ridge, Carious teeth, Micrognathia, Arachnodactyly, Hypoplasia of th...	ORPHA:742
Weiss-Kruszka Syndrome	Hypoplasia of the corpus callosum, Short nose, Anteverted nares, Exaggerated cupid's bow, Horizon...	OMIM:618619
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Multiple joint dislocation, Microdontia, Arachnodactyly, Slender long bones with ...	ORPHA:536467
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Hypoplasia of the corpus callosum, High, narrow palate, Thick lower lip vermilion, Macrocephaly, ...	ORPHA:369950
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Cleft palate, Ankyloglossia	OMIM:303400
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Narrow nasal bridge, Syn...	ORPHA:2639
Tetraamelia Syndrome 1	Single naris, Choanal atresia, Anal atresia, Cleft upper lip, Micrognathia, Cleft palate, Tetraam...	OMIM:273395
Oculocerebrofacial Syndrome, Kaufman Type	Thin vermilion border, High, narrow palate, Retrognathia, Short philtrum, Microdontia, Microcepha...	ORPHA:2707
C Syndrome	Dislocated radial head, Death in infancy, Microcephaly, Abnormality of the anus, Long philtrum, A...	ORPHA:1308
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short nose, Anteverted nares, Depressed nasal bridge, Malar flattening, Macroglossia, Concave nas...	OMIM:613038
Limb-Mammary Syndrome	Hypoplastic nipples, Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly...	OMIM:603543
Autosomal Recessive Faciodigitogenital Syndrome	Long philtrum, Short nose, Clinodactyly of the 5th finger, Finger syndactyly, Anteverted nares, O...	ORPHA:1974
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Thin vermilion border, Retrognathia, Short philtrum, Talipes equinovarus, Dental crowding, Polymi...	OMIM:618343
Mosaic Trisomy 8	Clinodactyly of the 5th finger, Wide nose, Anteverted nares, Scoliosis, Vertebral segmentation de...	ORPHA:96061
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy	OMIM:613435
Pettigrew Syndrome	Calvarial osteosclerosis, Cerebellar vermis hypoplasia, Cerebral calcification, Dandy-Walker malf...	OMIM:304340
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Narrow nasal base, Cleft ala nasi, Breast aplasia, Wide nose, Mandibular prognathia, Decreased te...	ORPHA:3044
Seckel Syndrome	Convex nasal ridge, Clinodactyly of the 5th finger, Sandal gap, Abnormal dental enamel morphology...	ORPHA:808
Distal Deletion 9P	Short nose, High, narrow palate, Abnormality of the dentition, Cleft palate, Wide nasal bridge	ORPHA:1642
Parathyroid Carcinoma	Mandibular pain, Hypercalcemia, Hypophosphatemia, Osteoporosis	ORPHA:143
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Incre...	OMIM:601678
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short nose, Bilateral choanal atresia, Esophageal atresia, Anteverted nares, Choanal atresia, Tra...	OMIM:619859
Coffin-Siris Syndrome 7	Thick lower lip vermilion, Short philtrum, Wide nose, Anteverted nares, Thick nasal alae, Microdo...	OMIM:618027
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Long nose, Enlarged metaphyses, Short metacarpal, Kyphosis, Long philtrum...	ORPHA:508533
Pontocerebellar Hypoplasia, Type 1B	Cerebral atrophy, Progressive microcephaly, Tongue fasciculations, Tongue atrophy	OMIM:614678
Congenital Myopathy 22B, Severe Fetal	Retrognathia, Short nose, Tapered toe, Triangular mouth, Short philtrum, Shoulder flexion contrac...	OMIM:620369
Ring Chromosome 22 Syndrome	Wide nasal base, 2-3 toe syndactyly, Protruding tongue, Microcephaly, Large hands, Thick vermilio...	ORPHA:1446
Solitary Median Maxillary Central Incisor	Solitary median maxillary central incisor, Prominent median palatal raphe, Anosmia, Choanal atres...	OMIM:147250
Plummer-Vinson Syndrome	Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Esophageal web, Tongue atrophy	ORPHA:54028
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Thin vermilion border, Patellar hypoplasia, Short philtrum, Hyperextensibility of the finger join...	ORPHA:3041
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Dislocated radial head, Short metac...	OMIM:609945
Acromelic Frontonasal Dysostosis	Midline defect of the nose, Patellar hypoplasia, Encephalocele, Talipes equinovarus, Midline faci...	OMIM:603671
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Wide nose, Depressed nasal tip, Hypoplasia of the maxilla, Recurr...	ORPHA:2399
8P23.1 Microdeletion Syndrome	Short nose, Thin vermilion border, High palate, Biparietal narrowing, Microcephaly, Micrognathia,...	ORPHA:251071
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Intestinal malrotation, Microcephaly, Downturned corners of mouth, Cleft palate, Broad nasal tip,...	ORPHA:457193
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypoplasia of teeth, Carious teeth, Hypophosphatemic rickets	OMIM:613312
Acrocapitofemoral Dysplasia	Macrocephaly, Micromelia, Abnormal femoral neck morphology, Short palm, Cone-shaped metacarpal ep...	ORPHA:63446
Cadds	Short nose, Micrognathia, Abnormal cerebral white matter morphology	ORPHA:369942
Odontoonychodermal Dysplasia	Conical incisor, Smooth tongue, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t...	OMIM:257980
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Renpenning Syndrome 1	Cerebral atrophy, Short philtrum, Low hanging columella, Mandibular prognathia, High palate, Narr...	OMIM:309500
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Cerebral atrophy, Short nose, Hypoplasia of the corpus callosum, Macrocephaly, Thick lower lip ve...	OMIM:309590
Mosaic Trisomy 1	Rocker bottom foot, Broad 2nd toe, Arachnodactyly, Wide mouth, Long toe, Deviation of the 5th toe...	ORPHA:1692
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Hypoplasia of the corpus callosum, Short nose, Narrow nasal bridge, Microcephaly, Hypodontia	ORPHA:544503
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Increased skull ossification, Tented upper lip...	OMIM:618476
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Platyspondyly, Gingival overgrowth, Scoliosis, Narrow mouth, Protrud...	OMIM:230600
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Kabuki Syndrome 2	Short 5th finger, Prominent fingertip pads, High palate, Depressed nasal tip, Microcephaly, Micro...	OMIM:300867
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Everted upper lip vermilion, Macrocephaly, Widely spaced teeth, Wide nose, Anteverted nares, Wide...	OMIM:619056
Thanatophoric Dysplasia, Type Ii	Temporal lobe dysplasia, Flared metaphysis, Short ribs, Micromelia, Neonatal death, Brachydactyly...	OMIM:187601
Meier-Gorlin Syndrome 6	Short nose, Anteverted nares, Underdeveloped nasal alae, Depressed nasal ridge, Microcephaly, Cle...	OMIM:616835
Chromosome 8Q21.11 Deletion Syndrome	Short philtrum, Exaggerated cupid's bow, High palate, Short metacarpal, Camptodactyly, Micrognath...	OMIM:614230
Difference Of Sex Development-Intellectual Disability Syndrome	Thin vermilion border, Short nose, Downturned corners of mouth, Short philtrum	ORPHA:2983
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Short philtrum, Mandibular prognathia, Scoliosis, High palate, Shortening ...	ORPHA:247262
Benign Schwannoma	Abnormal fibula morphology, Intestinal polyposis, Abnormal esophagus morphology, Nasal polyposis,...	ORPHA:252164
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Short nose, Optic nerve hypoplasia, Micrognathia, Mandibular prognathia	ORPHA:496790
Lethal Congenital Contracture Syndrome 1	Micrognathia, Arthrogryposis multiplex congenita, Widening of cervical spinal canal, Neonatal death	OMIM:253310
Charge Syndrome	Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Webbed neck, Abnormal sof...	ORPHA:138
Genitopatellar Syndrome	Wide nose, Delayed eruption of teeth, Prominent nose, Microcephaly, Short palm, Micrognathia, Pat...	ORPHA:85201
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Abnormal dental enamel morphology, Thick nasal alae, Abnormal...	ORPHA:96169
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus	OMIM:612964
Schuurs-Hoeijmakers Syndrome	Cavum septum pellucidum, Downturned corners of mouth, Volvulus, Wide mouth, Smooth philtrum, Cere...	OMIM:615009
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal bone ossification, Generalized bone demineralization, Abnormal diaphysis morphology, Clu...	ORPHA:73230
Isolated Arrhinia	Tessier cleft, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Absent nasal s...	ORPHA:1134
15q26 overgrowth syndrome	Long philtrum, Mandibular prognathia, Abnormal finger morphology, High palate, Tapered finger, Sc...	DECIPHER:81
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Bilateral cleft palate, Non-midline cleft of the upper lip, Depressed nasal ridge, T...	ORPHA:2003
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Kilquist Syndrome	Midgut malrotation, Mandibular prognathia, Choanal atresia, Intestinal malrotation, Hypoplasia of...	OMIM:619080
Arboleda-Tham Syndrome	Sandal gap, Bifid nasal tip, Intestinal malrotation, Wide mouth, Craniosynostosis, Genu varum, Sh...	OMIM:616268
Aase-Smith Syndrome I	Dandy-Walker malformation, Slender finger, Death in infancy, Cleft palate, Open mouth, Talipes eq...	OMIM:147800
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Lathosterolosis	Short nose, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Butterfly vertebrae, Tali...	OMIM:607330
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Non-midline cleft of the upper lip, Abnormality of the philtrum, Broad thumb, Cleft palate, Large...	ORPHA:1770
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Absent nares, Single naris, Tooth malposition, Hyposmia, Anosmia, Bifid uvula, Failure of eruptio...	ORPHA:2250
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Narrow mouth, Abnormal esophagus morphology, Enamel hypoplasia, Spontaneous esophageal perforatio...	OMIM:226600
Distal Deletion 6P	Orofacial cleft, Clinodactyly of the 5th finger, Short philtrum, Wide nose, Talipes equinovarus, ...	ORPHA:96125
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Donnai-Barrow Syndrome	Short nose, Macrocephaly, Intestinal malrotation, Aplasia/Hypoplasia of the corpus callosum, Depr...	ORPHA:2143
Progressive Non-Infectious Anterior Vertebral Fusion	Thin vermilion border, Short philtrum, Proximal radio-ulnar synostosis, Scoliosis, Hemivertebrae,...	ORPHA:2062
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Widely spaced teeth, Mandibular prognathia, Scoliosis, Protruding tongue, Limitation of movement ...	ORPHA:98794
Kleefstra Syndrome	Short nose, Advanced eruption of teeth, Delayed eruption of teeth, Anteverted nares, Mandibular p...	ORPHA:261494
Image Syndrome	Cryptorchidism, Metaphyseal dysplasia, Depressed nasal bridge, Micromelia	ORPHA:85173
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Toriello-Carey Syndrome	Cerebral atrophy, Short nose, Hypoplasia of the corpus callosum, Abnormal palate morphology, Agan...	ORPHA:3338
Galloway-Mowat Syndrome 3	Cerebral atrophy, Hypoplasia of the corpus callosum, High palate, Narrow mouth, Microcephaly, Mic...	OMIM:617729
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Bilateral choanal atresia, Wide nose, Underdeveloped nasal alae, Scoliosis, ...	OMIM:619525
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebral atrophy, Short nose, Thin vermilion border, Macrocephaly, Anal stenosis, Anteverted nare...	OMIM:614080
Goldberg-Shprintzen Megacolon Syndrome	Hypoplasia of the corpus callosum, Aganglionic megacolon, Microcephaly, Cleft palate, Pachygyria,...	ORPHA:66629
Plaa-Associated Neurodevelopmental Disorder	Hypoplasia of the corpus callosum, Short nose, Abnormal cortical gyration, Cerebral white matter ...	ORPHA:521426
Okur-Chung Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Anteverted nares, Scoliosis, High palate, Protruding tongue, Micr...	OMIM:617062
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Radial deviation of finger, Short philtrum, High palate, Kyphosis, Micrognathia, Prominent nasal ...	OMIM:609944
Tolchin-Le Caignec Syndrome	Narrow mouth, High palate, Micrognathia, Prominent nose, Submucous cleft hard palate, Wide nasal ...	OMIM:618971
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Secondary microcephaly, Short philtrum, Low hanging columella, High palate, Micrognathia, Wide mo...	OMIM:300986
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Cleft lip, Notched primary central incisor, Depressed nasal bridge	OMIM:620519
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Clinodactyly of the 5th finger, Relative macrocephaly, Ectrodactyly, Micrognathia, C...	ORPHA:397590
Holoprosencephaly 11	Microcephaly, Cleft lip, Cleft palate, Agenesis of corpus callosum	OMIM:614226
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Macrocephaly, Inc...	ORPHA:3144
Omodysplasia 1	Limited knee extension, Short humerus, Umbilical hernia, Long philtrum, Fibular hypoplasia, Axill...	OMIM:258315
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Spastic Paraplegia 51, Autosomal Recessive	Long nose, Short philtrum, Microcephaly, Cerebral cortical atrophy, Wide mouth, Bulbous nose, Wid...	OMIM:613744
Achard Syndrome	Arachnodactyly, Micrognathia, Broad skull	OMIM:100700
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
Branchio-Oculo-Facial Syndrome	Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Mi...	ORPHA:1297
Cranioectodermal Dysplasia 3	Widely spaced teeth, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Everted lower lip vermilion, Pos...	OMIM:614099
Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab...	ORPHA:536471
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Tibial bowing, Mesomelia, Genu varum, Hypoplasia of the ulna, Hypoplas...	ORPHA:240
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome	Macroglossia, High palate, Wide mouth, Short philtrum	ORPHA:280384
X-Linked Intellectual Disability, Snyder Type	Megalencephaly, Thick lower lip vermilion, Short philtrum, Dental crowding, Anteverted nares, Man...	ORPHA:3063
Turnpenny-Fry Syndrome	Hypoplasia of the corpus callosum, Hypoplasia of the primary teeth, Macrocephaly, Widely spaced t...	OMIM:618371
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Scoliosis, Congenital contracture, Death in infancy, Cleft upper lip, Cleft palate...	OMIM:613150
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Developmental And Epileptic Encephalopathy 100	Bilateral camptodactyly, Gingival overgrowth, Elbow flexion contracture, High palate, Scoliosis, ...	OMIM:619777
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Anteverted nares, Glossoptosis, Biparietal narrowing, Underdeveloped nasal alae	ORPHA:2031
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Cleft palate, Anosmia	OMIM:612370
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal palate morphology, Thick lower lip vermilion, Narrow philtrum, Anteverted nares, Thick u...	ORPHA:163654
Enlarged Parietal Foramina	Occipital encephalocele, Short clavicles, Myelomeningocele, Broad thumb, Cleft palate, Craniosyno...	ORPHA:60015
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin corpus callosum, Thick lower lip vermilion, Everted lower lip vermilion, Reduced cerebral wh...	OMIM:620075
Down Syndrome	Narrow palate, Short nose, Thick lower lip vermilion, Aganglionic megacolon, Narrow mouth, Abnorm...	ORPHA:870
Marden-Walker Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Scoliosis, Narrow mouth, Kyphosis, Joint sti...	ORPHA:2461
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Micrognathia, Broad columella, Metaphyseal dysplasia, Thick vermilion border, B...	OMIM:250410
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin vermilion border, Anal stenosis, Optic nerve hypoplasia, Narrow mouth, Downturned corners of...	OMIM:620029
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Biparietal narrowing, Prominent nose, Microcephaly, Wide mouth, Malar flattening, Long philtrum, ...	ORPHA:1292
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Split hand, Postaxial hand polydactyly, Micromelia, Microcephaly, Short humerus, Aplasia/Hypoplas...	ORPHA:2491
Distal Deletion 15Q	Generalized joint hypermobility, Short finger, 2-3 toe cutaneous syndactyly, Genu valgum, Short p...	ORPHA:1596
Coffin-Siris Syndrome 4	Everted upper lip vermilion, Thick lower lip vermilion, Short philtrum, Wide nose, Narrow nasal b...	OMIM:614609
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Mosaic Trisomy 20	Retrognathia, Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Limit...	ORPHA:1724
Maternal Uniparental Disomy Of Chromosome 6	Cleft upper lip, Miscarriage, Cleft palate	ORPHA:96181
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Narrow mouth, High palate, Microretrognathia	OMIM:616866
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Short nose, Anteverted nares, High palate, Wide mouth, Prominent nasal bridge, Tri...	OMIM:227330
Holoprosencephaly 4	Median cleft palate, Depressed nasal tip, Absent nasal septal cartilage, Median cleft upper lip, ...	OMIM:142946
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Thakker-Donnai Syndrome	Rectovaginal fistula, Anteverted nares, Narrow mouth, Tracheoesophageal fistula, Anal atresia, Do...	ORPHA:1780
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Microdontia, Microcephaly, Hypoplasia of teeth, Cleft palate, Cryptorchidism	ORPHA:2728
Noonan Syndrome 13	Widely spaced teeth, Cavum septum pellucidum, Anteverted nares, High palate, Microdontia, Microce...	OMIM:619087
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, 2-4 toe syndactyly, Syndact...	OMIM:150230
Jaberi-Elahi Syndrome	Globus pallidus hypointensity on susceptibility-weighted imaging, Short nose, Hypoplasia of the c...	OMIM:617988
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Anteverted nares, Subcortical cerebral atrophy, Everted lower lip vermilion, Protrudi...	ORPHA:96147
Pseudo-Torch Syndrome 1	Anteverted nares, High palate, Microretrognathia, Umbilical hernia, Long philtrum, Cleft lip	OMIM:251290
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Abnormality of...	OMIM:615802
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Short nose, Congenital muscular torticollis, Wide anterior fontanel, Scoliosis, High palate, Cong...	ORPHA:457279
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Retrognathia, Long nose, Clinodactyly of the 5th finger, Neoplasm of the tongue, Prominent nose, ...	ORPHA:3047
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hypoplasia of the corpus callosum, Short nose, Macrocephaly at birth, Rectovestibular fistula, An...	ORPHA:280633
Takenouchi-Kosaki Syndrome	Hypoplasia of the corpus callosum, Widely spaced teeth, Short philtrum, Progressive microcephaly,...	OMIM:616737
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, 2-3 toe syndactyly, Hemivertebrae, Postaxial hand polydactyly, M...	OMIM:264480
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist...	OMIM:609465
Nijmegen Breakage Syndrome	Retrognathia, Anal stenosis, Non-midline cleft of the upper lip, Anal atresia, Short neck, Cleft ...	ORPHA:647
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Addison Disease	Hyperkalemia, Generalized bone demineralization, Hyperuricemia, Increased circulating renin level...	ORPHA:85138
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Shortening of all middle ph...	OMIM:201250
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Microdontia, ...	OMIM:613458
Dubowitz Syndrome	Clinodactyly of the 5th finger, Delayed eruption of teeth, High palate, Carious teeth, Micrognath...	OMIM:223370
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Short ribs, Femoral bowing, Short metacarpal, Tibial bowing, ...	OMIM:304120
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Thin vermilion border, High, narrow palate, Increased overbite, Dental crowding, Relative macroce...	ORPHA:96182
Chromosome 5Q12 Deletion Syndrome	Short philtrum, Low hanging columella, Prominent nose, Micrognathia, Wide mouth, Long philtrum, M...	OMIM:615668
X-Linked Agammaglobulinemia	Hypocalcemia, Arthritis, Glossoptosis, Sinusitis, Osteomyelitis	ORPHA:47
Primrose Syndrome	Reduced bone mineral density, Kyphosis, Generalized osteoporosis, Joint hypermobility, Short dist...	OMIM:259050
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Occipital Horn Syndrome	Absent tibia, Kyphosis, Aplasia/hypoplasia of the humerus, Long philtrum, Joint hypermobility, Ap...	ORPHA:198
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Narrow palate, Long philtrum, Thick lower lip vermilion, Scoliosis, Micrognathia, Joint hypermobi...	ORPHA:555877
Gracile Bone Dysplasia	Hypocalcemia, Decreased skull ossification, Ankyloglossia	OMIM:602361
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Basal ganglia ...	ORPHA:79243
Dermotrichic Syndrome	Short nose, Aganglionic megacolon, Depressed nasal bridge	ORPHA:99688
Ablepharon Macrostomia Syndrome	Thin vermilion border, Anteverted nares, Underdeveloped nasal alae, Microdontia, Hypoplasia of th...	ORPHA:920
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Mandibular prognathia, High palate, Broad nasal tip, Wide mouth, Bulbous nose, Wide nasal bridge,...	OMIM:620475
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Mend Syndrome	Abnormal nasal bridge morphology, Wide anterior fontanel, 2-3 toe syndactyly, High palate, Kyphos...	ORPHA:401973
Restrictive Dermopathy	Osteopenia, Short umbilical cord, Large placenta, Small placenta, Webbed neck, Temporomandibular ...	ORPHA:1662
Simpson-Golabi-Behmel Syndrome, Type 1	Meckel diverticulum, Short ribs, Intestinal malrotation, Broad thumb, Wide mouth, Umbilical herni...	OMIM:312870
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Delayed eruption of teeth, Increased bone mineral density, Hyp...	ORPHA:79444
Generalized Pustular Psoriasis	Cheilitis, Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Geogra...	ORPHA:247353
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Retrognathia, Short philtrum, Microcephaly, Cerebral cortical atrophy, Wide mouth, Aplasia/Hypopl...	ORPHA:1194
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, M...	OMIM:266920
Tenorio Syndrome	Macrocephaly, Recurrent aphthous stomatitis, Wide nose, Cavum septum pellucidum, Anteverted nares...	OMIM:616260
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, High palate, Hyponatremia, Micrognathia	OMIM:617913
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ...	OMIM:300009
Distal Deletion 10Q	Short nose, Inferior cerebellar vermis hypoplasia, Cavum septum pellucidum, High palate, Anal atr...	ORPHA:96148
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Anteverted nares, Short ribs, Narr...	ORPHA:2021
Oncogenic Osteomalacia	Pathologic fracture, Hypocalcemia, Hypophosphatemia, Fibrous dysplasia of the bones, Increased su...	ORPHA:352540
Maternal Phenylketonuria	Hypoplasia of the corpus callosum, Deviated nasal septum, Esophageal atresia, Anteverted nares, H...	ORPHA:2209
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Gener...	OMIM:602450
Opitz Gbbb Syndrome	Tracheomalacia, Hypodontia, Anteverted nares, Ectopic anus, Vertebral segmentation defect, High p...	ORPHA:2745
19Q13.11 Microdeletion Syndrome	Thin vermilion border, Retrognathia, Solitary median maxillary central incisor, Microcephaly, Bro...	ORPHA:217346
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Cerebral calcification, Narrow mouth, Microcephaly, Long philtrum, Leukoencephalopathy	OMIM:619147
Craniofacial Microsomia 1	Occipital encephalocele, Transverse facial cleft, Genu valgum, Branchial anomaly, Maxillozygomati...	OMIM:164210
Familial Adenomatous Polyposis 1	Supernumerary tooth, Duodenal polyposis, Eruption failure, Odontoma, Carious teeth, Colon cancer,...	OMIM:175100
Neurodegeneration With Brain Iron Accumulation 2A	Cerebral atrophy, Short nose, Micrognathia	OMIM:256600
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Hypocalcemia, Thickened cortex of lon...	OMIM:127000
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Coffin-Siris Syndrome	Short nose, Thick lower lip vermilion, Wide nasal base, Delayed eruption of teeth, Dandy-Walker m...	ORPHA:1465
Gapo Syndrome	Long philtrum, High, narrow palate, Thick lower lip vermilion, Short nose, Anteverted nares, Erup...	OMIM:230740
Achondrogenesis Type 2	Short ribs, Delayed proximal femoral epiphyseal ossification, Pierre-Robin sequence, Micromelia	ORPHA:93296
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Abnormal nostril morphology, Branchial anomaly, Prominent fingertip pads, Short palm, Broad nasal...	ORPHA:466950
Neurodevelopmental Disorder With Spasticity And Poor Growth	Secondary microcephaly, High, narrow palate, Anteverted nares, Narrow mouth, Reduced cerebral whi...	OMIM:618076
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Narrow nasal ridge, Joint stiffness, Long philtrum, Short philtrum, Short femoral nec...	OMIM:619127
Fryns Microphthalmia Syndrome	Tessier cleft, Bilateral cleft palate, Neural tube defect, Bilateral cleft lip	OMIM:600776
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Donnai-Barrow Syndrome	Short nose, Macrocephaly, Intestinal malrotation, Broad nasal tip, Malar flattening, Agenesis of ...	OMIM:222448
Martin-Probst Syndrome	Thick lower lip vermilion, Microcephaly, Micrognathia, Wide mouth, Malar flattening, Dental maloc...	OMIM:300519
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Narrow mouth	ORPHA:436174
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Metatarsus adductus, Broad thumb, M...	ORPHA:2249
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Aplasia/Hypoplas...	OMIM:184705
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormal pancreas morphology, Siala...	ORPHA:449432
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Wrist flexion contracture, Long philtrum, Small placenta, Ulnar deviation of ...	OMIM:208150
Trisomy 10P	Abnormality of the nose, Short nose, Orofacial cleft, Thin vermilion border, Retrognathia, Rectov...	ORPHA:171929
Say-Barber-Miller Syndrome	Convex nasal ridge, Thin vermilion border, Patellar hypoplasia, Tooth malposition, Ankle clonus, ...	ORPHA:3132
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia, High palate, Micrognathia, Cleft palate, Malar flattening, Smooth ...	OMIM:235255
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Coxa vara, Micromelia	ORPHA:168555
Hereditary Acrokeratotic Poikiloderma	Abnormal metacarpal morphology, Trismus, Finger syndactyly, Open bite, Gingival bleeding, Abnorma...	ORPHA:2907
Ferguson-Bonni Neurodevelopmental Syndrome	Micrognathia, High palate	OMIM:619699
Acute Adrenal Insufficiency	Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia	ORPHA:95409
Mosaic Trisomy 9	Tessier cleft, Rocker bottom foot, Finger clinodactyly, Dandy-Walker malformation, High palate, B...	ORPHA:99776
Geleophysic Dysplasia 3	Anteverted nares, Limb undergrowth, Thick vermilion border, Brachydactyly, Long philtrum, Bulbous...	OMIM:617809
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Sandal gap, Anteverted nares, Prominent fingertip pads, High palate, Low pos...	OMIM:612863
Cardiofaciocutaneous Syndrome	Short nose, Genu valgum, Cubitus valgus, Webbed neck, Anteverted nares, Scoliosis, High palate, L...	ORPHA:1340
Halperin-Birk Syndrome	Death in childhood, High palate, Micrognathia, Thick vermilion border, Flexion contracture, Umbil...	OMIM:618651
Holt-Oram Syndrome	Cervical C2/C3 vertebral fusion, Proximal placement of thumb, Aplasia of the 1st metacarpal, 1-2 ...	OMIM:142900
Distal Deletion 3P	Thin vermilion border, Clinodactyly of the 5th finger, Anteverted nares, High palate, Postaxial h...	ORPHA:1620
Dyschondrosteosis-Nephritis Syndrome	Ulnar bowing, Microdontia, Micromelia, Aplasia/Hypoplasia of the radius, Radial bowing	ORPHA:1765
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
9Q33.3Q34.11 Microdeletion Syndrome	Tented philtrum, Thin vermilion border, Wide nose, Narrow mouth, Esophagitis, Abnormal periventri...	ORPHA:495818
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Wide nose, Dental crowding, High palate, Narrow mouth, Ankyloglossia, Thick vermil...	OMIM:616078
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ...	OMIM:263520
3Q29 Microduplication Syndrome	Macrocephaly, Sandal gap, Ectopic anus, High palate, Abnormality of the dentition, Biparietal nar...	ORPHA:251038
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Bowing of the legs, Limb undergrowth	ORPHA:156728
Craniofacioskeletal Syndrome	Clinodactyly of the 5th finger, Short philtrum, Short foot, Choanal atresia, Hypoplastic frontal ...	OMIM:300712
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Aganglionic megacolon, Prominent nasal bridge, Bulbous nose	OMIM:613870
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Supernumerary tooth, Retrognathia, Widely spaced teeth, Short nose, Short 5th toe, C...	ORPHA:268261
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Dental malocclusion, Micrognathia, Malar flattening, Camptodactyly	OMIM:608257
Molybdenum Cofactor Deficiency, Complementation Group B	Cerebral atrophy, Short nose, Hypoplasia of the corpus callosum, Thin corpus callosum, Macrocepha...	OMIM:252160
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Oligodactyly, Bifid uvula, Absent thumb, Short humer...	OMIM:218600
Cutis Laxa, Autosomal Recessive, Type Iiia	Narrow nasal ridge, Narrow mouth	OMIM:219150
De Barsy Syndrome	Delayed eruption of teeth, Cerebellar vermis hypoplasia, Progressive microcephaly, Abnormal corpu...	ORPHA:2962
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Spondyloepimetaphyseal Dysplasia, Shohat Type	Generalized bone demineralization, Hyperlordosis, Metaphyseal irregularity, Joint hypermobility, ...	ORPHA:93352
Dend Syndrome	Long philtrum, Short nose, Downturned corners of mouth, Anteverted nares	ORPHA:79134
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Tracheobronchomalacia, Femoral bowing, Median pseudocleft lip, Craniosynostosis, Pt...	OMIM:616462
Alg9-Cdg	Abnormal bone ossification, Low insertion of columella, Low posterior hairline, Bifid uvula, Wide...	ORPHA:79328
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Osteopetrosis, Increased bone mineral density, Hypocalcemia, Gingival overg...	OMIM:259720
Intellectual Developmental Disorder, Autosomal Dominant 57	Narrow mouth, High palate, Microcephaly, Broad nasal tip, Prominent nasal bridge, Thin upper lip ...	OMIM:618050
Rabson-Mendenhall Syndrome	Polydactyly, Advanced eruption of teeth, Wide nose, Dental crowding, Mandibular prognathia, Gingi...	ORPHA:769
Floating-Harbor Syndrome	Kyphoscoliosis, Long nose, Dislocated radial head, Short metacarpal, Microdontia, Wide mouth, Cli...	ORPHA:2044
Achondroplasia	Short proximal phalanx of finger, Macrocephaly, Rhizomelia, Anteverted nares, Trident hand, Short...	ORPHA:15
17Q24.2 Microdeletion Syndrome	Broad neck, Cubitus valgus, Abnormality of the wrist, Short philtrum, Tooth malposition, Upper li...	ORPHA:529962
Apert Syndrome	Megalencephaly, Broad thumb, Bifid uvula, Syndactyly, Narrow palate, Postaxial hand polydactyly, ...	OMIM:101200
Autosomal Spastic Paraplegia Type 18	Hypoplasia of the corpus callosum, Short philtrum, High palate, Wide mouth, Macroglossia	ORPHA:209951
Mucopolysaccharidosis Type 4	Grayish enamel, Macrocephaly, Abnormal dental enamel morphology, Anteverted nares, Abnormality of...	ORPHA:582
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Underdeveloped nasal alae, Cleft palate, Broad nasal tip, Thick vermilion bo...	ORPHA:250999
Fanconi Anemia, Complementation Group P	Hypoplasia of the radius, Microcephaly, Micrognathia, Absent thumb, Short thumb, Cryptorchidism, ...	OMIM:613951
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Naxos Disease	Cleft upper lip	ORPHA:34217
Mesomelic Dysplasia, Nievergelt Type	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Clinodactyly of the 5th...	ORPHA:2633
Primary Pulmonary Hypoplasia	Microcephaly, Micrognathia, Cleft palate, Patellar hypoplasia	ORPHA:2257
Stolerman Neurodevelopmental Syndrome	Mandibular prognathia, Abnormality of the dentition, Bifid uvula, Wide mouth, Thick vermilion bor...	OMIM:618505
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Short nose, Low insertion of columella, Dental crowding, Anteverted nares, Underdeveloped nasal a...	OMIM:619005
Van Esch-O'Driscoll Syndrome	Cerebral atrophy, Short nose, Retrognathia, Esophageal atresia, Tracheoesophageal fistula, Microc...	OMIM:301030
Pseudoaminopterin Syndrome	Limited elbow movement, Clinodactyly of the 5th toe, Microdontia, Overlapping toe, Clinodactyly o...	ORPHA:221120
Cronkhite-Canada Syndrome	Macrocephaly, Intestinal polyposis, Stomach cancer, Furrowed tongue, Hamartomatous polyposis, Col...	ORPHA:2930
Bazex-Dupre-Christol Syndrome	Narrow nasal ridge, Furrowed tongue, Underdeveloped nasal alae, Low hanging columella	OMIM:301845
Gardner Syndrome	Supernumerary tooth, Odontoma, Abnormality of the dentition, Multiple unerupted teeth, Esophageal...	ORPHA:79665
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Short nose, Anteverted nares, Abnormality of the dentition, Porencephalic cyst, Downturned corner...	OMIM:612394
Noonan Syndrome 5	Macrocephaly, Mandibular prognathia, Wide mouth, Thick vermilion border, Depressed nasal bridge	OMIM:611553
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Cavum septum pellucidum, Microcephaly, Downturned corners of mouth, Partial absence of cerebellar...	ORPHA:329224
Dyggve-Melchior-Clausen Disease	Multicentric ossification of proximal humeral epiphyses, Cone-shaped epiphyses of the phalanges o...	OMIM:223800
Myopathy, Myofibrillar, 7	Shoulder flexion contracture, Scoliosis, Elbow flexion contracture, Thoracic kyphosis, Achilles t...	OMIM:617114
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hypoplasia of the corpus callosum, Preaxial polydactyly, Anencephaly, Cerebellar vermis hypoplasi...	OMIM:616546
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Narrow palate, Supernumerary tooth, Broad distal phalanx of finger, Abnormal proximal phalanx mor...	ORPHA:353281
Keppen-Lubinsky Syndrome	Short philtrum, Narrow nasal bridge, Gingival overgrowth, Prominent nasal tip, High palate, Scoli...	ORPHA:435628
Hypercholanemia, Familial 1	Rickets, Steatorrhea, Fat malabsorption	OMIM:607748
H Syndrome	Recurrent pharyngitis, Gingival overgrowth, Camptodactyly, Chronic rhinitis, Cleft upper lip, Hal...	ORPHA:168569
Oligomeganephronia	Micrognathia, Branchial cyst	ORPHA:2260
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Periventricular white matter hyperintensities, Megalencephaly, Macrocephaly, Cerebral white matte...	ORPHA:500533
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Delayed eruption of teeth, Cerebral calcif...	ORPHA:1855
Campomelia, Cumming Type	Abnormal intestine morphology, Bowing of the long bones, Death in infancy, Micromelia, Cleft pala...	ORPHA:1318
Smith-Mccort Dysplasia 1	Genu valgum, Short metacarpal, Microcephaly, Short phalanx of finger, Hypoplasia of the odontoid ...	OMIM:607326
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Calvarial osteosclerosis, Decreased skull ossification, Cortical thickenin...	ORPHA:93325
Keppen-Lubinsky Syndrome	Short philtrum, Narrow nasal bridge, Gingival overgrowth, Scoliosis, High palate, Micrognathia, T...	OMIM:614098
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Hypoplasia of the corpus callosum, Fibular bowing, Femoral bowing, Tibial bowing, Microcephaly, M...	ORPHA:85165
Multiple Benign Circumferential Skin Creases On Limbs	Microcephaly, Micrognathia, Cleft palate, Long philtrum, Cryptorchidism	ORPHA:2505
3Mc Syndrome 3	Tessier cleft, Preaxial polydactyly, Cleft upper lip, Cleft palate, Radioulnar synostosis, Clinod...	OMIM:248340
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Everted lower lip vermilion, Wide mouth, Open mouth, Macroglossia, Bulbous nose, Depressed nasal ...	OMIM:616789
Axenfeld-Rieger Syndrome, Type 1	Anal stenosis, Short philtrum, Oligodontia, Microdontia, Anal atresia, Hypoplasia of the maxilla,...	OMIM:180500
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Timothy Syndrome	Hypocalcemia, Thin upper lip vermilion, Microdontia	OMIM:601005
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Tented upper lip vermilion	OMIM:606407
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Micrognathia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Cranioectodermal Dysplasia 2	Retrognathia, Short ribs, Everted lower lip vermilion, Microdontia, Mesomelia, Syndactyly, Broad ...	OMIM:613610
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Low posterior hairline, Death in infancy,...	OMIM:612289
Pseudohypoparathyroidism Type 1A	Calcinosis, Reduced bone mineral density, Hypocalcemic seizures, Delayed eruption of teeth, Incre...	ORPHA:79443
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Laron Syndrome	Limb undergrowth	OMIM:262500
21Q22.11Q22.12 Microdeletion Syndrome	Thick lower lip vermilion, Cone-shaped epiphyses of the phalanges of the hand, Dental crowding, A...	ORPHA:261323
Astley-Kendall Dysplasia	Micromelia	ORPHA:85175
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Absent thumb	OMIM:619239
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
Pfeiffer Syndrome Type 1	Short nose, High palate, Depressed nasal bridge	ORPHA:93258
Bone Dysplasia, Lethal Holmgren Type	Abnormal thumb morphology, Abnormal femur morphology, Rhizomelia, Abnormal diaphysis morphology, ...	ORPHA:1842
Limb-Mammary Syndrome	Cleft hard palate, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Oligodactyly,...	ORPHA:69085
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Glossitis, Hypokalemia, Hypomagnesemia, Hypocalcemia	OMIM:175500
Deeah Syndrome	Narrow palate, Short nose, Retrognathia, Short philtrum, Prominent nasal tip, High palate, Narrow...	OMIM:619004
Williams Syndrome	Abnormal circulating lipid concentration, Everted lower lip vermilion, Microdontia, Joint stiffne...	ORPHA:904
Lethal Congenital Contracture Syndrome 9	Short umbilical cord, Axillary pterygium, Talipes equinovarus, Anteverted nares, Thoracic kyphosc...	OMIM:616503
Barber-Say Syndrome	Delayed eruption of teeth, Anteverted nares, Wide mouth, Bulbous nose, Wide nasal bridge	ORPHA:1231
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Kyphoscoliosis, Radial deviation of finger, Hypoplastic philtrum, Wide mouth, Clinodactyly, Antev...	OMIM:309580
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Short philtrum, Mandibular prognathia, Tapered finger, Calcaneovalgus deformity, Prominent metopi...	ORPHA:521445
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Osteopetrosis, Thick lower lip vermilion, Tooth malposition, Hypocalcemia, High pal...	ORPHA:2785
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Prominent fingertip pads, Hyperlordosis, Everted lower lip vermilion, Microdontia, Sh...	OMIM:615873
Charcot-Marie-Tooth Disease, Type 4C	Hammertoe, Tongue fasciculations, Scoliosis, Talipes equinovarus, Tongue atrophy	OMIM:601596
Isolated Exencephaly	Abnormal facial skeleton morphology, Anterior pituitary hypoplasia, Hypoplasia of the frontal bon...	ORPHA:563612
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Fg Syndrome Type 1	Macrocephaly, Optic nerve hypoplasia, Dental crowding, High palate, Choanal atresia, Fused teeth,...	ORPHA:93932
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Osteochondritis dissecans, Intervertebral disk degeneration, Knee osteoarthritis, S...	ORPHA:284984
Lethal Kniest-Like Dysplasia	Macrocephaly, Abnormal cartilage matrix, Flared metaphysis, Mesomelic/rhizomelic limb shortening,...	ORPHA:2347
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Tapered finger, Downturned corners of mouth, Broad nasal tip, Brachydactyly, Submuco...	OMIM:619680
Viss Syndrome	Rocker bottom foot, Retrognathia, Recurrent joint dislocation, Kyphosis, Intestinal malrotation, ...	OMIM:619472
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Death in infancy, ...	OMIM:210710
1Q21.1 Microdeletion Syndrome	Clinodactyly of the 5th finger, High palate, Ankyloglossia, Bulbous nose, Microcephaly, Broad thu...	ORPHA:250989
Bencze Syndrome	Submucous cleft hard palate, Open bite	ORPHA:1241
Coffin-Lowry Syndrome	Narrow palate, Short nose, Rectal prolapse, Thick lower lip vermilion, Widely spaced teeth, Wide ...	OMIM:303600
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Abs...	OMIM:274000
Short Stature, Microcephaly, And Endocrine Dysfunction	Long nose, Tooth malposition, Microcephaly, Limb undergrowth, Simplified gyral pattern, Broad nas...	OMIM:616541
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Microcephaly, Cryptorchidism, Aplasia/Hypoplasia of the cerebellum, Micromelia	ORPHA:2772
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Dumbbell-shaped hu...	ORPHA:1836
Aprosencephaly And Cerebellar Dysgenesis	Craniosynostosis, Micrognathia, Bifid uvula, Talipes equinovarus	OMIM:601374
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypoplasia of the corpus callosum, Annular pancreas, Macrocephaly, Clinodactyly of the 5th finger...	OMIM:616975
Chromosome 15Q25 Deletion Syndrome	Thin vermilion border, Webbed neck, Cleft upper lip, Long fingers, Cleft palate, Tented upper lip...	OMIM:614294
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Abnormality of the anus, Long philtrum, Short 5th finger, Delayed closure of the ant...	OMIM:607872
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Perrault Syndrome 3	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:614129
Pheochromocytoma	Hypercalcemia	OMIM:171300
Ritscher-Schinzel Syndrome 4	Narrow palate, Short philtrum, Dandy-Walker malformation, High palate, Wide mouth, Thick vermilio...	OMIM:619435
White-Kernohan Syndrome	Dysplastic corpus callosum, Short nose, Retrognathia, Rectovaginal fistula, Anteverted nares, Und...	OMIM:619426
Unilateral Ocular Duplication	Midline facial cleft, Cleft palate, Encephalocele, Median cleft upper lip	ORPHA:3374
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Camptodactyly of toe, Cleft palate, Natal ...	ORPHA:158687
Acrorenal-Mandibular Syndrome	Narrow palate, Hypoplasia of the radius, Hypoplasia of the ulna, Kyphoscoliosis, Butterfly verteb...	OMIM:200980
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Multiple joint dislocation, Dental crowding, Hyperlordosis, Wide mouth, Joint hypermobility, Elbo...	OMIM:619503
Warburg Micro Syndrome 2	Secondary microcephaly, Short nose, Hypoplasia of the corpus callosum, Global brain atrophy, Poly...	OMIM:614225
Meckel Syndrome	Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malformation, Postaxial hand...	ORPHA:564
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Hypoplasia of the corpus callosum, Short nose, Retrognathia, Widely spaced teeth, Solitary median...	OMIM:301044
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,...	OMIM:150400
X-Linked Intellectual Disability, Armfield Type	Limited elbow extension, Short philtrum, Mandibular prognathia, Micrognathia, Cleft palate, Wide ...	ORPHA:85276
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Narrow mouth, Microcephaly, Pyloric stenosis, Micrognathia, Cleft palate, Diffuse c...	ORPHA:83617
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Thin vermilion border, Macrocephaly, Thick lower lip vermilion, Hippocampal atrophy, Anteverted n...	OMIM:614756
Aymé-Gripp Syndrome	Hypoplasia of the corpus callosum, Short nose, Oligodontia, Narrow mouth, Cerebral cortical atrop...	ORPHA:1272
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology, Hypocalcemic seizures	OMIM:612301
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Arachnodactyly, Bifid uvula, Absent thumb, Joint hypermobility, Short philtrum, H...	ORPHA:500150
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short nose, Fibular hypoplasia, Subglottic stenosis, Abnormal vertebral morphology, Cervical C2/C...	ORPHA:444077
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Macrocephaly, Megalencephaly, Polymicrogyria, Abnormal corpus callosum morphology, Wide mouth, Op...	ORPHA:457485
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Jeune Syndrome	Abnormal metaphysis morphology, Postaxial hand polydactyly, Micromelia, Brachydactyly, Toe syndac...	ORPHA:474
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Retrognathia, Rectal prolapse, Long philtrum, Death in childhood, Sandal gap, Tracheo...	OMIM:613177
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Cerebral atrophy, Hypoplasia of the corpus callosum, Anteverted nares, Gingival overgrowth, Protr...	OMIM:618797
Pfeiffer Syndrome Type 3	Short nose, High palate, Choanal atresia, Anal atresia, Intestinal malrotation, Cleft palate, Dep...	ORPHA:93260
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Intestinal malrotation...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Intestinal malrotation...	ORPHA:353277
Diamond-Blackfan Anemia 21	Microcephaly, Micrognathia, Narrow mouth	OMIM:620072
Genetic Recurrent Myoglobinuria	Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia	ORPHA:99845
Meckel Syndrome 14	Retrognathia, Occipital encephalocele, Anteverted nares, Postaxial hand polydactyly, Bowing of th...	OMIM:619879
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Fat malabsorption, Epistaxis	OMIM:211600
Apc-Related Attenuated Familial Adenomatous Polyposis	Supernumerary tooth, Duodenal polyposis, Odontoma, Esophageal carcinoma, Colon cancer, Adenomatou...	ORPHA:247806
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Metatarsus adductus, Mesomelia, Radioulnar synostosis, Metatarsal...	OMIM:163400
Menke-Hennekam Syndrome 1	Everted upper lip vermilion, Sandal gap, Umbilical hernia, Long philtrum, Joint hypermobility, Ov...	OMIM:618332
Ollier Disease	Multiple enchondromatosis, Abnormal cartilage morphology, Abnormal metaphysis morphology, Micromelia	ORPHA:296
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Talipes equinovarus, Postaxial hand polydactyly, Cleft uppe...	OMIM:612284
Cutis Marmorata Telangiectatica Congenita	Orofacial cleft, Reduced bone mineral density, Finger syndactyly, Scoliosis, Micrognathia, Short ...	ORPHA:1556
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Poikilo...	OMIM:618278
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hammertoe, Adenocarcinoma of the colon, Microcephaly, Micrognathia, Multinodular goiter, Multiple...	OMIM:620189
Coffin-Siris Syndrome 12	Ridged cranial sutures, Broad thumb, Joint hypermobility, Anteverted nares, Scoliosis, Radioulnar...	OMIM:619325
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anal fissure, Narrow mouth, Abnormal esophagus morphology, Ankyloglossia, Carious teeth, Flexion ...	ORPHA:89842
Buratti-Harel Syndrome	Clinodactyly of the 5th finger, High palate, Broad thumb, Velopharyngeal insufficiency, Bifid uvu...	OMIM:619314
Dent Disease	Rickets, Delayed epiphyseal ossification, Elevated circulating creatine kinase concentration, Spa...	ORPHA:1652
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Abnormal nasal tip morphology, Reduced bone mineral density, Dental crowding, Narro...	ORPHA:740
Al Amyloidosis	Abnormal salivary gland morphology, Xerostomia, Macroglossia	ORPHA:85443
Meckel Syndrome, Type 4	Hypoplasia of the corpus callosum, Anencephaly, Dandy-Walker malformation, Postaxial hand polydac...	OMIM:611134
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Periventricular white matter hyperintensities, Long nose, Short philtrum, Anteverted nares, High ...	OMIM:620224
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate, Lip pit	ORPHA:1072
Monosomy 18Q	Short philtrum, Mandibular prognathia, High palate, Biparietal narrowing, Prominent nose, Microce...	ORPHA:1600
Constricting Bands, Congenital	Tessier cleft, Encephalocele, Scoliosis, Cleft upper lip, Hand polydactyly, Cleft palate, Syndact...	OMIM:217100
Trichothiodystrophy 1, Photosensitive	Short nose, Retrognathia, Intestinal obstruction, Triangular mouth, Microcephaly	OMIM:601675
Bohring-Opitz Syndrome	Retrognathia, Fixed elbow flexion, Joint dislocation, Anteverted nares, Metacarpophalangeal joint...	ORPHA:97297
Chromosome 1P36 Deletion Syndrome, Proximal	Anteverted nares, Bifid nasal tip, High palate, Camptodactyly, Micrognathia, Cleft palate, Cleft ...	OMIM:619343
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Short nose, Macrocephaly, Intestinal polyposis, Wide nose, Anteverted nares, Abnor...	ORPHA:109
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Absent vertebra, Syndacty...	OMIM:134780
Nicolaides-Baraitser Syndrome	Short nose, High, narrow palate, Thick lower lip vermilion, Widely spaced teeth, Wide nasal base,...	OMIM:601358
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge...	ORPHA:319675
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Cleft palate, Webbed neck	ORPHA:33001
Mietens Syndrome	Microcephaly, Short nose, Wide nasal bridge, Wide nose	ORPHA:2557
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Hypoproteinemia, High palate, Micrognathia, Smooth philtrum, Thin upper lip vermili...	ORPHA:1655
Alpha-Thalassemia	Malar prominence, Hyperplasia of the maxilla	ORPHA:846
Neurofibroma	Multiple intestinal neurofibromatosis, Macrocephaly, Intestinal bleeding, Enlargement of parotid ...	ORPHA:252183
Larsen Syndrome	Broad distal phalanx of finger, Finger syndactyly, Accessory carpal bones, Broad thumb, Cleft pal...	ORPHA:503
Familial Adenomatous Polyposis	Supernumerary tooth, Duodenal polyposis, Colorectal polyposis, Stomach cancer, Eruption failure, ...	ORPHA:733
Pentalogy Of Cantrell	Orofacial cleft, Abnormal tibia morphology, Anencephaly, Encephalocele, Non-midline cleft of the ...	ORPHA:1335
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Reduced bone mineral density, Delayed eruption of teeth, Hypocalcemia, Premature l...	ORPHA:667
Cleft Soft Palate	Cleft soft palate	OMIM:119570
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Kyphoscoliosis, Cleft soft palate, Large joint hypermobilty, Umbilical hernia, Small ...	OMIM:614557
Juvenile Polyposis Of Infancy	High, narrow palate, Macrocephaly, Rectal prolapse, Protein-losing enteropathy, Narrow mouth, Ham...	ORPHA:79076
Ring Chromosome 13 Syndrome	Aplasia/hypoplasia involving bones of the hand, Hypoplasia of the gallbladder, Anencephaly, Short...	ORPHA:96176
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Thin corpus callosum, Macrocephaly, Short philtrum, Cerebellar vermis hypoplasia, Optic nerve hyp...	OMIM:620455
Vacterl/Vater Association	Occipital encephalocele, Anencephaly, Finger syndactyly, Non-midline cleft of the upper lip, Vert...	ORPHA:887
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Scoliosis, Hyperlordosis, Tongue atrophy	OMIM:620285
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hyperphosphatemia, Reduced bone mineral density, Hypomagnesemia	ORPHA:428
Lowe Oculocerebrorenal Syndrome	Rickets, Wrist swelling, Genu valgum, Platyspondyly, Pathologic fracture, Osteomalacia, Finger sw...	OMIM:309000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Smooth tongue, Enamel hypoplasia, Oral mucosal blisters, Craniosynostosis	ORPHA:79396
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Death in childhood, Death in adolescence, Osteoporosis	OMIM:560000
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus	OMIM:612310
Meier-Gorlin Syndrome 7	Anal stenosis, Progressive microcephaly, Narrow mouth, High palate, Anal atresia, Choanal atresia...	OMIM:617063
Trisomy 8P	Retrognathia, Clinodactyly of the 5th toe, Clinodactyly of the 2nd finger, Microcephaly, Bifid uv...	ORPHA:264450
Branchiootic Syndrome 3	Commissural lip pit, Branchial cyst	OMIM:608389
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebral atrophy, Hypoplasia of the corpus callosum, Irregular dentition, Wide mouth, Leukoenceph...	OMIM:619260
Loeys-Dietz Syndrome	Orofacial cleft, Joint dislocation, Scoliosis, High palate, Camptodactyly of finger, Micrognathia...	ORPHA:60030
Culler-Jones Syndrome	Postaxial polydactyly, Cleft upper lip, Cleft palate	OMIM:615849
Pitt-Hopkins Syndrome	Abnormal palate morphology, Aganglionic megacolon, Short philtrum, Tooth malposition, Anteverted ...	ORPHA:2896
Aica-Ribosiduria Due To Atic Deficiency	Anteverted nares, Prominent nasal bridge, Wide mouth, Thin upper lip vermilion	OMIM:608688
Ulbright-Hodes Syndrome	Thin vermilion border, Hypoplasia of the radius, Fibular aplasia, Talipes equinovarus, Long upper...	ORPHA:3404
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Fibromuscular Dysplasia, Multifocal	Shoulder subluxation, Joint subluxation, Dental crowding, Scoliosis, High palate, Micrognathia, M...	OMIM:619329
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia, Ovarian neoplasm	ORPHA:2221
X-Linked Intellectual Disability, Cabezas Type	Macrocephaly, Thick lower lip vermilion, Short philtrum, Open bite, High palate, Biparietal narro...	ORPHA:85293
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Scoliosis, Hyperlordosis, Protruding tongue, Flexion ...	ORPHA:258
Paternal Uniparental Disomy Of Chromosome 6	Retrognathia, Gingival overgrowth, High palate, Prominent nose, Micrognathia, Umbilical hernia, J...	ORPHA:96191
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619203
Charge Syndrome	Anosmia, Tracheoesophageal fistula, Absent tibia, Umbilical hernia, Absent radius, Bifid femur, H...	OMIM:214800
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Thick lower lip vermilion, Anteverted nares, Thick upper lip vermilion, Wide mouth, Malar flatten...	OMIM:611717
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short nose, Thin vermilion border, Rectal prolapse, Retrognathia, Dental crowding, Anteverted nar...	OMIM:617157
Jansen-De Vries Syndrome	Anteverted nares, Wide mouth, Thin upper lip vermilion	OMIM:617450
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Short nose, High palate, Narrow mouth, Intestinal malrotation, Cleft palate, Abnormal duodenum mo...	OMIM:601776
Hypomagnesemia 3, Renal	Amelogenesis imperfecta, Rickets, Hypocalcemic seizures, Increased circulating beta-C-terminal te...	OMIM:248250
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the dentition, Abnorma...	ORPHA:158668
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Thin corpus callosum, Exaggerated cupid's bow, Narrow mouth, Bifid uvula, Broad nasal tip, Thick ...	OMIM:619480
Zimmermann-Laband Syndrome 1	Macrocephaly, Short philtrum, Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrow...	OMIM:135500
Bosma Arhinia Microphthalmia Syndrome	Dental malocclusion, High palate, Anosmia, Choanal atresia, Hypoplasia of teeth, Paranasal sinus ...	OMIM:603457
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Arthritis, Elevated circulating creatine kinase concentration, Sinusitis, Septic ar...	ORPHA:36234
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Fountain Syndrome	Abnormal palate morphology, Macrocephaly, Thick lower lip vermilion, Craniofacial hyperostosis, G...	ORPHA:3219
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Igg4-Related Thyroid Disease	Euthyroid goiter, Sialadenitis, Abnormal pituitary gland morphology, Nodular goiter, Goiter, Panc...	ORPHA:64744
Perlman Syndrome	Distal ileal atresia, Everted upper lip vermilion, Long upper lip, Volvulus, Micrognathia, Tented...	OMIM:267000
Castleman Disease	Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration, Decreased mean c...	ORPHA:160
Multiple Endocrine Neoplasia Type 2	Joint hypermobility, Hypercalcemia, Thick vermilion border, Abnormal tongue morphology	ORPHA:653
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Narrow mouth, Everted lower lip vermilion, Microcephaly, Wide nasal ridge,...	ORPHA:459070
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Short 4th metacarpal, Genu valgum, Rhizomelia, Bowed humerus, Metaphyseal cupping, Flared metaphy...	OMIM:618019
Molybdenum Cofactor Deficiency, Complementation Group A	Cerebral atrophy, Short nose, Hypoplasia of the corpus callosum, Macrocephaly, Microcephaly, Thic...	OMIM:252150
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, Sp...	ORPHA:93322
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormality of mouth shape, Webbed neck, Short ribs, Depressed nasal r...	ORPHA:3003
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Chops Syndrome	Short nose, High, narrow palate, Anteverted nares, Microcephaly, Downturned corners of mouth, Lon...	OMIM:616368
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Death in infancy, Intestinal...	OMIM:270400
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypoplasia of the corpus callosum, Widely spaced teeth, Short philtrum, Dandy-Walker malformation...	ORPHA:487796
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Macrocephaly, Micromelia, Brachydactyly, Depressed nasal bridge	ORPHA:2655
Trichohepatoenteric Syndrome 1	Wide nose, Anteverted nares, Narrow mouth, Depressed nasal ridge, Bifid uvula, Wide mouth, Long p...	OMIM:222470
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Retrognathia, Hypoplastic vertebral bodies, Short humerus, Joint hypermobility, L...	ORPHA:3455
Cranioectodermal Dysplasia 1	High, narrow palate, Widely spaced teeth, Hypocalcemia, High palate, Everted lower lip vermilion,...	OMIM:218330
Primary Intestinal Lymphangiectasia	Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia	ORPHA:90362
Iniencephaly	Orofacial cleft, Anencephaly, Dandy-Walker malformation, Narrow mouth, Mandibular aplasia, Anal a...	ORPHA:63259
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Anal fissure, Foot joint contracture, Narrow mouth, Osteoporosis, Ankyloglossia, Cari...	ORPHA:79408
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormality of the submandibular gl...	ORPHA:79078
Spondylocarpotarsal Synostosis Syndrome	Short nose, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, Bowed humerus...	OMIM:272460
Proboscis Lateralis	Abnormal ethmoid bone morphology, Orofacial cleft, Agenesis of canine, Abnormal facial skeleton m...	ORPHA:141099
Williams-Beuren Syndrome	Osteopenia, Thick lower lip vermilion, Hypodontia, Microdontia, Osteoporosis, Radioulnar synostos...	OMIM:194050
Noonan Syndrome 4	Macrocephaly, Wide mouth, Thick vermilion border, Dental malocclusion, Depressed nasal bridge	OMIM:610733
Cartilage-Hair Hypoplasia	Tibial bowing, Mesomelia, Aganglionic megacolon, Rhizomelia, Anteverted nares, Micromelia, Abnorm...	ORPHA:175
22Q11.2 Deletion Syndrome	Aganglionic megacolon, Short philtrum, Abnormal dental enamel morphology, Narrow mouth, Abnormali...	ORPHA:567
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Limb undergrowth, Depressed nasal ridge	ORPHA:1861
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Macrocephaly, Polymicrogyria, Wide mouth, Aplasia/Hypoplasia of the cerebellum, Depressed nasal b...	ORPHA:60040
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia	ORPHA:93283
Jacobsen Syndrome	Short nose, Macrocephaly, Anteverted nares, Microcephaly, Pyloric stenosis, Micrognathia, Depress...	OMIM:147791
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Macrocephaly, Micromelia, Brachydactyly, Depressed nasal bridge	ORPHA:93274
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619665
Galloway-Mowat Syndrome 1	Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Dandy-Walker malform...	OMIM:251300
Pitt-Hopkins Syndrome	Secondary microcephaly, Hypoplasia of the corpus callosum, Widely spaced teeth, Short philtrum, F...	OMIM:610954
Semilobar Holoprosencephaly	Solitary median maxillary central incisor, Proboscis, Single naris, Neural tube defect, Scoliosis...	ORPHA:220386
Alobar Holoprosencephaly	Solitary median maxillary central incisor, Proboscis, Single naris, Neural tube defect, Scoliosis...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Solitary median maxillary central incisor, Proboscis, Single naris, Neural tube defect, Scoliosis...	ORPHA:93926
Lobar Holoprosencephaly	Solitary median maxillary central incisor, Proboscis, Single naris, Neural tube defect, Scoliosis...	ORPHA:93924
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Orofacial cleft, Hypoplasia of the radius, Aplasia/Hypoplasia of the thum...	ORPHA:3186
Aica-Ribosiduria	Wide mouth, Thin upper lip vermilion	ORPHA:250977
Isotretinoin-Like Syndrome	Microcephaly, Anteverted nares, Micrognathia, Cleft palate	ORPHA:2306
Angelman Syndrome	Widely spaced teeth, Scoliosis, Mandibular prognathia, Protruding tongue, Wide mouth	ORPHA:72
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Butterfly vertebrae, Submucous cleft hard palate, Bifid uvula, Absence of the sacrum, Spinal dysr...	OMIM:617660
Neuroocular Syndrome	Retrognathia, Widely spaced teeth, Clinodactyly of the 5th finger, Short uvula, Increased overbit...	OMIM:619539
Degcags Syndrome	Retrognathia, Low posterior hairline, Wide mouth, Syndactyly, Long philtrum, Craniosynostosis, Po...	OMIM:619488
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Bowing of the long bones, Flared radial metaphysis, Broad tibial metaphyses, Mes...	ORPHA:85170
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Depressed nasal ...	OMIM:614083
Renal Agenesis, Bilateral	Sirenomelia, Non-midline cleft of the upper lip, Abnormal intestine morphology, Tracheoesophageal...	ORPHA:1848
Cornelia De Lange Syndrome	Proximal placement of thumb, Oligodactyly, Intestinal malrotation, Microcephaly, Long philtrum, A...	ORPHA:199
Multiple Endocrine Neoplasia Type 1	Reduced bone mineral density, Gingival fibromatosis, Hypercalcemia, Osteolysis, Increased suscept...	ORPHA:652
Fraser Syndrome 2	Wide nose, Narrow mouth, Anal atresia, Intestinal malrotation, Rectal atresia, Underdeveloped nas...	OMIM:617666
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia...	ORPHA:26793
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Reduced bone mineral density, Hypophosphatemic rickets, Osteomalacia, Pathologic fracture, Bowing...	ORPHA:157215
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Rhizomelia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, High palate, Me...	OMIM:618162
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Global brain atrophy, Frontal cortical atrophy, Microcephaly, Cleft palate, ...	ORPHA:2714
Hereditary Mucoepithelial Dysplasia	Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula	ORPHA:1839
Mucopolysaccharidosis, Type Ivb	Grayish enamel, Thin corpus callosum, Widely spaced teeth, Mandibular prognathia, Carious teeth, ...	OMIM:253010
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hypochromic microcytic anemia, Iro...	ORPHA:97214
Microphthalmia, Syndromic 6	Polydactyly, Retrognathia, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Finger sy...	OMIM:607932
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Arachnodactyly, Bifid uvula, Syndactyly, Adducted thumb, Long toe, Aganglionic m...	ORPHA:261537
Wiedemann-Rautenstrauch Syndrome	Thin vermilion border, Macrocephaly, Delayed eruption of teeth, Hypodontia, Dandy-Walker malforma...	OMIM:264090
Genitourinary And/Or Brain Malformation Syndrome	Secondary microcephaly, Short nose, Dysplastic corpus callosum, Macrocephaly, Ileal atresia, Poly...	OMIM:618820
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Wormian bones, Tibial bowing, Multiple prenatal fractures, Limb ...	OMIM:166210
Multiple Osteochondromas	Intestinal obstruction, Cervical myelopathy, Limitation of knee mobility, Abnormal femur morpholo...	ORPHA:321
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Hardikar Syndrome	Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilateral cleft pala...	OMIM:301068
Mucopolysaccharidosis, Type Iva	Grayish enamel, Widely spaced teeth, Mandibular prognathia, Carious teeth, Wide mouth, Recurrent ...	OMIM:253000
Specc1L-Related Hypertelorism Syndrome	Short nose, Advanced eruption of teeth, Orofacial cleft, Thin vermilion border, Everted lower lip...	ORPHA:1519
Melioidosis	Parotitis, Abnormal parotid gland morphology	ORPHA:31202
Glucagonoma	Stomatitis, Hypercalcemia, Glossitis	ORPHA:97280
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, High palate, Wide mouth, Convex nasal ridge, Depressed nasal bridge	OMIM:300661
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
Joubert Syndrome 1	Macrocephaly, Cerebellar vermis hypoplasia, Anteverted nares, Postaxial hand polydactyly, Protrud...	OMIM:213300
Aplasia Of Lacrimal And Salivary Glands	Carious teeth, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Xerostomia	OMIM:180920
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Macrocephaly, Femoral bowing, Split hand, Bowing of the long bone...	ORPHA:1860
Khan-Khan-Katsanis Syndrome	Short nose, Triangular mouth, Cerebellar vermis hypoplasia, Microcephaly, Micrognathia, Tented up...	OMIM:618460
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hypoplasia of the corpus callosum, Megalencephaly, Rhizomelia, Macrocephaly, Femoral bowing, Tibi...	OMIM:616482
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short nose, Cleft soft palate, Optic nerve hypoplasia, Microcephaly, Intestinal malrotation, Down...	OMIM:619321
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Vipoma	Hypercalcemia, Hypokalemia	ORPHA:97282
Enamel-Renal Syndrome	Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno...	ORPHA:1031
Psoriasis 14, Pustular	Polyarticular arthritis, Geographic tongue, Furrowed tongue, Oligoarthritis	OMIM:614204
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia, Thin upper lip vermilion, Short philtrum	OMIM:607143
Cantú Syndrome	Macrocephaly, Anteverted nares, Wide mouth, Thick vermilion border, Long philtrum, Wide nasal bridge	ORPHA:1517
Bilateral Perisylvian Polymicrogyria	Choanal atresia, Protruding tongue, Micrognathia, Flexion contracture, Distal arthrogryposis	ORPHA:98889
Opsismodysplasia	Short nose, Macrocephaly, Depressed nasal bridge	ORPHA:2746
Ablepharon-Macrostomia Syndrome	Clinodactyly of the 5th finger, Aplastic zygomatic arch, Hypoplastic nipples, Short metacarpal, S...	OMIM:200110
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Death in childhood, Clubbing, Split hand, Cleft upper lip, Cleft palate	OMIM:600460
Thoracoabdominal Syndrome	Cleft upper lip, Cleft palate, Cystic hygroma, Anencephaly	OMIM:313850
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy...	ORPHA:94093
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Hypocalcemia, High palate, Unconjugated hyperb...	OMIM:613658
Acromesomelic Dysplasia 1	Hypoplasia of the radius, Short nose, Broad finger, Short metatarsal, Cone-shaped epiphyses of th...	OMIM:602875
Developmental And Epileptic Encephalopathy 31B	Secondary microcephaly, Thin corpus callosum, Gingival overgrowth, Reduced cerebral white matter ...	OMIM:620352
Warsaw Breakage Syndrome	Microcephaly, High palate, Wide mouth	OMIM:613398
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Steatorrhea, Fat malabsorption	OMIM:607765
Mowat-Wilson Syndrome	Dental crowding, Everted lower lip vermilion, Bifid uvula, Syndactyly, Adducted thumb, Long toe, ...	ORPHA:2152
Nivelon-Nivelon-Mabille Syndrome	Thin corpus callosum, Cerebellar vermis hypoplasia, Short metacarpal, Micromelia, Microcephaly, S...	OMIM:600092
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Scheie Syndrome	Rhinitis, Thick vermilion border, Wide mouth, Everted lower lip vermilion	ORPHA:93474
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Bifid Uvula	Cleft lip, Bifid uvula, Submucous cleft soft palate	ORPHA:99771
Opsismodysplasia	Short nose, Macrocephaly, Anteverted nares, Long philtrum, Depressed nasal bridge	OMIM:258480
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Abnormal jaw morphology, Arachnodactyly, Bifid uvula, Syndactyly, Adducted thumb...	ORPHA:261552
Arterial Tortuosity Syndrome	Short nose, Macrocephaly, Abnormal zygomatic bone morphology, Esophagitis, Median cleft palate, P...	ORPHA:3342
Melkersson-Rosenthal Syndrome	Cheilitis, Macroglossia, Furrowed tongue	ORPHA:2483
Ppoma	Hypercalcemia	ORPHA:97278
Wiedemann-Steiner Syndrome	Short nose, Abnormal corpus callosum morphology, High palate, Microcephaly, Long philtrum, Wide n...	ORPHA:319182
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Steatorrhea, Fat malabsorption	ORPHA:79303
Intellectual Developmental Disorder, Autosomal Dominant 68	Retrognathia, High palate, Microcephaly, Wide mouth, Bulbous nose	OMIM:619934
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova...	ORPHA:2298
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Stillbirth, Short nose, High, narrow palate, Narrow mouth, Choanal atresia, Choanal stenosis, Bul...	ORPHA:95699
Ogden Syndrome	Everted upper lip vermilion, Bifid nasal tip, Microcephaly, Long philtrum, Narrow palate, Short p...	OMIM:300855
Okamoto Syndrome	Hypoplasia of the corpus callosum, Short nose, Anal stenosis, Anteverted nares, Underdeveloped na...	ORPHA:2729
Brown-Vialetto-Van Laere Syndrome 1	Death in childhood, Tongue fasciculations, Scoliosis, Kyphosis, Ankle clonus, Tongue atrophy	OMIM:211530
Cholera	Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia	ORPHA:173
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Widely spaced teeth, Narrow mouth, Thick vermilion border, Microdontia	ORPHA:324540
Amed Syndrome, Digenic	Bone marrow hypocellularity, Hypoplasia of the uterus	OMIM:619151
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Umbilical hernia, Polydactyly affe...	ORPHA:672
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Short nose, Macrocephaly, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Prominent nasal t...	OMIM:620330
Somatostatinoma	Hypercalcemia	ORPHA:97283
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Anterior tibial bowing, Dislocated radial head, Absent tibia...	OMIM:605274
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Hypoplasia of the corpus callosum, Low hanging columella, Microcephaly, Wide mouth, Agenesis of c...	OMIM:617260
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Abnormality of the sphenoid sinus, Sialadenitis, Sinusitis, Colon cance...	ORPHA:449563
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Wide nose, Short lingual frenulum, High palate, Midline nasal groove, Asymmetry of the nares, Wid...	ORPHA:1521
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Grfoma	Hypercalcemia	ORPHA:97261
Geleophysic Dysplasia 2	Long philtrum, Short nose, Thin upper lip vermilion, Smooth philtrum	OMIM:614185
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Transaldolase Deficiency	Thin vermilion border, Short philtrum, Wide mouth, Deep philtrum, Depressed nasal bridge	OMIM:606003
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Sotos Syndrome	Ankle flexion contracture, Craniosynostosis, Joint hypermobility, Bilateral camptodactyly, Abnorm...	ORPHA:821
Scleromyxedema	Narrow mouth	ORPHA:167635
Multiple Epiphyseal Dysplasia Type 5	Avascular necrosis of the capital femoral epiphysis, Genu valgum, Intervertebral disk degeneratio...	ORPHA:93311
Coxoauricular Syndrome	Abnormal femur morphology, Micromelia	ORPHA:1508
Jacobsen Syndrome	Cerebral atrophy, Short nose, Abnormal palate morphology, Macrocephaly, Anteverted nares, Ectopic...	ORPHA:2308
Oculocerebrocutaneous Syndrome	Tessier cleft, Orofacial cleft, Dandy-Walker malformation, Polymicrogyria, Wide mouth, Cerebellar...	ORPHA:1647
Walker-Warburg Syndrome	Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:899
Down Syndrome	Redundant neck skin, Aganglionic megacolon, Sandal gap, Short middle phalanx of the 5th finger, A...	OMIM:190685
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ...	ORPHA:37042
Spinocerebellar Ataxia 36	Tongue fasciculations, Tongue atrophy	OMIM:614153
Loeys-Dietz Syndrome 3	Retrognathia, Arachnodactyly, Bifid uvula, Umbilical hernia, Joint hypermobility, Craniosynostosi...	OMIM:613795
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Holoprosencephaly 14	Proboscis, Anteverted nares, Cleft palate, Cleft lip, Median cleft upper lip	OMIM:619895
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary	ORPHA:3109
Schinzel-Giedion Syndrome	Hypoplasia of the corpus callosum, Short nose, Retrognathia, Aganglionic megacolon, Short philtru...	ORPHA:798
Sarcoidosis	Bone cyst, Parotitis, Hypercalcemia, Enlargement of parotid gland	ORPHA:797
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Micromelia, Microcephaly, Short phalanx of finger, Cerebral hypoplasia	ORPHA:1422
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Tongue atrophy	ORPHA:276198
Geleophysic Dysplasia 1	Short nose, Anteverted nares, Wide mouth, Smooth philtrum, Long philtrum, Wide nasal bridge, Thin...	OMIM:231050
Hereditary Folate Malabsorption	Glossitis, Cerebral calcification, Cheilitis	ORPHA:90045
Acrodermatitis Enteropathica	Cheilitis, Glossitis, Furrowed tongue, Cerebral cortical atrophy, Abnormality of the tongue	ORPHA:37
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Bilateral Polymicrogyria	Macrocephaly, Aplasia/Hypoplasia of the cerebral white matter, Aplasia/Hypoplasia of the brainste...	ORPHA:268940
Hartnup Disease	Glossitis, Gingivitis	ORPHA:2116
Aspartylglucosaminuria	Short nose, Gingival overgrowth, Mandibular prognathia, Abnormality of the dentition, Carious tee...	ORPHA:93
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Cerebral atrophy, Thin corpus callosum, Widely spaced teeth, Thick lower lip vermilion, Short phi...	OMIM:280000
Toriello-Lacassie-Droste Syndrome	Short nose, Macrocephaly, Aganglionic megacolon, Anteverted nares, Agenesis of corpus callosum, A...	ORPHA:3339
Perrault Syndrome 4	Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus	OMIM:615300
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis	OMIM:277450
Cystinosis	Rickets	ORPHA:213
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Wide mouth	OMIM:616083
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Becker Nevus Syndrome	Abnormal tibia morphology, Supernumerary nipple, Micromelia	ORPHA:64755
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Femoral bowing, Metaphyseal spurs, Micromelia, Metaphyseal widening, Bowing of the legs	OMIM:608728
Trichohepatoneurodevelopmental Syndrome	Cerebral atrophy, Steatorrhea, Thin corpus callosum, Widely spaced teeth, Dental crowding, High p...	OMIM:618268
Sillence Syndrome	Short finger, Chess-pawn distal phalanges, Abnormal vertebral morphology, Large tarsal bones, Abn...	ORPHA:3168
Osteogenesis Imperfecta	Intestinal obstruction, Abnormal femur morphology, Dislocated radial head, Relative macrocephaly,...	ORPHA:666
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina	OMIM:146255
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Glossitis, Stomatitis, High palate, Tracheoesophageal fistula, Thin upper lip vermilion, Talipes ...	OMIM:277380
Pallister-Killian Syndrome	Kyphoscoliosis, Everted lower lip vermilion, Intestinal malrotation, Bifid uvula, Wide mouth, Umb...	OMIM:601803
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Lymph node hypoplasia	ORPHA:276
1P36 Deletion Syndrome	Abnormal intestine morphology, Narrow mouth, Depressed nasal ridge, Cerebral cortical atrophy, Mi...	ORPHA:1606
Sarcoidosis, Susceptibility To, 1	Clubbing, Enlarged lacrimal glands, Abnormal salivary gland morphology, Inflammation of the large...	OMIM:181000
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Yunis-Varon Syndrome	Absent sternal ossification, Broad alveolar ridges, Microcephaly, Hypoplastic facial bones, Absen...	OMIM:216340
Coach Syndrome 1	Cerebellar vermis hypoplasia, Anteverted nares, Esophageal varix, Wide mouth, Aplasia/Hypoplasia ...	OMIM:216360
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Knee flexion contracture, Elbow flexion contracture, Furrowed tongue, Microdontia, Oral leukoplakia	OMIM:148210
Schinzel-Giedion Midface Retraction Syndrome	Cerebral atrophy, Short nose, Hypoplasia of the corpus callosum, Anteverted nares, Abnormal nasop...	OMIM:269150
Noonan Syndrome 14	High, narrow palate, Prominent nasal bridge, Wide mouth, Thick vermilion border, Long philtrum, P...	OMIM:619745
Juvenile Polyposis Syndrome	Macrocephaly, Protein-losing enteropathy, Stomach cancer, Hamartomatous stomach polyps, Rectal po...	ORPHA:2929
Systemic Sclerosis	Narrow mouth, Barrett esophagus, Abnormal esophagus morphology, Abnormal large intestine morpholo...	ORPHA:90291
Juvenile Sialidosis Type 2	Umbilical hernia, Abnormal form of the vertebral bodies, Gingival overgrowth, Protruding tongue	ORPHA:93399
Fanconi-Bickel Syndrome	Rickets, Bowing of the long bones, Osteopenia	ORPHA:2088
Adams-Oliver Syndrome 1	Encephalocele, Cleft upper lip, Cleft palate, Brachydactyly, Toe syndactyly, Talipes equinovarus	OMIM:100300
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon...	ORPHA:432
Congenital Sialidosis Type 2	Polydactyly, Gingival overgrowth, Macrocephaly, Protruding tongue	ORPHA:93400
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Microcephaly, Hand clenching, Thin corpus callosum, Protruding tongue	OMIM:619580
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Atypical Werner Syndrome	Neoplasm of the oral cavity, Thin vermilion border, Rocker bottom foot, Reduced bone mineral dens...	ORPHA:79474
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Cleft palate, Glossitis	ORPHA:79284
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Talipes valgus, Flexion contracture, Ankle clonus, Submucous cleft hard palate, Narrow nose	OMIM:618891
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Short nose, Anteverted nares, High palate, Microcephaly, Carious teeth, Downturned cor...	OMIM:619522
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Short nose, Prominent nasal tip, Smooth philtrum, Thin upper lip vermilion	ORPHA:522077
Mucopolysaccharidosis, Type Iiid	Macrocephaly, Thick lower lip vermilion, Broad alveolar ridges, Anteverted nares, Wide mouth, Thi...	OMIM:252940
Cowden Syndrome	Colorectal polyposis, Bone cyst, Scoliosis, High palate, Furrowed tongue, Kyphosis, Hamartomatous...	ORPHA:201
Giant Cell Arteritis	Recurrent pharyngitis, Glossitis, Arthritis, Joint stiffness, Epistaxis	ORPHA:397
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short philtrum, Hypocalcemia, Hyperextensibility of the finger joints, Hyperbilirubinemia, Cleft ...	ORPHA:163979
Charcot-Marie-Tooth Disease Type 1F	Scoliosis, Flexion contracture of finger, Tongue atrophy	ORPHA:101085
Cardiofaciocutaneous Syndrome 3	Wide mouth	OMIM:615279
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Intellectual Developmental Disorder, Autosomal Dominant 53	Macrocephaly, Microcephaly, Intestinal malrotation, Wide mouth, Hyperintensity of cerebral white ...	OMIM:617798
Kikuchi-Fujimoto Disease	Oral ulcer, Enlargement of parotid gland	ORPHA:50918
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Microcephaly, Narrow mouth, Prominent nose	OMIM:614748
Noonan Syndrome 3	Short nose, Anteverted nares, High palate, Hypoplastic nasal bridge	OMIM:609942
Igg4-Related Kidney Disease	Sialadenitis, Abnormality of the anterior pituitary, Chronic sinusitis	ORPHA:449395
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany	ORPHA:73224
X-Linked Intellectual Disability, Nascimento Type	Thin vermilion border, Macrocephaly, Low hanging columella, Underdeveloped nasal alae, Hypointens...	ORPHA:163956
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, High, narrow palate, Widely spaced...	ORPHA:466791
Mowat-Wilson Syndrome	Aganglionic megacolon, Widely spaced teeth, Delayed eruption of teeth, Tooth malposition, Low han...	OMIM:235730
Peroxisome Biogenesis Disorder 4B	Short nose, Macrocephaly	OMIM:614863
Purine Nucleoside Phosphorylase Deficiency	Lymph node hypoplasia, Splenomegaly	OMIM:613179
Charcot-Marie-Tooth Disease Type 4B2	Kyphoscoliosis, Scoliosis, Difficulty in tongue movements, Tongue atrophy	ORPHA:99956
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Steatorrhea, Osteoporosis, Osteomalacia, Colitis	ORPHA:309031
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Narrow mouth	OMIM:616539
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Lynch Syndrome	Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the pancreas, Intestinal polyposis, Ovaria...	ORPHA:144
Noonan Syndrome 2	Anteverted nares, Relative macrocephaly, High palate, Micrognathia, Wide mouth, Long philtrum, Wi...	OMIM:605275
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Coffin-Siris Syndrome 1	Duodenal ulcer, Retrognathia, Microdontia, Microcephaly, Intestinal malrotation, Wide mouth, Long...	OMIM:135900
Blau Syndrome	Camptodactyly of finger, Abnormal salivary gland morphology, Xerostomia	ORPHA:90340
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Short nose, High, narrow palate, Macrocephaly, Short uvula, Short philtrum, Anteverted nares, Hig...	OMIM:619475
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures, Cleft palate	ORPHA:2237
Amyotrophic Lateral Sclerosis	Xerostomia, Tongue atrophy	ORPHA:803
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Pachyonychia Congenita 3	Furrowed tongue, Gingivitis, Chapped lip, Oral leukoplakia	OMIM:615726
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short nose, Cerebral calcification, Macroglossia, Thick vermilion border	ORPHA:505248
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus	OMIM:615363
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Lipodystrophy, Familial Partial, Type 7	Short nose, Narrow nasal ridge, Narrow mouth	OMIM:606721
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Downturned corners of mouth, Broad nasal tip, Wide mouth, Bulbous nose, Wide nasal bridge, Depres...	ORPHA:466943
Holoprosencephaly 1	Tessier cleft, Proboscis, Median cleft palate, Median cleft upper lip, Aplasia of the nose	OMIM:236100
Acrocephalopolydactylous Dysplasia	Short nose, Hypoplasia of the small intestine, Postaxial hand polydactyly, Micromelia, Hypoplasti...	OMIM:200995
Charcot-Marie-Tooth Disease Type 4C	Difficulty in tongue movements, Hammertoe, Tongue fasciculations, Scoliosis, Tongue atrophy	ORPHA:99949
Mucolipidosis Ii Alpha/Beta	Thin corpus callosum, Anteverted nares, Gingival overgrowth, Cerebral cortical atrophy, Micrognat...	OMIM:252500
Digeorge Syndrome	High, narrow palate, Short philtrum, Intervertebral disk degeneration, Scoliosis, High palate, Mi...	OMIM:188400
Pearson Syndrome	Hypokalemia, Hypocalcemia, Hyperalaninemia, Median cleft palate, Hypomagnesemia, Hypophosphatemia	ORPHA:699
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth	OMIM:251800
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Agammaglobulinemia, X-Linked	Prostatitis, Lymph node hypoplasia, Epididymitis	OMIM:300755
Vascular Ehlers-Danlos Syndrome	Thin vermilion border, High, narrow palate, Periodontitis, Narrow nasal bridge, Gingival overgrow...	ORPHA:286
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Villous atrophy, Gastritis, Anoperineal fistula, Arthritis, Oral ulcer, Joint swe...	OMIM:619381
Diets-Jongmans Syndrome	Low hanging columella, Broad nasal tip, Wide mouth, Thick corpus callosum, Thin upper lip vermili...	OMIM:618846
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Furrowed tongue, Erythematous oral mucosa	OMIM:158310
Wilson Disease	Hyposmia, Osteomalacia, Esophageal varix, Osteoporosis, Osteoarthritis, Joint hypermobility, Chon...	OMIM:277900
Infection-Related Hemolytic Uremic Syndrome	Septic arthritis, Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Liver Disease, Severe Congenital	Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Micrognathia, H...	OMIM:619991
Floating-Harbor Syndrome	Short philtrum, Low hanging columella, Microdontia, Prominent nose, Carious teeth, Downturned cor...	OMIM:136140
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Gitelman Syndrome	Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Gout	ORPHA:358
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia	ORPHA:466650
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Periventricular leukomalacia, Congenital finger flexion contractures, Microcephaly, Flexion contr...	ORPHA:466768
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Cerebral atrophy, Periventricular white matter hyperintensities, Stomatitis, Glossitis, Microceph...	ORPHA:79282
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext...	ORPHA:90794
Mosaic Trisomy 16	Abnormality of the nose, Meckel diverticulum, Wide mouth, Craniofacial asymmetry, Anteriorly plac...	ORPHA:1708
Distal Renal Tubular Acidosis	Rickets, Osteomalacia, Reduced bone mineral density, Increased susceptibility to fractures	ORPHA:18
Aspartylglucosaminuria	Cerebral atrophy, Thick lower lip vermilion, Anteverted nares, Hypoplastic frontal sinuses, Micro...	OMIM:208400
Microsporidiosis	Sinusitis, Rhinitis, Glossitis, Osteomyelitis	ORPHA:2552
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Agel Amyloidosis	Xerostomia, Tongue atrophy	ORPHA:85448
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Microphthalmia, Syndromic 9	Multilobulated spleen, Bicornuate uterus, Hypoplastic spleen, Cryptorchidism, Hypoplasia of the u...	OMIM:601186
Estrogen Resistance Syndrome	Hypoplasia of the uterus, Enlarged polycystic ovaries	ORPHA:785
Kawasaki Disease	Cheilitis, Recurrent pharyngitis, Glossitis, Arthritis, Strawberry tongue, Lip fissure	ORPHA:2331
Choreoacanthocytosis	Arthritis, Temporomandibular joint crepitus, Protruding tongue	ORPHA:2388
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum, Unilateral crypt...	OMIM:618280
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Hypocalcemic tetany	ORPHA:83471
Slc39A8-Cdg	Cerebral cortical atrophy, Limb undergrowth, Cutaneous syndactyly of toes	ORPHA:468699
Carney Complex	Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hor...	ORPHA:1359
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Accessory spleen, Clitoral hypoplasia, Hypoplasia of the uterus, Hypoplastic ...	OMIM:618419
Chromosome 17Q12 Deletion Syndrome	Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism	OMIM:614527
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Cystinosis, Nephropathic	Rickets, Hypophosphatemic rickets, Genu valgum, Metaphyseal widening	OMIM:219800
Woodhouse-Sakati Syndrome	Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr...	OMIM:241080
Johanson-Blizzard Syndrome	Hypoplasia of the primary teeth, Hypocalcemia, Increased VLDL cholesterol concentration, Downturn...	OMIM:243800
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus	OMIM:309801
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Cardiospondylocarpofacial Syndrome	Hypoplastic nasal tip, Anteverted nares, Wide mouth, Long philtrum, Bulbous nose, Wide nasal bridge	OMIM:157800
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t...	ORPHA:3464
Primary Fanconi Renotubular Syndrome	Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures	ORPHA:3337
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy...	ORPHA:322
Penile Agenesis	Short nose, Rectal fistula, Anal atresia, Tracheoesophageal fistula, Depressed nasal bridge	ORPHA:49
Plague	Abnormality of the elbow, Glossitis, Arthritis, Enterocolitis, Inflammation of the large intestin...	ORPHA:707
Arima Syndrome	Cerebellar vermis hypoplasia, Esophageal varix, Agenesis of cerebellar vermis, Wide mouth, Hypopl...	OMIM:243910
Generalized Arterial Calcification Of Infancy	Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal...	ORPHA:51608
Renal Cysts And Diabetes Syndrome	Hypospadias, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus	OMIM:137920
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus	OMIM:110100
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl...	OMIM:201750
Ehlers-Danlos Syndrome, Vascular Type	Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture	OMIM:130050
Pmm2-Cdg	Retrognathia, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Anteverted nares, Mandibul...	ORPHA:79318
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism	OMIM:276820
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi...	OMIM:107480
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	ORPHA:572333
Norrie Disease	Uterine rupture, Cryptorchidism	ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Satb2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Satb2.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Astrocyte layers in the mammalian cerebral cortex revealed by a single-cell in situ transcriptomic map.	Nature neuroscience (March 2020)	Satb2^{tm1c(KOMP)Wtsi}	32203496
Satb2 is required for the regionalization of retrosplenial cortex.	Cell death and differentiation (October 2019)	Satb2^{tm1c(KOMP)Wtsi} Satb2^{tm1a(KOMP)Wtsi}	PMC7206047
Loss of Satb2 in the Cortex and Hippocampus Leads to Abnormal Behaviors in Mice.	Frontiers in molecular neuroscience (February 2019)	Satb2^{tm1c(KOMP)Wtsi}	PMC6380165
Genes encoding SATB2-interacting proteins in adult cerebral cortex contribute to human cognitive ability.	PLoS genetics (February 2019)	Satb2^{tm1c(KOMP)Wtsi}	PMC6364870
Satb2 ablation decreases PTZ-induced seizure susceptibility and pyramidal neuronal excitability.	Brain research (May 2018)	Satb2^{tm1c(KOMP)Wtsi}	29750936
Satb2 Ablation Impairs Hippocampus-Based Long-Term Spatial Memory and Short-Term Working Memory and Immediate Early Genes (IEGs)-Mediated Hippocampal Synaptic Plasticity.	Molecular neurobiology (April 2017)	Satb2^{tm1c(KOMP)Wtsi} Satb2^{tm1a(KOMP)Wtsi}	28421537
Satb2 determines miRNA expression and long-term memory in the adult central nervous system.	eLife (November 2016)	Satb2^{tm1c(KOMP)Wtsi} Satb2^{tm1a(KOMP)Wtsi}	PMC5207769
Mutual regulation between Satb2 and Fezf2 promotes subcerebral projection neuron identity in the developing cerebral cortex.	Proceedings of the National Academy of Sciences of the United States of America (August 2015)	Satb2^{tm1c(KOMP)Wtsi} Satb2^{tm1a(KOMP)Wtsi}	PMC4577201

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Satb2^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Satb2^{tm41799(L1L2_gt1_Del_LacZ)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Satb2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Satb2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Satb2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Satb2^em3(IMPC)Tcp	Indel	Mice, Tissue
Satb2^em2(IMPC)Mbp	Indel	Mice
Satb2^{tm41799(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Satb2 MGI:2679336

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

X-ray

Gross Pathology and Tissue Collection

Eye Morphology

X-ray

MicroCT E14.5-E15.5

X-ray

Histopathology

Eye Morphology

Human diseases caused by Satb2 mutations

Histopathology

IMPC related publications

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