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Gene: Foxn3 MGI:1918625

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Gene Summary

Name:
forkhead box N3
Synonyms:
5430426H20Rik,  Ches1,  Ches1l,  HTLFL1

Order Alleles

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 System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Foxn3em1(IMPC)Bay HET   Early adult 7.18×10-07
preweaning lethality, complete penetrance Foxn3em1(IMPC)Bay HOM   Early adult 0.00

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Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of right eye

16 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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MicroCT E18.5

Embryo reconstruction

7 Images

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Human diseases caused by Foxn3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Foxn3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Florid Cemento-Osseous Dysplasia
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... ORPHA:83451
Larsen-Like Syndrome
Macrocephaly, Malar flattening, Wide anterior fontanel, Short stature, Cleft palate, Dental maloc... OMIM:608545
Cleft Palate, Isolated
Cleft palate, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Increased overbite OMIM:119540
Auriculocondylar Syndrome 2
Macrocephaly, Temporomandibular joint ankylosis, Short mandibular rami, Cleft palate, Dental crow... OMIM:614669
Mcdonough Syndrome
Scoliosis, Abnormal palate morphology, Mandibular prognathia, Cachexia, Short stature, Kyphosis, ... ORPHA:2471
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia, Cleft palate, Microcephaly, Cerebellar hypoplasi... OMIM:616570
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Mandibular prognathia, Relative macrocephaly, Dental malocclusion, Mild short stature OMIM:618292
Potocki-Lupski Syndrome
Small for gestational age, High palate, Scoliosis, Mandibular prognathia, Short stature, Failure ... OMIM:610883
Alpha-Mannosidosis
Macroglossia, Craniofacial hyperostosis, Macrocephaly, Scoliosis, Short neck, Widely spaced teeth... ORPHA:61
Primary Condylar Hyperplasia
Macrodontia, Abnormality of the temporomandibular joint, Abnormal mandible condylar process morph... ORPHA:477781
Rubinstein-Taybi Syndrome 2
High palate, Retrognathia, Talon cusp, Short stature, Dental malocclusion, Narrow palate, Carious... OMIM:613684
Craniosynostosis 3
Bicoronal synostosis, Left unicoronal synostosis, Right unicoronal synostosis, Partial agenesis o... OMIM:615314
Hemifacial Atrophy, Progressive
Short mandibular rami, Kyphosis, Tongue atrophy, Dental malocclusion, Delayed eruption of teeth OMIM:141300
Amelogenesis Imperfecta
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... ORPHA:88661
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Abnormality of the dentition, Mandibular prognathia, Short stature, Kyphosis, Dental m... ORPHA:1858
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Microcephaly, Short stature, Kyphoscoliosis OMIM:615541
Pycnodysostosis
Spondylolysis, Scoliosis, Osteolytic defects of the distal phalanges of the hand, Rhizomelia, Spo... ORPHA:763
Oligodontia
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... ORPHA:99798
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Periventricular white matter hyperintensities, Scoliosis, Lumbar hyperlo... OMIM:619719
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, High palate, Bifid uvula, Irregular vertebral endplates, Short stature, ... OMIM:612350
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Retrognathia, Short stature, Microphthalmia, Narrow mouth, Microcephaly, Growth delay ORPHA:2528
Van Maldergem Syndrome 1
Scoliosis, Hypoplasia of the corpus callosum, Subcortical band heterotopia, Camptodactyly, Irregu... OMIM:601390
Cleft Lip/Palate
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Peg-... ORPHA:199306
Auriculocondylar Syndrome 1
Macrocephaly, Ankylosis, Cleft palate, Dental crowding, Anterior open-bite malocclusion, Mandibul... OMIM:602483
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, Camptodactyly of finger, High palate, Mandibular prognathia, Intr... ORPHA:1327
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, Joint laxity, High, narrow palate OMIM:619692
Seckel Syndrome 1
High palate, Scoliosis, Selective tooth agenesis, Abnormally large globe, Intrauterine growth ret... OMIM:210600
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Partial agenesis of the corpus callosum, Lumbar scoliosis, Hypoplasia of the po... OMIM:616171
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Vertebral clefting, Patchy distortion of vertebrae OMIM:155050
Three M Syndrome 2
Small for gestational age, High palate, Lumbar hyperlordosis, Severe short stature, Short neck, M... OMIM:612921
Filippi Syndrome
Serrated incisors, Intrauterine growth retardation, Abnormality of dental morphology, Microdontia... OMIM:272440
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Dental malocclusion, Mandibular prognathia, High palate OMIM:608931
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Scoliosis, Progressive microcephaly, Deep philtrum, Osteopenia, Failure to thrive, D... ORPHA:329178
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Harrod Syndrome
High palate, Scoliosis, Intrauterine growth retardation, Kyphosis, Failure to thrive, Narrow mout... ORPHA:2115
Fanconi Anemia, Complementation Group S
Short stature, Microphthalmia, Failure to thrive, Macrodontia, Dental malocclusion, Narrow palate... OMIM:617883
Clark-Baraitser syndrome
Macrocephaly, Scoliosis, Kyphosis, Prominent median palatal raphe, Joint laxity, Exaggerated medi... OMIM:300602
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Dental malocclusio... OMIM:144750
Marden-Walker Syndrome
Scoliosis, Cleft palate, Narrow mouth, Microcephaly, Cerebellar hypoplasia, Joint contracture of ... OMIM:248700
Intermediate Osteopetrosis
Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormality of the dentition... ORPHA:210110
Cofs Syndrome
Camptodactyly of finger, Joint stiffness, Short neck, Intrauterine growth retardation, Short stat... ORPHA:1466
Mulibrey Nanism
Hypoplastic frontal sinuses, Intrauterine growth retardation, Enamel hypoplasia, Short stature, A... OMIM:253250
Warburg Micro Syndrome 1
Cerebral atrophy, Osteoporosis, Perisylvian polymicrogyria, Short stature, Microphthalmia, Failur... OMIM:600118
Momo Syndrome
Macrocephaly, High palate, Large for gestational age, Bilateral microphthalmos, Short neck, Tauro... ORPHA:2563
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Dental malocclusion, Widely spaced teeth, Short stature OMIM:616108
Intellectual Disability, Buenos-Aires Type
Biparietal narrowing, Reduced bone mineral density, High palate, Mandibular prognathia, Abnormali... ORPHA:3079
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, High palate, Thoracic kyphosis, Short neck, Ovoid vertebral bodie... ORPHA:163649
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Van Maldergem Syndrome 2
Tracheomalacia, High palate, Scoliosis, Irregular dentition, Anteriorly placed anus, Malar flatte... OMIM:615546
Acrootoocular Syndrome
Grayish enamel, Small for gestational age, Anodontia, Short stature, Failure to thrive, High, nar... ORPHA:2980
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Small for gestational age, Short neck, Microphthalmia, Failure to thrive... ORPHA:1617
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Deep philtrum, Osteoarthritis, Osteopenia, Ivory epiphyses of the distal phalanges of ... OMIM:190350
Myopathy, Myofibrillar, 8
High palate, Scoliosis, Distal joint laxity, Joint contracture of the 5th finger, Spinal rigidity... OMIM:617258
Cohen Syndrome
Delayed puberty, Small for gestational age, Open mouth, Lumbar hyperlordosis, Childhood-onset tru... OMIM:216550
Frank-Ter Haar Syndrome
Camptodactyly, High palate, Abnormally large globe, Prominent coccyx, Wide anterior fontanel, Ost... OMIM:249420
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Short stature, Cleft palate, Narrow mouth, Long philtrum, Incisor macrodontia, Mic... OMIM:615502
Pierpont Syndrome
Abnormal cortical gyration, Small for gestational age, Scoliosis, Primary microcephaly, Short nec... ORPHA:487825
Craniometadiaphyseal Dysplasia
Absent paranasal sinuses, Macrocephaly, High palate, Scoliosis, Abnormally large globe, Malar fla... OMIM:269300
Muenke Syndrome
Macrocephaly, Coronal craniosynostosis, High palate, Malar flattening, Dental malocclusion, Capit... OMIM:602849
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Diastema, Short neck, Malar flattening, Short stature, Dental malocclusion, Micrognathia ORPHA:436245
Shprintzen-Goldberg Craniosynostosis Syndrome
Craniosynostosis, Camptodactyly, High palate, Scoliosis, Wide anterior fontanel, C1-C2 vertebral ... OMIM:182212
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... OMIM:125500
Oculodentodigital Dysplasia, Autosomal Recessive
Hypoplasia of teeth, Short stature, Microphthalmia, Failure to thrive, Dental crowding, Hypoplasi... OMIM:257850
Robinow Syndrome, Autosomal Dominant 2
Macrocephaly, Camptodactyly, Oligodontia, Abnormality of the dentition, Calvarial osteosclerosis,... OMIM:616331
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Joint stiffness, Ovoid vertebral bodies, Rhizomelia, Severe platyspondyly, Platyspondy... OMIM:608940
Dental Anomalies And Short Stature
Herniation of intervertebral nuclei, Oligodontia, Scoliosis, Widely spaced teeth, Amelogenesis im... OMIM:601216
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Scoliosis, Osteoporosis, Malar prominence, Intrauterine growth retardati... ORPHA:48431
Intellectual Disability, Birk-Barel Type
Open mouth, Broad philtrum, Sacral dimple, High, narrow palate, Tented upper lip vermilion, Foot ... ORPHA:166108
Cerebrooculofacioskeletal Syndrome 1
Thin vermilion border, Carious teeth, Microcephaly, Cerebellar hypoplasia, Kyphoscoliosis, Joint ... OMIM:214150
Progeria-Short Stature-Pigmented Nevi Syndrome
Generalized osteoporosis, Delayed puberty, Small for gestational age, Selective tooth agenesis, B... ORPHA:2959
Gombo Syndrome
Delayed puberty, Microcephaly, Microphthalmia OMIM:233270
Atkin-Flaitz Syndrome
Macrocephaly, Abnormality of the dentition, Short stature, Everted lower lip vermilion, Thick ver... ORPHA:1193
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Macrocephaly, Generalized joint laxity, Agenesis of permanent teeth, Cleft palate, Narrow mouth, ... ORPHA:251028
Pierpont Syndrome
Scoliosis, Short neck, Malar flattening, Widely spaced teeth, Broad philtrum, Short stature, Micr... OMIM:602342
Turnpenny-Fry Syndrome
Macrocephaly, Widely spaced teeth, Thoracic kyphoscoliosis, Narrow mouth, Microcephaly, Hypoplasi... OMIM:618371
Seckel Syndrome 2
Small for gestational age, Short stature, Microphthalmia, Micrognathia, Microdontia, Microglossia... OMIM:606744
Ritscher-Schinzel Syndrome 3
Poorly ossified vertebrae, Wide anterior fontanel, Relative macrocephaly, Microphthalmia, Epiphys... OMIM:619135
Mmep Syndrome
Mandibular prognathia, Microphthalmia, Microcephaly, Median cleft lip, Orofacial cleft ORPHA:3434
Momo Syndrome
Macrocephaly, High palate, Short neck, Taurodontia, Dental malocclusion, Long philtrum, Delayed e... OMIM:157980
Chromosome 16Q22 Deletion Syndrome
Small for gestational age, High palate, Short neck, Wide anterior fontanel, Micrognathia, Failure... OMIM:614541
Acrodysostosis 1 With Or Without Hormone Resistance
Calvarial hyperostosis, Small for gestational age, Neonatal epiphyseal stippling, Scoliosis, Hypo... OMIM:101800
Blepharophimosis-Impaired Intellectual Development Syndrome
Scoliosis, Thin corpus callosum, Hypoplasia of the pons, Widely spaced teeth, Enamel hypoplasia, ... OMIM:619293
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrocephaly, Open mouth, Scoliosis, Slender build, Short upper lip, Malar flattening, Mandibular... ORPHA:364028
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Selective tooth agenesis, Cl... OMIM:305620
Auriculocondylar Syndrome
Macrocephaly, Bifid uvula, Difficulty in tongue movements, Abnormality of the temporomandibular j... ORPHA:137888
Microphthalmia, Syndromic 12
Retrognathia, Microphthalmia, Neonatal death, Cleft palate, Micrognathia, Intestinal malrotation,... OMIM:615524
Cri-Du-Chat Syndrome
Small for gestational age, High palate, Scoliosis, Bifid uvula, Short neck, Anterior open-bite ma... OMIM:123450
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Large for gestational age, Microphthalmia ORPHA:2432
X-Linked Intellectual Disability, Sutherland-Haan Type
Small for gestational age, Anal atresia, Mandibular prognathia, Short stature, Microcephaly, Decr... ORPHA:93950
Hallermann-Streiff Syndrome
Scoliosis, Selective tooth agenesis, Narrow mouth, Narrow palate, Supernumerary tooth, Thin vermi... OMIM:234100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Cerebral atrophy, Global brain atrophy, Cleft lip, Wide anterior fontane... OMIM:616920
Kabuki Syndrome 2
High palate, Intrauterine growth retardation, Short stature, Cleft palate, Dental malocclusion, J... OMIM:300867
Zimmermann-Laband Syndrome
Macroglossia, High palate, Bifid uvula, Short neck, Gingival fibromatosis, Micrognathia, Cleft pa... ORPHA:3473
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion, Carious teet... OMIM:204700
Bartsocas-Papas Syndrome 2
Bilateral cleft lip and palate, Wide anterior fontanel, Accessory oral frenulum, Microphthalmia, ... OMIM:619339
Beaulieu-Boycott-Innes Syndrome
Micrognathia, Dental malocclusion, Velopharyngeal insufficiency, Microcephaly, Carious teeth OMIM:613680
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Macrocephaly, High palate, Scoliosis, Slender build, Mandibular prognathia, Kyphosis, Hypoplasia ... OMIM:300676
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Short stature, Osteopenia, Everted lower lip vermilion, Dental crowding, Spondylolis... OMIM:617877
Cerebellar-Facial-Dental Syndrome
Inferior cerebellar vermis hypoplasia, Scoliosis, Severe short stature, Short neck, Hypoplasia of... ORPHA:444072
Lowry-Maclean Syndrome
Craniosynostosis, Midgut malrotation, Retrognathia, Pyloric stenosis, Osteoporosis, Talon cusp, I... ORPHA:2409
Microphthalmia, Syndromic 13
Widely-spaced incisors, Short stature, Microphthalmia, Microcephaly, Kyphoscoliosis OMIM:300915
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Oligodontia, Tooth malposition, Widely-spaced maxillary central ... ORPHA:363417
Microphthalmia, Syndromic 8
Mandibular prognathia, Microphthalmia, Cleft palate, Microcephaly, Cleft upper lip, Widely-spaced... OMIM:601349
Liang-Wang Syndrome
Macroglossia, Diastema, Cerebral atrophy, Everted lower lip vermilion, Downturned corners of mout... OMIM:618729
Otodental Syndrome
Lens coloboma, Abnormal dental pulp morphology, Agenesis of premolar, Taurodontia, Abnormality of... ORPHA:2791
Maxillonasal Dysplasia
Scoliosis, Tooth agenesis, Mandibular prognathia, Microdontia, Cleft palate, Vertebral clefting, ... ORPHA:1248
Regional Odontodysplasia
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... ORPHA:83450
Amelogenesis Imperfecta, Type Ic
Taurodontia, Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion,... OMIM:204650
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Short stature, Platyspondyly, Multiple small vertebral fractures, Thin v... OMIM:156510
Nestor-Guillermo Progeria Syndrome
Osteolysis, Scoliosis, Progressive clavicular acroosteolysis, Osteolytic defects of the distal ph... OMIM:614008
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Mild microcephaly, Camptodactyly, Abnormality of the dentition, Retrognathia, Anal atresia, Dyspl... ORPHA:363444
Oliver Syndrome
Camptodactyly of finger, High palate, Scoliosis, Mandibular prognathia, Knee flexion contracture,... ORPHA:2920
Baraitser-Winter Syndrome 2
Retrognathia, Secondary microcephaly, Short neck, Short stature, Microphthalmia, Long philtrum, P... OMIM:614583
Myopathy, Centronuclear, X-Linked
Macrocephaly, High palate, Pyloric stenosis, Dental malocclusion, Flexion contracture, Dandy-Walk... OMIM:310400
Osteopathia Striata With Cranial Sclerosis
Macrocephaly, Scoliosis, Bifid uvula, Cleft palate, Cleft upper lip, Joint contracture of the han... OMIM:300373
Schwartz-Jampel Syndrome
Scoliosis, Cachexia, Cleft palate, Spinal rigidity, Shoulder flexion contracture, Narrow mouth, S... ORPHA:800
Odontotrichoungual-Digital-Palmar Syndrome
Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border OMIM:601957
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Malar flattening, Short stature, Everted lower lip vermilion, Denta... ORPHA:85321
Hajdu-Cheney Syndrome
Pathologic fracture, Narrow mouth, Kyphoscoliosis, Premature loss of teeth, Cervical instability,... OMIM:102500
Monosomy 18P
Tooth malposition, Short neck, Short stature, Microphthalmia, Cleft palate, Downturned corners of... ORPHA:1598
Cardiofaciocutaneous Syndrome 1
Macrocephaly, Open mouth, Hypoplasia of the frontal lobes, Abnormality of the dentition, Thick ve... OMIM:115150
Lujan-Fryns Syndrome
Macrocephaly, Camptodactyly of finger, High palate, Abnormality of the dentition, Scoliosis, Dent... ORPHA:776
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Small for gestational age, Intrauterine growth retardation, Microphthalm... OMIM:610756
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Amelogenesis imperfecta, Yel... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Hypomature enamel, Yellow-brown discolo... OMIM:612529
Cleidocranial Dysplasia 2
Delayed ossification of carpal bones, Wide anterior fontanel, Osteopenia, Failure to thrive, Supe... OMIM:620099
Fetal Alcohol Syndrome
Biparietal narrowing, Joint stiffness, Intrauterine growth retardation, Short stature, Microphtha... ORPHA:1915
Short Syndrome
Small for gestational age, Intrauterine growth retardation, Birth length less than 3rd percentile... OMIM:269880
Holoprosencephaly 9
Abnormal cortical gyration, Bilateral cleft lip and palate, Partial agenesis of the corpus callos... OMIM:610829
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Microphthalmia, Failure to thrive, Microcephaly, Growth delay, Agenesis of corp... OMIM:274270
Cerebellofaciodental Syndrome
Scoliosis, Thin corpus callosum, Short neck, Hypoplasia of the pons, Taurodontia, Short stature, ... OMIM:616202
Dysostosis, Stanescu Type
Macroglossia, Increased bone mineral density, Abnormality of the dentition, Tooth agenesis, Abnor... ORPHA:1798
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Macrocephaly, Microcephaly, Notched primary central incisor, Short stature OMIM:620062
Van Der Woude Syndrome 2
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip OMIM:606713
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Polymicrogyria, Bilateral microphthalmos, Flexion contracture of toe, Ab... OMIM:610758
Developmental Delay With Variable Neurologic And Brain Abnormalities
Camptodactyly, Thin corpus callosum, Widely spaced teeth, Knee flexion contracture, Microdontia, ... OMIM:619694
Apert Syndrome
Bifid uvula, Cleft palate, Narrow palate, Cerebellar hypoplasia, Sagittal craniosynostosis, Coron... OMIM:101200
Sandestig-Stefanova Syndrome
Camptodactyly, Small for gestational age, Retrognathia, Primary microcephaly, High palate, Short ... OMIM:618804
Noonan Syndrome 4
Macrocephaly, Scoliosis, Short neck, Short stature, Dental malocclusion, Wide mouth, Thick vermil... OMIM:610733
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short neck, Rhizomelia, Microphthalmia, Platyspondyly, Downturned corners of mouth, Decreased sku... ORPHA:93267
Braddock-Carey Syndrome 2
Retrognathia, Microphthalmia, Cleft palate, Microcephaly, Pierre-Robin sequence, Wide mouth OMIM:619981
Robinow Syndrome, Autosomal Dominant 3
Macrocephaly, Camptodactyly, Scoliosis, Anteriorly placed anus, Agenesis of permanent teeth, Clef... OMIM:616894
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Abnormal dentin morphology, Anterior open-bite malocc... OMIM:301200
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia OMIM:251700
Cockayne Syndrome B
Carious teeth, Microcephaly, Small for gestational age, Severe short stature, Cerebral atrophy, O... OMIM:133540
Short Stature, Dauber-Argente Type
Reduced bone mineral density, Short stature, Osteopenia, Delayed eruption of teeth, Microcephaly,... OMIM:619489
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Scoliosis, Tooth agenesis, Bifid uvula, Optic nerve hypoplasia, Cleft palate, Microcephaly, Bifid... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Scoliosis, Tooth agenesis, Bifid uvula, Optic nerve hypoplasia, Cleft palate, Microcephaly, Bifid... ORPHA:352665
Frontonasal Dysplasia 1
Median cleft palate, Camptodactyly, Pericallosal lipoma, Widely-spaced maxillary central incisors... OMIM:136760
Takenouchi-Kosaki Syndrome
Camptodactyly, Scoliosis, Progressive microcephaly, Widely spaced teeth, Dental malocclusion, Dow... OMIM:616737
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Cleft palate, Narrow mouth, Camptodactyly of toe, Camptodactyly, Short neck, Knee flex... OMIM:265000
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Oligodontia, Malar flattening, Persistence of primary teeth, Enamel hypoplasia, Mi... OMIM:618727
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Short neck, Synostosis of carpal bones, Short stature, Microphthalmia, Microdontia, Ky... ORPHA:3191
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Macrocephaly, Camptodactyly of finger, High palate, Short stature, Microcephaly, Hypoplasia of th... ORPHA:85279
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Microcephaly, Microphthalmia, Growth delay OMIM:278780
Baraitser-Winter Syndrome 1
Retrognathia, Short neck, Short stature, Microphthalmia, Failure to thrive, Long philtrum, Pachyg... OMIM:243310
Lessel-Kreienkamp Syndrome
Open mouth, Dental malocclusion, Thin upper lip vermilion OMIM:619149
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Progressive microcephaly, Widely-spaced incisors, Pachygyria, Smooth philtrum, Subcortical band h... OMIM:618737
Rubinstein-Taybi Syndrome 1
Scoliosis, Truncal obesity, Cleft palate, Narrow mouth, Narrow palate, Smooth philtrum, Microceph... OMIM:180849
Bresek Syndrome
Scoliosis, Intrauterine growth retardation, Microphthalmia, Optic nerve hypoplasia, Neonatal deat... ORPHA:85284
Phelan-Mcdermid Syndrome
Macrocephaly, High palate, Malar flattening, Widely spaced teeth, Sacral dimple, Dental malocclus... OMIM:606232
Oculofaciocardiodental Syndrome
Oligodontia, Abnormality of the dentition, Tooth malposition, Abnormal palate morphology, Scolios... ORPHA:2712
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Focal cortical dysplasia, Microphthalmia, Hypoplasia of the brainstem, Microcephaly... OMIM:613155
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Primary microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Dysgenesis o... OMIM:615771
Temtamy Syndrome
Macrocephaly, Abnormal palate morphology, Microphthalmia, Aplasia/Hypoplasia of the corpus callos... ORPHA:1777
Warburg Micro Syndrome 3
Polymicrogyria, Secondary microcephaly, Kyphoscoliosis, Microphthalmia, Narrow palate, Downturned... OMIM:614222
Aarskog-Scott Syndrome
Camptodactyly of finger, Abnormality of the dentition, Short neck, Short stature, Cleft palate, E... ORPHA:915
Intellectual Developmental Disorder, Autosomal Recessive 68
Periventricular leukomalacia, Microcephaly, Small for gestational age, Hypoplasia of the maxilla OMIM:618302
7Q11.23 Microduplication Syndrome
Macrocephaly, Thin vermilion border, Cerebellar hypoplasia, Diastema, Short neck, Sacral dimple, ... ORPHA:96121
Cohen Syndrome
Delayed puberty, Scoliosis, Tooth agenesis, Microcephaly, Intrauterine growth retardation, Microp... ORPHA:193
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Decreased body weight, Short stature, Microphthalmia, Optic nerve hypoplasia, Dys... OMIM:614833
Micro Syndrome
Delayed puberty, High palate, Scoliosis, Joint stiffness, Intrauterine growth retardation, Short ... ORPHA:2510
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, High palate, Scoliosis, Bifid uvula, Pyloric stenosis, Truncal obesity... ORPHA:96184
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Deep philtrum, Talon cusp, Microdontia, Cleft palate, Carpal synostosis, Radioulnar syn... OMIM:605282
Microphthalmia, Syndromic 2
Oligodontia, Scoliosis, Bifid uvula, Phthisis bulbi, Supernumerary tooth, Microcephaly, Hypoplasi... OMIM:300166
Stickler Syndrome Type 1
Osteoarthritis, Cleft palate, Platyspondyly, Abnormality of vertebral epiphysis morphology, Long ... ORPHA:90653
Split-Hand/Foot Malformation 3
Camptodactyly, High palate, Cleft palate, Narrow mouth, Microretrognathia, Hypoplasia of the maxilla OMIM:246560
Robinow Syndrome
Macrocephaly, Fused thoracic vertebrae, Scoliosis, Tooth malposition, Ankyloglossia, Bifid tongue... ORPHA:97360
Craniolenticulosutural Dysplasia
Premature loss of teeth, High palate, Scoliosis, Posterior wedging of vertebral bodies, Hypoplasi... ORPHA:50814
Congenital Myopathy 17
High palate, Distal arthrogryposis, Failure to thrive in infancy, Mandibular prognathia, Narrow j... OMIM:618975
Au-Kline Syndrome
Craniosynostosis, Oligodontia, Open mouth, Retrognathia, High palate, Bifid uvula, Thoracolumbar ... OMIM:616580
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Slender build, Intrauterine growth retardation, Short stature, Osteope... OMIM:608154
Hamamy Syndrome
Craniosynostosis, High palate, Enamel hypoplasia, Osteopenia, Everted lower lip vermilion, Dental... OMIM:611174
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Osteolysis, Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Microphthalmia With Limb Anomalies
High palate, Retrognathia, Metatarsal synostosis, Deep philtrum, Camptodactyly of 2nd-5th fingers... OMIM:206920
Elsahy-Waters Syndrome
High palate, Anteriorly placed anus, Bifid uvula, Malar flattening, Abnormality of the anus, Broa... OMIM:211380
Ring Chromosome 10 Syndrome
Short neck, Intrauterine growth retardation, Cachexia, Microphthalmia, Aganglionic megacolon, Lon... ORPHA:1438
Spondyloenchondrodysplasia
Juvenile rheumatoid arthritis, Disproportionate short-trunk short stature, Short stature, Arthrit... ORPHA:1855
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Malar flattening, Hypoplasia of the pons, Mandibular prognathia, Optic nerve hypopl... OMIM:620157
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Thin u... OMIM:618067
Geroderma Osteodysplasticum
Camptodactyly, Severe short stature, Irregular vertebral endplates, Malar flattening, Osteoporosi... OMIM:231070
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Widely spaced teeth, Intrauterine growth retardation, Microdontia, Microphth... ORPHA:2728
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia, Atlantoaxial instability, Epiphyseal stippling, St... ORPHA:79345
Osteogenesis Imperfecta
Macrocephaly, Scoliosis, Abnormal cortical bone morphology, Rhizomelia, Osteoarthritis, Decreased... ORPHA:666
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Scoliosis, Short stature, Kyphosis, Bowing of limbs due to multiple... OMIM:166220
Atelosteogenesis, Type Iii
Scoliosis, Short neck, Malar flattening, Rhizomelia, Horizontal sacrum, Cleft palate, Cervical se... OMIM:108721
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Camptodactyly, Retrognathia, Conical incisor, Oligodontia, Scoliosis, M... OMIM:235510
Faciocardiomelic Syndrome
Cuboid-shaped vertebral bodies, Osteopenia, Hyperplasia of the maxilla, Dental malocclusion, Long... OMIM:612731
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Severe intrauterine growth retardation, Microphthalmia, Patchy osteosclerosis, Long ... OMIM:241410
Sclerosteosis 1
Tooth malposition, Malar flattening, Facial palsy secondary to cranial hyperostosis, Mandibular p... OMIM:269500
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Macrocephaly, Mandibular prognathia, Crowded maxillary incisors, Hypoplasia of the maxilla, Obesity ORPHA:397973
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Macrocephaly, Short stature, Microphthalmia, Relative macrocephal... OMIM:617306
Hartsfield Syndrome
Craniosynostosis, Intrauterine growth retardation, Microphthalmia, Cleft palate, Non-midline clef... ORPHA:2117
Hydrolethalus
Retrognathia, Bifid uvula, Agenesis of corpus callosum, Unilateral cleft lip, Absent septum pellu... ORPHA:2189
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Dental enamel pits, Taurodontia, Enamel hypomineralization, Widel... ORPHA:3352
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hyperintensity of cerebral white matter on MRI, High palate, Progressive microcephaly, Global bra... ORPHA:481152
Coffin-Lowry Syndrome
Scoliosis, Widely spaced teeth, Narrow palate, Microcephaly, Aplasia/Hypoplasia of the cerebellum... ORPHA:192
Cockayne Syndrome A
Cerebral atrophy, Hypoplasia of teeth, Severe postnatal growth retardation, Mandibular prognathia... OMIM:216400
3Q29 Microduplication Syndrome
Craniosynostosis, Macrocephaly, Camptodactyly of toe, Biparietal narrowing, High palate, Abnormal... ORPHA:251038
Ritscher-Schinzel Syndrome 2
Camptodactyly of finger, Camptodactyly, High palate, Scoliosis, Intestinal malrotation, Wide ante... OMIM:300963
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Macrocephaly, Scoliosis, Retrognathia, Cleft lip, Joint contracture of the 5th finger, Deep philt... OMIM:620098
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Intrauterine growth retardation, Abnormality of canine, Microphthalmia, Prominence o... ORPHA:364577
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Simplified gyral pattern, Intrauterine growth retardation, Micropht... OMIM:251230
Spondylo-Ocular Syndrome
Thoracic kyphosis, Short neck, Osteoporosis, Disproportionate short-trunk short stature, Short st... ORPHA:85194
Facial Clefting, Oblique, 1
Cleft upper lip, Microphthalmia, Cleft palate OMIM:600251
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macrocephaly, Polymicrogyria, High palate, Bilateral cleft lip and palate, Malar flattening, Anky... OMIM:618874
Localized Scleroderma
Abnormality of the dentition, Sclerosis of finger phalanx, Arthritis, Esophagitis, Dental maloccl... ORPHA:90289
Marshall Syndrome
Knee osteoarthritis, Bifid uvula, Malar flattening, Calcification of falx cerebri, Short stature,... OMIM:154780
Chromosome 13Q33-Q34 Deletion Syndrome
Microcephaly, Camptodactyly, Small for gestational age, Irregular dentition, Microphthalmia, Dela... OMIM:619148
Mend Syndrome
High palate, Wide anterior fontanel, Sacral dimple, Short stature, Microphthalmia, Failure to thr... ORPHA:401973
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Camptodactyly, Scoliosis, Widely spaced teeth, Tented upper lip vermilion, Dental malocclusion, D... ORPHA:487796
Nance-Horan Syndrome
Screwdriver-shaped incisors, Diastema, Microphthalmia, Mulberry molar, Supernumerary maxillary in... OMIM:302350
Coffin-Lowry Syndrome
Open mouth, High palate, Scoliosis, Widely spaced teeth, Mandibular prognathia, Short stature, Ky... OMIM:303600
Joubert Syndrome 37
High palate, Lumbar hyperlordosis, Short stature, Microphthalmia, Joint hypermobility, Hypoplasia... OMIM:619185
Andersen Cardiodysrhythmic Periodic Paralysis
Oligodontia, High palate, Antegonial notching of mandible, Scoliosis, Malar flattening, Persisten... OMIM:170390
Basel-Vanagaite-Smirin-Yosef Syndrome
High palate, Scoliosis, Retrognathia, Cerebral atrophy, Kyphosis, Microphthalmia, Cleft palate, E... OMIM:616449
Cherubism
Oligodontia, Jaw swelling, Multiple impacted teeth, Dental malocclusion, Narrow palate, Alveolar ... OMIM:118400
Cockayne Syndrome
Delayed puberty, Scoliosis, Progressive microcephaly, Agenesis of permanent teeth, Cachexia, Cari... ORPHA:191
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Basal ganglia calcification, Short stature, Cerebral calcification, Dental ... OMIM:259730
Xk Aprosencephaly Syndrome
Narrow mouth, Anal atresia, Microcephaly, Microphthalmia ORPHA:3469
20P12.3 Microdeletion Syndrome
Macrocephaly, Malar flattening, Short stature, Narrow mouth, Long philtrum, Hypoplasia of the max... ORPHA:261295
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Short stature, Short philtrum, Decreased body weight, Hypoplasia of the ma... ORPHA:93945
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Microphthalmia, Cleft palate OMIM:120433
Microcephaly-Capillary Malformation Syndrome
Small for gestational age, Progressive microcephaly, Cerebral atrophy, Simplified gyral pattern, ... OMIM:614261
Meckel Syndrome, Type 8
Short neck, Microphthalmia, Cleft palate, Microcephaly, Cleft upper lip, Anophthalmia OMIM:613885
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Scoliosis, Widely spaced teeth, Deep philtrum, Short stature, Microphthalmia, Cleft ... OMIM:612530
Microphthalmia, Lenz Type
Camptodactyly of finger, Abnormality of the dentition, Scoliosis, Abnormality of dental morpholog... ORPHA:568
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Camptodactyly of finger, Abnormality of the dentition, Short neck, Submucous cl... ORPHA:178303
Martsolf Syndrome 1
Periventricular white matter hyperintensities, Tracheomalacia, High palate, Finger joint hypermob... OMIM:212720
Aarskog-Scott Syndrome
Delayed puberty, Scoliosis, Short neck, Broad philtrum, Cervical spine hypermobility, Short statu... OMIM:305400
Carpenter Syndrome 1
Coronal craniosynostosis, Camptodactyly, High palate, Cerebral atrophy, Agenesis of permanent tee... OMIM:201000
Moebius Syndrome
Camptodactyly, High palate, Abnormality of the dentition, Bifid uvula, Short neck, Microphthalmia... OMIM:157900
Faciodigitogenital Syndrome, Autosomal Recessive
Camptodactyly, High palate, Hyperextensible hand joints, Vertebral fusion, Trismus, Deep philtrum... OMIM:227330
Trichothiodystrophy 3, Photosensitive
Eclabion, Pyloric stenosis, Intrauterine growth retardation, Short stature, Microphthalmia, Failu... OMIM:616395
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Carpal osteolysis, Osteopenia, Micrognathia, Osteol... OMIM:166300
3P25.3 Microdeletion Syndrome
Scoliosis, Pyloric stenosis, Deep philtrum, Mandibular prognathia, Knee flexion contracture, Sacr... ORPHA:435638
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Bifid uvula, Deep philtrum, Kyphosis, Microphthalmia, Cleft palate, Downturned corners... ORPHA:404440
Oculocerebrocutaneous Syndrome
Anophthalmia, Dandy-Walker malformation, Microphthalmia, Cleft palate, Hypoplasia of the corpus c... OMIM:164180
Congenital Varicella Syndrome
Intrauterine growth retardation, Microcephaly, Microphthalmia, Cerebral cortical atrophy ORPHA:291
Trisomy 13
Abnormality of the dentition, Scoliosis, Malar flattening, Intrauterine growth retardation, Kypho... ORPHA:3378
Peters-Plus Syndrome
Macrocephaly, Scoliosis, Rhizomelia, Widely spaced teeth, Cleft palate, Thin vermilion border, Mi... OMIM:261540
Barber-Say Syndrome
High palate, Widely spaced teeth, Mandibular prognathia, Dental malocclusion, Delayed eruption of... OMIM:209885
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Macrocephaly, High palate, Diastema, Mandibular prognathia, Short stature, Failure to thrive, Smo... OMIM:300534
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Bicoronal synostosis, Oligodontia, Scoliosis, Joint stiffness, Misalignment of incisors, Intraute... OMIM:619184
Martin-Probst Syndrome
Malar flattening, Short stature, Dental malocclusion, Microcephaly, Micrognathia, Wide mouth, Thi... OMIM:300519
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Microphthalmia, Megalencephaly, Joint laxity, Smooth philtrum, Progressive macroc... OMIM:602501
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Inferior cerebellar vermis hypoplasia, Scoliosis, Cleft lip, Short neck, Deep philtrum, Short sta... OMIM:618571
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Camptodactyly, Malar flattening, Dental malocclusion, Micrognathia, Joint contracture of the hand OMIM:608257
Mohr Syndrome
High palate, Scoliosis, Malar flattening, Short stature, Porencephalic cyst, Cleft palate, Access... OMIM:252100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Simplified gyral pattern, Short stature, Microphthalmia, Pachygyria, Microcepha... OMIM:251270
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Microphthalmia, Long philtrum, Microcephaly, Hypoplasia of the corpus callosum, Ag... OMIM:300887
Cole-Carpenter Syndrome 2
Macrocephaly, Coronal craniosynostosis, High palate, Short stature, Osteopenia, Kyphosis, Platysp... OMIM:616294
Pde4D Haploinsufficiency Syndrome
Irregular vertebral endplates, Malar flattening, Mandibular prognathia, Abnormal dental enamel mo... ORPHA:439822
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Cleft lip, Short neck, Wide anterior fontanel, Microphthalmia, Neonatal death, Clef... OMIM:617925
Distal Limb Deficiencies-Micrognathia Syndrome
Macrocephaly, High palate, Short stature, Microdontia, Cleft palate, Narrow mouth, Microretrognat... ORPHA:1307
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Microphthalmia, Limitation of joint mobility, Micrognathia, Duodenal ste... ORPHA:2547
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Polymicrogyria, Open mouth, Scoliosis, Cerebral atrophy, Anteriorly placed anus, Microphthalmia, ... OMIM:618494
Mccune-Albright Syndrome
Scoliosis, Polyostotic fibrous dysplasia, Osteomalacia, Monostotic fibrous dysplasia, Dental malo... ORPHA:562
Congenital Toxoplasmosis
Failure to thrive in infancy, Intrauterine growth retardation, Cerebral calcification, Microphtha... ORPHA:858
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Scoliosis, Diffuse white matter abnormalities, Flexion contracture, Agenesis of corp... OMIM:218000
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Intrauterine growth retardation, Short stature, Microphthalmia, Platyspondyly, Cerebe... ORPHA:163966
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Abnormality of primary teeth, Tented upper lip vermilion, Incisor macrodontia, Micro... ORPHA:438216
Tetrasomy 5P
Macrocephaly, Pericallosal lipoma, High palate, Short neck, Wide anterior fontanel, Failure to th... ORPHA:3309
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Macrocephaly, Malar flattening, Abnormality of the vertebral column, Short stature, Agenesis of c... OMIM:109120
Craniotelencephalic Dysplasia
Craniosynostosis, Septo-optic dysplasia, Microphthalmia, Lissencephaly, Microcephaly, Cerebellar ... ORPHA:1528
Frontorhiny
Pericallosal lipoma, Camptodactyly of finger, Scoliosis, Lumbar hyperlordosis, Hypoplastic fronta... ORPHA:391474
Weill-Marchesani Syndrome 1
Broad skull, Tooth malposition, Joint stiffness, Scoliosis, Lumbar hyperlordosis, Abnormality of ... OMIM:277600
Mandibulofacial Dysostosis With Alopecia
Trismus, Cleft palate, Everted lower lip vermilion, Dental crowding, Glossoptosis, Micrognathia, ... OMIM:616367
Microphthalmia, Isolated, With Coloboma 5
Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Chondrodysplasia Punctata 2, X-Linked Dominant
Stippled calcification in carpal bones, Scoliosis, Short neck, Malar flattening, Rhizomelia, Kyph... OMIM:302960
Fanconi Anemia, Complementation Group R
Anal atresia, Scoliosis, Agenesis of permanent teeth, Radial dysplasia, Microphthalmia, Microceph... OMIM:617244
Crouzon Syndrome
Multiple suture craniosynostosis, Abnormal sacrum morphology, Narrow palate, Cerebellar hypoplasi... ORPHA:207
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Acrocallosal Syndrome
Macrocephaly, Bifid uvula, Cleft palate, Narrow mouth, Prominent palatine ridges, Thin vermilion ... OMIM:200990
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Anophthalmia, Bilateral cleft lip and palate, Microphthalmia OMIM:600776
X-Linked Dominant Chondrodysplasia Punctata
High palate, Neonatal epiphyseal stippling, Severe postnatal growth retardation, Short stature, M... ORPHA:35173
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
High palate, Retrognathia, Bifid uvula, Malar flattening, Microphthalmia, Dental malocclusion, Jo... OMIM:601552
Mandibulofacial Dysostosis-Microcephaly Syndrome
Secondary microcephaly, Malar flattening, Short stature, Accessory oral frenulum, Cleft palate, M... ORPHA:79113
Temtamy Syndrome
Hypoplasia of teeth, Microphthalmia, Dental crowding, Thick corpus callosum, Long philtrum, Micro... OMIM:218340
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Angelman Syndrome
Macroglossia, Scoliosis, Secondary microcephaly, Widely spaced teeth, Mandibular prognathia, Prot... OMIM:105830
Treacher-Collins Syndrome
Tooth agenesis, Cleft palate, Narrow mouth, Rectovaginal fistula, Cleft upper lip, Malar flatteni... ORPHA:861
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Intestinal malrotation, Secondary microcephaly, Talon cusp, Short stature, Failure to thrive, Den... ORPHA:353281
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Wide anterior fontanel, Short stature, Osteopenia, Everted lower lip vermilion... OMIM:225410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Scoliosis, Progressive microcephaly, Abnormally large globe, Microphthalmi... OMIM:615249
Insulin-Like Growth Factor I Deficiency
Intrauterine growth retardation, Short stature, Osteopenia, Microcephaly, Micrognathia, Postnatal... OMIM:608747
Adams-Oliver Syndrome 2
Macrocephaly, Polymicrogyria, Cerebral atrophy, Microphthalmia, Microcephaly, Cerebellar hypoplas... OMIM:614219
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth, Conical incisor OMIM:614564
Craniotelencephalic Dysplasia
Craniosynostosis, Absent septum pellucidum, Microphthalmia, Optic nerve hypoplasia, Lissencephaly... OMIM:218670
Multicentric Osteolysis, Nodulosis, And Arthropathy
Interphalangeal joint contracture of finger, C1-C2 subluxation, Thin bony cortex, Kyphoscoliosis,... OMIM:259600
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Tooth agenesis, Microphthalmia, Cleft palate ORPHA:1135
Rere-Related Neurodevelopmental Syndrome
Scoliosis, Intrauterine growth retardation, Microphthalmia, Micrognathia, Postnatal growth retard... ORPHA:494344
Meier-Gorlin Syndrome 5
Thick vermilion border, Submucous cleft hard palate, Intrauterine growth retardation, Short statu... OMIM:613805
Nanophthalmos
Microphthalmia ORPHA:35612
Fontaine Progeroid Syndrome
Oligodontia, Scoliosis, Narrow mouth, Smooth philtrum, Microcephaly, Cerebellar hypoplasia, Hypop... OMIM:612289
Keipert Syndrome
Macrocephaly, Short stature, Tented upper lip vermilion, Exaggerated cupid's bow, Hypoplasia of t... ORPHA:2662
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Orofacial cleft, Macrocephaly at birth, Microphthalmia ORPHA:324416
17Q12 Microduplication Syndrome
Microphthalmia, Cleft palate, Cortical dysplasia, Tracheoesophageal fistula, Abnormal vertebral m... ORPHA:261272
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal sacrum morphology, Abnormal palate morphology, Malar flattening, Aplasia/Hypoplasia of t... ORPHA:93262
Galloway-Mowat Syndrome 3
Camptodactyly, High palate, Cerebral atrophy, Hiatus hernia, Simplified gyral pattern, Intrauteri... OMIM:617729
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Simplified gyral pattern, Mandibular prognathia, Deep philtrum, Microphthalmia, Long philtrum, Mi... OMIM:152950
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
High palate, Scoliosis, Macrogyria, Progressive microcephaly, Abnormally large globe, Hypoplasia ... OMIM:300749
Skin Creases, Congenital Symmetric Circumferential, 1
High palate, Short neck, Microphthalmia, Cleft palate, Narrow mouth, Long philtrum, Microcephaly,... OMIM:156610
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Type II lissencephaly, Polymicrogyria, Lumbar hyperlordosis, Diffuse white matter a... ORPHA:370959
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Camptodactyly, Open mouth, High palate, Bilateral microphthalmos, Short neck, Arthr... ORPHA:369891
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Thin corpus callosum, Microphthalmia, Tented upper lip vermilion, Long philtrum, Mic... OMIM:614105
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Pericallosal lipoma, Aplasia/Hypoplasia of the frontal sinuses, Hypoplas... ORPHA:306542
Acrodysostosis
Open mouth, Mandibular prognathia, Short stature, Spinal canal stenosis, Delayed eruption of teet... ORPHA:950
3Q29 Microdeletion Syndrome
Macrocephaly, High palate, Abnormality of the dentition, Six lumbar vertebrae, Microphthalmia, Fa... ORPHA:65286
Sanjad-Sakati Syndrome
Abnormality of the dentition, Intestinal obstruction, Severe intrauterine growth retardation, Sho... ORPHA:2323
Nance-Horan Syndrome
Mandibular prognathia, Supernumerary tooth, Microphthalmia, Abnormality of the dentition ORPHA:627
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Cleft lip, Rhizomelia, Relative macrocephaly, Microphthalmia, Unicoronal synostosis... OMIM:616300
Lissencephaly 8
Type II lissencephaly, Polymicrogyria, Microphthalmia, Hypoplasia of the brainstem, Microcephaly,... OMIM:617255
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Pursed lips, Malar flattening, Aglossia, Micrognathia, Hypoplasia of th... OMIM:241310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Type II lissencephaly, Agenesis of cerebellar vermis, Agenesis of corpus callosum, Hypoplasia of ... OMIM:613153
Fanconi Anemia, Complementation Group G
Microcephaly, Microphthalmia, Growth delay OMIM:614082
Oculodentodigital Dysplasia
Premature loss of teeth, High palate, Selective tooth agenesis, Joint contracture of the 5th fing... OMIM:164200
Bosma Arhinia Microphthalmia Syndrome
High palate, Paranasal sinus hypoplasia, Hypoplasia of teeth, Cleft lip, Microphthalmia, Cleft pa... OMIM:603457
Cerebrofacioarticular Syndrome
Tracheomalacia, Camptodactyly, Irregular dentition, Anteriorly placed anus, Short stature, Osteop... ORPHA:314679
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Bilateral microphthalmos, Sacral dimple, Short stature, Hemivertebrae, Unilateral m... OMIM:619318
Premature Aging Syndrome, Penttinen Type
Macrocephaly, Scoliosis, Retrognathia, Osteolytic defects of the distal phalanges of the hand, Os... OMIM:601812
Warburg Micro Syndrome 4
Secondary microcephaly, Severe postnatal growth retardation, Perisylvian polymicrogyria, Short st... OMIM:615663
Andersen-Tawil Syndrome
Oligodontia, High palate, Abnormality of the dentition, Scoliosis, Persistence of primary teeth, ... ORPHA:37553
3Mc Syndrome 1
Coronal craniosynostosis, Cleft lip, Wide anterior fontanel, Sacral dimple, Cleft palate, Dental ... OMIM:257920
Distal Xq28 Microduplication Syndrome
Open mouth, High palate, Short lingual frenulum, Short stature, Dental crowding, Microcephaly, Hy... ORPHA:293939
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Carious teeth, Dental malocclusion OMIM:615560
Walker-Warburg Syndrome
Macrocephaly, Abnormal cortical gyration, Polymicrogyria, Macrogyria, Bifid uvula, Absent septum ... ORPHA:899
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Conical tooth, Coronal craniosynostosis, Abnormality of the dentition, Agenesis of cerebellar ver... ORPHA:228390
Galloway-Mowat Syndrome 1
Camptodactyly, Small for gestational age, High palate, Cerebral atrophy, Secondary microcephaly, ... OMIM:251300
Aneurysm-Osteoarthritis Syndrome
Craniosynostosis, Knee osteoarthritis, Camptodactyly of finger, High palate, Retrognathia, Scolio... ORPHA:284984
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Retrognathia, Cerebral atrophy, Mandibular prognathia, Exaggerated cupid's bow, Kyphos... ORPHA:464738
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Conical incisor, Osteopenia, Dental malocclusion, Joint laxity, Thin vermilion border, Long philt... ORPHA:73223
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Macrocephaly, Scoliosis, Cleft palate, Microcephaly, Hypoplasia of the corpus callosum, Cleft upp... OMIM:213980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Type II lissencephaly, Scoliosis, Microphthalmia, Buphthalmos, Cleft palate, Partia... OMIM:613150
Meier-Gorlin Syndrome 4
Intrauterine growth retardation, Short stature, Birth length less than 3rd percentile, Failure to... OMIM:613804
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Partial agenesis of the corpus callosum, Hypoplasia of teeth, Microphthalmia, Micro... OMIM:234050
Cowden Syndrome 5
High palate, Scoliosis, Kyphosis, Narrow mouth, Hamartomatous polyposis, Micrognathia, Furrowed t... OMIM:615108
Rapp-Hodgkin Syndrome
Conical tooth, Bifid uvula, Taurodontia, Short stature, Enamel hypoplasia, Cleft palate, Microdon... OMIM:129400
Cat-Eye Syndrome
Anal atresia, Intrauterine growth retardation, Short stature, Microphthalmia ORPHA:195
Biemond Syndrome Type 2
Delayed puberty, Short stature, Microphthalmia, Obesity ORPHA:141333
Craniosynostosis And Dental Anomalies
Coronal craniosynostosis, High palate, Mandibular prognathia, Short stature, Dental crowding, Lam... OMIM:614188
Ohdo Syndrome, X-Linked
High palate, Scoliosis, Hiatus hernia, Widely spaced teeth, Microdontia, Microphthalmia, Narrow m... OMIM:300895
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Open mouth, Hypoplasia of the corpus callosum, Macrodontia of permanent maxillary central incisor... OMIM:620114
Stevenson-Carey Syndrome
Camptodactyly, Scoliosis, Microphthalmia, Narrow mouth, Downturned corners of mouth, Cerebellar h... OMIM:611961
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, Hypoplasia of the frontal lobes, Olivopontocerebellar hypoplasia, Optic ... ORPHA:468631
Rothmund-Thomson Syndrome, Type 2
Small for gestational age, High palate, Anteriorly placed anus, Agenesis of permanent teeth, Hypo... OMIM:268400
Chromosome 8Q21.11 Deletion Syndrome
Camptodactyly, High palate, Short neck, Microphthalmia, Micrognathia, Cleft palate, Downturned co... OMIM:614230
Crouzon Syndrome
Coronal craniosynostosis, High palate, Mandibular prognathia, Dental crowding, Lambdoidal cranios... OMIM:123500
Marshall Syndrome
High palate, Abnormality of the dentition, Hypoplastic frontal sinuses, Malar flattening, Osteoar... ORPHA:560
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Oligodontia, High palate, Intrauterine growth retardation, Microphthalmia, Failure to thrive, Cle... OMIM:608670
Williams Syndrome
Scoliosis, Malabsorption, Carious teeth, Microcephaly, Aplasia/Hypoplasia of the iris, Rectal pro... ORPHA:904
Focal Dermal Hypoplasia
Oligodontia, Scoliosis, Anteriorly placed anus, Hiatus hernia, Enamel hypoplasia, Microphthalmia,... OMIM:305600
Joubert Syndrome 14
Open mouth, Agenesis of cerebellar vermis, Malar flattening, Microphthalmia, Cleft palate, Tented... OMIM:614424
Dubowitz Syndrome
High palate, Agenesis of permanent teeth, Submucous cleft hard palate, Intrauterine growth retard... OMIM:223370
Noonan Syndrome 1
High palate, Short neck, Failure to thrive in infancy, Short stature, Cleft palate, High, narrow ... OMIM:163950
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Scoliosis, Short neck, Deep philtrum, Short stature, Microphthalmia, Cle... ORPHA:251014
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Narrow palate, Supernumerary tooth, Carious teeth, Secondary microcephaly, Intrauterine growth re... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Narrow palate, Supernumerary tooth, Carious teeth, Secondary microcephaly, Intrauterine growth re... ORPHA:353277
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macrocephaly, Open mouth, High palate, Deep philtrum, Dental crowding, Joint laxity, Short philtr... OMIM:309520
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Microphthalmia, Cleft palate, Long philtrum, Microcephaly, Micrognathia ORPHA:2505
Axenfeld-Rieger Syndrome
Microdontia, Everted lower lip vermilion, Hypodontia, Growth delay, Aplasia/Hypoplasia of the iri... ORPHA:782
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Retrognathia, Joint contracture of the 5th finger, Mandibular prognathia, Micropht... OMIM:618914
Microphthalmia With Limb Anomalies
High palate, Abnormal form of the vertebral bodies, Camptodactyly of 2nd-5th fingers, Synostosis ... ORPHA:1106
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Camptodactyly of finger, Hypoplasia of the maxilla ORPHA:1529
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Hallermann-Streiff Syndrome
Reduced bone mineral density, Tracheomalacia, Abnormality of the dentition, Malar flattening, Mic... ORPHA:2108
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate, Agenesis of pineal gland, Cleft upper lip, Agenesis of corpus callosum OMIM:614402
Stromme Syndrome
Duodenal atresia, Jejunal atresia, Microphthalmia, Optic nerve hypoplasia, Stillbirth, Cleft pala... OMIM:243605
Cowden Syndrome 6
High palate, Scoliosis, Kyphosis, Narrow mouth, Hamartomatous polyposis, Micrognathia, Furrowed t... OMIM:615109
Orofaciodigital Syndrome Type 2
High palate, Hypoplasia of teeth, Taurodontia, Talon cusp, Short stature, Tongue nodules, Peg-sha... ORPHA:2751
Mosaic Trisomy 9
Biparietal narrowing, Camptodactyly of finger, High palate, Scoliosis, Short neck, Intrauterine g... ORPHA:99776
8Q21.11 Microdeletion Syndrome
Camptodactyly of finger, High palate, Abnormality of the dentition, Short neck, Microphthalmia, N... ORPHA:284160
Cousin Syndrome
Anterior rounding of vertebral bodies, Macrocephaly, Camptodactyly, Prominent protruding coccyx, ... OMIM:260660
Ellis Van Creveld Syndrome
Abnormality of the dentition, Conical incisor, Intrauterine growth retardation, Synostosis of car... ORPHA:289
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Branchioskeletogenital Syndrome
Craniosynostosis, Premature loss of teeth, Abnormality of the dentition, Anteriorly placed anus, ... ORPHA:1299
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Microphthalmia, Smooth philtrum, Micrognathia, Cleft soft palate OMIM:614526
Kapur-Toriello Syndrome
Polymicrogyria, Camptodactyly of finger, Scoliosis, Short neck, Intrauterine growth retardation, ... OMIM:244300
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Camptodactyly of finger, Lumbar hyperlordosis, Bilateral micropht... ORPHA:2839
Mosaic Trisomy 1
Macrocephaly, Knee joint hypermobility, Camptodactyly of finger, Polymicrogyria, Short upper lip,... ORPHA:1692
Frontofacionasal Dysplasia
Bifid uvula, Malar flattening, Hypoplasia of the frontal bone, Microphthalmia, Cleft upper lip, O... OMIM:229400
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Intrauterine growth retardation, Microphthalmia, Anencephaly, Clef... OMIM:611134
Developmental And Epileptic Encephalopathy 1
Global brain atrophy, Microcephaly, Microphthalmia, Growth delay OMIM:308350
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Severe postnatal growth retardation, Microphthalmia, Microcephaly, Hypo... ORPHA:2399
Zttk Syndrome
Macrocephaly, Scoliosis, Bifid uvula, Narrow mouth, Intestinal atresia, Thin vermilion border, Ce... OMIM:617140
Monosomy 9Q22.3
Macrocephaly, Short neck, Abnormality of the vertebral column, Odontogenic keratocysts of the jaw... ORPHA:77301
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Cerebellar hypoplasia, Microphthalmia, Neonatal death OMIM:613730
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Macrocephaly, Rhizomelia, Intrauterine growth retardation, Short stature, Microphthalmia, Platysp... OMIM:300863
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Short stature, Cleft palate, Aplastic zygomatic arch, Microcephaly, Micrognathia, D... OMIM:616462
Myhre Syndrome
Macrocephaly, Cleft palate, Narrow mouth, Microcephaly, Camptodactyly, Small for gestational age,... OMIM:139210
Nanophthalmos 4
Microphthalmia OMIM:615972
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate, Hypoplasia of the maxilla ORPHA:99772
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft lip and palate, Microphthalmia ORPHA:1473
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Ear-Patella-Short Stature Syndrome
Craniosynostosis, Camptodactyly of finger, Thick vermilion border, Retrognathia, Severe short sta... ORPHA:2554
Autosomal Recessive Spastic Paraplegia Type 77
Retrognathia, Kyphoscoliosis, Macrodontia of permanent maxillary central incisor ORPHA:466722
Solitary Median Maxillary Central Incisor
Solitary median maxillary central incisor, Short stature, Microphthalmia, Prominent median palata... OMIM:147250
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Hypoplasia of the maxilla, Micrognathia OMIM:601809
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Short stature, Microphthalmia, Osteopenia, Joint laxity, Increased susceptibility t... ORPHA:2788
Shprintzen-Goldberg Syndrome
Craniosynostosis, Camptodactyly of finger, Scoliosis, Retrognathia, Joint stiffness, Osteopenia, ... ORPHA:2462
Fryns Syndrome
High palate, Anal atresia, Duodenal atresia, Short neck, Dandy-Walker malformation, Microphthalmi... ORPHA:2059
Greenberg Dysplasia
Macrocephaly, Absent or minimally ossified vertebral bodies, Rhizomelia, Multiple prenatal fractu... OMIM:215140
Weill-Marchesani Syndrome 2
High palate, Broad skull, Tooth malposition, Joint stiffness, Scoliosis, Lumbar hyperlordosis, Fl... OMIM:608328
Fanconi Anemia, Complementation Group I
Decreased body weight, Short neck, Absent septum pellucidum, Intrauterine growth retardation, Sho... OMIM:609053
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Apert Syndrome
Esophageal atresia, Bifid uvula, Absent septum pellucidum, Mandibular prognathia, Cleft palate, C... ORPHA:87
Fraser Syndrome
High palate, Anal atresia, Microphthalmia, Dental crowding, Dental malocclusion, Ectopic anus, Bi... ORPHA:2052
Aicardi Syndrome
Delayed puberty, Polymicrogyria, Scoliosis, Butterfly vertebrae, Partial agenesis of the corpus c... ORPHA:50
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Cerebellar hypoplasia, Microphthalmia OMIM:614830
1Q21.1 Microdeletion Syndrome
High palate, Scoliosis, Ankyloglossia, Intrauterine growth retardation, Short stature, Microphtha... ORPHA:250989
Basal Cell Nevus Syndrome 1
Macrocephaly, Scoliosis, Vertebral fusion, Odontogenic keratocysts of the jaw, Mandibular prognat... OMIM:109400
Aicardi Syndrome
Polymicrogyria, Scoliosis, Butterfly vertebrae, Partial agenesis of the corpus callosum, Hiatus h... OMIM:304050
Cowden Syndrome 1
Hemimegalencephaly, High palate, Scoliosis, Kyphosis, Narrow mouth, Hamartomatous polyposis, Micr... OMIM:158350
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Retrognathia, Malabsorption, Intestinal obstruction, Short stature, Mi... OMIM:601675
Nager Syndrome
Abnormal palate morphology, Joint stiffness, Cleft palate, Non-midline cleft lip, Wide mouth, Mic... ORPHA:245
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Stickler Syndrome
Scoliosis, Slender build, Tooth agenesis, Osteoarthritis, Cachexia, Cleft palate, Cleft upper lip... ORPHA:828
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anal atresia, Anteriorly placed anus, Intrauterine growth retardation, Microphthalmia, Microcepha... ORPHA:1352
Pfeiffer Syndrome
Elbow ankylosis, Coronal craniosynostosis, High palate, Mandibular prognathia, Dental crowding, H... OMIM:101600
Fraser Syndrome 1
Abnormal cortical gyration, Bilateral microphthalmos, Difficulty in tongue movements, Abnormality... OMIM:219000
Kapur-Toriello Syndrome
Polymicrogyria, Short neck, Microphthalmia, Failure to thrive, Dysplastic corpus callosum, Pachyg... ORPHA:2328
Tetraamelia-Multiple Malformations Syndrome
Anal atresia, Septo-optic dysplasia, Microphthalmia, Narrow mouth, Micrognathia, Abnormally ossif... ORPHA:3301
Osteoglophonic Dysplasia
Craniosynostosis, Camptodactyly of finger, High palate, Eruption failure, Severe short stature, S... OMIM:166250
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, High palate, Microphthalmia, Microcephaly, Agenesis of cor... ORPHA:139471
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Saethre-Chotzen Syndrome
Craniosynostosis, Proximal radio-ulnar synostosis, Scoliosis, Short stature, Cleft palate, Hyperl... ORPHA:794
Myoclonic-Astatic Epilepsy
Broad philtrum, Microphthalmia, Long philtrum, Microcephaly, Thin upper lip vermilion, Wide mouth... ORPHA:1942
Roberts Syndrome
Craniosynostosis, High palate, Short neck, Malar flattening, Knee flexion contracture, Synostosis... ORPHA:3103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Hypoplasia of the pons, Microphthalmia, Optic nerve hypopl... OMIM:615181
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Congenital Rubella Syndrome
Intrauterine growth retardation, Short stature, Microphthalmia, Microcephaly, Aplasia/Hypoplasia ... ORPHA:290
Trisomy 18
Camptodactyly of finger, Esophageal atresia, Anal atresia, Intrauterine growth retardation, Short... ORPHA:3380
Carpenter Syndrome 2
Craniosynostosis, Camptodactyly, High palate, Retrognathia, Short neck, Knee flexion contracture,... OMIM:614976
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Cortical thickening of long bone diaphyses, Persistence of primary teet... ORPHA:93325
Joubert Syndrome 22
Agenesis of cerebellar vermis, Temporal cortical atrophy, Intrauterine growth retardation, Microp... OMIM:615665
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Scoliosis, Tooth agenesis, Malabsorption, Osteomalacia, Narrow palate, Periodont... ORPHA:534
Teebi-Shaltout Syndrome
Camptodactyly, Oligodontia, Short stature, Microphthalmia, Cleft palate, High, narrow palate, Nar... OMIM:272950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Type II lissencephaly, Polymicrogyria, Anal atresia, Dandy-Walker malformation, Microphthalmia, O... OMIM:236670
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Meier-Gorlin Syndrome 1
Camptodactyly, Small for gestational age, Thick vermilion border, High palate, Intrauterine growt... OMIM:224690
Oculo-Palato-Cerebral Syndrome
Global brain atrophy, Intrauterine growth retardation, Short stature, Microphthalmia, Cleft palat... ORPHA:2714
Gracile Bone Dysplasia
Ankyloglossia, Short stature, Microphthalmia, Failure to thrive, Aniridia, Decreased skull ossifi... OMIM:602361
Microcephaly 20, Primary, Autosomal Recessive
Microlissencephaly, Simplified gyral pattern, Intrauterine growth retardation, Short stature, Mic... OMIM:617914
Atelis Syndrome 2
High palate, Diastema, Sacral dimple, Kyphosis, Microphthalmia, Downturned corners of mouth, Micr... OMIM:620185
Myhre Syndrome
Craniofacial hyperostosis, Abnormal lip morphology, Severe short stature, Joint stiffness, Bifid ... ORPHA:2588
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors, Micrognathia OMIM:610706
Nablus Mask-Like Facial Syndrome
Craniosynostosis, Camptodactyly, High palate, Retrognathia, Abnormality of the dentition, Seconda... OMIM:608156
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Tooth agenesis, Selective tooth agenesis, Anodontia, Aplasia of the maxilla, Agenesi... OMIM:313500
Cardioacrofacial Dysplasia 1
Conical tooth, Diastema, Accessory oral frenulum, Short philtrum, Hypoplasia of the maxilla OMIM:619142
Holoprosencephaly
Macrocephaly, Scoliosis, Tooth agenesis, Median cleft lip and palate, Solitary median maxillary c... ORPHA:2162
Frontofacionasal Dysplasia
Short stature, Microphthalmia, Cleft palate, Non-midline cleft lip, Hypoplasia of olfactory tract... ORPHA:1791
Ctcf-Related Neurodevelopmental Disorder
Craniosynostosis, Small for gestational age, Abnormality of the dentition, Joint contracture of t... ORPHA:363611
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia OMIM:167730
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Scoliosis, Abnormal palate morphology, Mandibular prognathia, Microphtha... ORPHA:1236
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Macrocephaly, High palate, Scoliosis, Lumbar hyperlordosis, Furrowed tongue, Cleft lip, Duodenal ... OMIM:616975
Dyskeratosis Congenita
Oral leukoplakia, Abnormality of the dentition, Scoliosis, Esophageal stenosis, Malabsorption, Os... ORPHA:1775
Neurooculocardiogenitourinary Syndrome
Secondary microcephaly, Downturned corners of mouth, Smooth philtrum, Mi