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Gene: Dnmt3b MGI:1261819

Gene Summary

Name:

DNA methyltransferase 3B

Synonyms:

N/A

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
hemorrhage	Dnmt3b^em1(IMPC)Mbp	HOM	E15.5
preweaning lethality, complete penetrance	Dnmt3b^em1(IMPC)Mbp	HOM	Early adult
abnormal placenta vasculature	Dnmt3b^em1(IMPC)Mbp	HOM	E15.5
microphthalmia	Dnmt3b^em1(IMPC)Mbp	HOM	E15.5
cleft palate	Dnmt3b^em1(IMPC)Mbp	HOM	E15.5
hemorrhage	Dnmt3b^em1(IMPC)Mbp	HET	E15.5
abnormal facial morphology	Dnmt3b^em1(IMPC)Mbp	HOM	E15.5
abnormal craniofacial morphology	Dnmt3b^em1(IMPC)Mbp	HOM	E15.5
embryonic growth retardation	Dnmt3b^em1(IMPC)Mbp	HOM	E15.5
abnormal placenta morphology	Dnmt3b^em1(IMPC)Mbp	HOM	E15.5
edema	Dnmt3b^em1(IMPC)Mbp	HOM	E15.5

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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.

Gross Morphology Embryo E14.5-E15.5

Images

34 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Dnmt3b 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 Dnmt3b (4 diseases)
Human diseases predicted to be associated with Dnmt3b (985 diseases)

The table below shows human diseases associated to Dnmt3b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Increased circulating IgM ...	OMIM:242860
Icf Syndrome	Depressed nasal bridge, Abnormality of neutrophils, Micrognathia, Hypertelorism, Decreased circul...	ORPHA:2268
Facioscapulohumeral Dystrophy	Hyperlordosis	ORPHA:269
Facioscapulohumeral Muscular Dystrophy 4, Digenic		OMIM:619478

The table below shows human diseases predicted to be associated to Dnmt3b by phenotypic similarity.

Disease	Matching phenotypes	Source
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Depressed nasal bridge, Hypertelorism, Decreased proportion of CD8-positive T cells, Wide anterio...	OMIM:617241
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus, Death in childhood	OMIM:200900
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Micrognathia, Short neck, Short nose, Abnormal vertebral morphology	ORPHA:2015
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of...	OMIM:619924
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Short nose, Pat...	OMIM:155050
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Depressed nasal bridge, Broad nasal tip, Hypertelorism, Wide anterior ...	OMIM:619736
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Intrauterine growth retardation, Cleft palate, Edema	OMIM:616570
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Depressed nasal bridge, Anteverted nares, Hypertelorism, Micrognathia, Wide anterior fontanel	OMIM:618272
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Depressed nasal bridge, Micrognathia, Hypertelorism, Cryptorchidism, Wid...	OMIM:614541
Rhizomelic Syndrome	Wide anterior fontanel, Micrognathia	OMIM:268250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Hypertelorism, Depressed nasal bridge, Decreased circulating antibody level	OMIM:616911
Hypothyroidism, Congenital, Nongoitrous, 4	Decreased circulating T4 concentration, Wide anterior fontanel, Depressed nasal bridge, Hypothyro...	OMIM:275100
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death, Eosinophilia, Neutropenia	OMIM:257100
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Wide anterior fontanel, Death in infancy, Deeply set eye, Death in childhood	OMIM:619064
Trigonocephaly 2	Depressed nasal bridge, Wide nasal bridge, Metopic synostosis, Hypertelorism	OMIM:614485
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c...	OMIM:615513
Acrocallosal Syndrome	Cryptorchidism, Wide anterior fontanel, Hypertelorism	ORPHA:36
Donnai-Barrow Syndrome	Depressed nasal bridge, Hypertelorism, Wide anterior fontanel, Proptosis, Short nose	ORPHA:2143
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Decreased response to growth hormone stimulation test, Craniosynostosis, Hypert...	OMIM:601853
Peroxisome Biogenesis Disorder 11A (Zellweger)	Large fontanelles, Wide anterior fontanel, Depressed nasal bridge, Anteverted nares	OMIM:614883
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Vertebral clefting, Dep...	ORPHA:1248
Acrofacial Dysostosis Syndrome Of Rodriguez	Prominent nose, Micrognathia, Wide anterior fontanel, Hypertelorism, Wide nasal bridge, Deeply se...	OMIM:201170
Smith-Kingsmore Syndrome	Depressed nasal bridge, Hypertelorism, Cryptorchidism, Wide anterior fontanel, Short nose, Thromb...	OMIM:616638
Gillessen-Kaesbach-Nishimura Syndrome	Underdeveloped nasal alae, Micrognathia, Wide anterior fontanel, Hypertelorism, Proptosis, Retrog...	OMIM:263210
Gombo Syndrome	Microphthalmia, Delayed puberty	OMIM:233270
Lissencephaly, X-Linked, 2	Prominent nasal bridge, Micrognathia, Wide anterior fontanel, Wide nasal bridge, Decreased testic...	OMIM:300215
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia	OMIM:619164
Six2-Related Frontonasal Dysplasia	Depressed nasal bridge, Hypertelorism, Broad nasal tip, Wide anterior fontanel, Premature posteri...	ORPHA:488437
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Neonatal Adrenoleukodystrophy	Wide anterior fontanel, Anteverted nares, Primary adrenal insufficiency, Wide nasal bridge	ORPHA:44
Peroxisome Biogenesis Disorder 3A (Zellweger)	Wide anterior fontanel, Wide nasal bridge	OMIM:614859
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormality of thyroid physiology, Wide anterior fontanel, Decreased circulating T4 concentration...	ORPHA:95715
20P13 Microdeletion Syndrome	Wide anterior fontanel, Prominent nasal bridge, Deeply set eye, Hypertelorism	ORPHA:313781
Peroxisome Biogenesis Disorder 7A (Zellweger)	Wide anterior fontanel, Large posterior fontanelle, Death in infancy	OMIM:614872
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Wide anterior fontanel, Ab...	ORPHA:163649
Ritscher-Schinzel Syndrome 3	Death in infancy, Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism, Wide anterior fo...	OMIM:619135
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel, Death in infancy	OMIM:618240
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Mandibular aplasia, Short nose...	ORPHA:1832
Acrofrontofacionasal Dysostosis 2	Wide anterior fontanel, Wide nose, Proptosis, Hypertelorism	OMIM:239710
Microcephaly-Microcornea Syndrome, Seemanova Type	Short stature, Growth delay, High palate, Narrow mouth, Microphthalmia	ORPHA:2528
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Larsen-Like Syndrome	Wide anterior fontanel, Hypertelorism, Dental malocclusion, Absent nasal bridge	OMIM:608545
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate	ORPHA:2432
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:600251
Sweeney-Cox Syndrome	Prominent metopic ridge, Choanal atresia, Micrognathia, Asplenia, Bilateral cryptorchidism, Paten...	OMIM:617746
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Scoliosis, Short nose, Convex nasal ridge	ORPHA:1695
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft	OMIM:611638
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Hypertelorism, Wide anterior f...	OMIM:616920
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an...	OMIM:614886
Rhizomelic Syndrome, Urbach Type	Wide anterior fontanel, Depressed nasal bridge, Micrognathia	ORPHA:3098
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
17Q21.31 Microduplication Syndrome	Short nose, Anteverted nares, Micrognathia	ORPHA:217340
Brachydactyly, Type B1	Wide anterior fontanel, Delayed eruption of permanent teeth, Delayed cranial suture closure	OMIM:113000
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate	OMIM:600776
Transaldolase Deficiency	Pancytopenia, Depressed nasal bridge, Splenomegaly, Patent ductus arteriosus, Wide anterior fonta...	OMIM:606003
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Wide anterior fontanel	OMIM:601356
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Depressed nasal bridge, Hypertelorism, Splenomegaly, Decreased proportion of CD8-po...	OMIM:619824
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Micrognathia, Wide anterior fontanel, Proptosis, Wormian bones	ORPHA:85184
Rhiny	Short nose, Anteverted nares	OMIM:180360
Mmep Syndrome	Microphthalmia, Median cleft lip, Orofacial cleft	ORPHA:3434
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Short nose, Scoliosis, Micrognathia	ORPHA:2598
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Cryptorchidism, Patent duc...	OMIM:217980
2Q24 Microdeletion Syndrome	Cleft palate, Growth delay, Abnormal oral frenulum morphology, Short philtrum, Microphthalmia	ORPHA:1617
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Bartsocas-Papas Syndrome 2	Wide anterior fontanel, Micrognathia	OMIM:619339
Saul-Wilson Syndrome	Narrow nasal bridge, Micrognathia, Wide anterior fontanel, Proptosis, Neutropenia, Convex nasal r...	OMIM:618150
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Kyphosis, Short nose, Scoliosis	ORPHA:2429
Fibrochondrogenesis 1	Depressed nasal bridge, Anteverted nares, Wide anterior fontanel, Widely patent coronal suture, S...	OMIM:228520
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Autosomal Recessive Cutis Laxa Type 2A	Persistent open anterior fontanelle, Prominent nasal bridge, Wide anterior fontanel, Prominent na...	ORPHA:357058
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Proptosis, Choanal stenosis, Lam...	OMIM:207410
Donnai-Barrow Syndrome	Depressed nasal bridge, Hypertelorism, Broad nasal tip, Wide anterior fontanel, Proptosis, Short ...	OMIM:222448
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Scoliosis	OMIM:618379
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2370
Ritscher-Schinzel Syndrome 2	Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Wide anterior fontanel, Convex nasal ridge	OMIM:300963
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Depressed nasal bridge, Anteverted nares, Increased intervertebral s...	OMIM:618961
Marden-Walker Syndrome	Anteverted nares, Hypertelorism, Micrognathia, Cryptorchidism, Wide anterior fontanel	OMIM:248700
Osteogenesis Imperfecta, Type Iii	Wormian bones, Wide anterior fontanel, Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Depressed nasal bridge, Hypertelorism, Recurrent upper respiratory tract infect...	OMIM:614069
Tetrasomy 5P	Anteverted nares, Micrognathia, Hypertelorism, Wide anterior fontanel, Wide nasal bridge, Short nose	ORPHA:3309
Hartsfield Syndrome	Encephalocele, Non-midline cleft lip, Cleft palate, Microphthalmia, Intrauterine growth retardation	ORPHA:2117
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Zellweger Syndrome	Death in infancy, Depressed nasal bridge, Micrognathia, Cryptorchidism, Wide anterior fontanel, P...	ORPHA:912
Fibrochondrogenesis	Depressed nasal bridge, Anteverted nares, Hypertelorism, Wide anterior fontanel, Proptosis	ORPHA:2021
Thanatophoric Dysplasia Type 1	Wide anterior fontanel, Patent ductus arteriosus, Proptosis, Depressed nasal bridge	ORPHA:1860
Anencephaly 2	Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate	OMIM:619452
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Wide nose, Hyperlordosis, Depressed nasal ridge, Abnormal form of the vert...	ORPHA:2831
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef...	OMIM:613885
Gapo Syndrome	Anteverted nares, Depressed nasal bridge, Delayed closure of the anterior fontanelle, Micrognathi...	OMIM:230740
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Anteverted nares, Prominent nasal bridge, Delayed closure of the anter...	OMIM:607812
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Microph...	OMIM:601349
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Wide anterior fontanel, Hepatic periportal necrosis, Depressed nasal bridge	OMIM:231680
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ...	ORPHA:277
Seckel Syndrome 2	Short stature, Heart murmur, Growth delay, Microdontia, Microphthalmia, Microglossia	OMIM:606744
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Progeroid Syndrome, Petty Type	Mandibular prognathia, Wide anterior fontanel	ORPHA:2963
Van Maldergem Syndrome 2	Wide cranial sutures, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cryptorchi...	OMIM:615546
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Carious teeth, Wide anterior fontanel, Wormian bones	OMIM:269300
Immunodeficiency 13	Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, T lymphocytopenia, B ...	OMIM:615518
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios, Anal atresia, Narrow mouth	ORPHA:3469
Anauxetic Dysplasia 3	Wide anterior fontanel, Retrognathia, Depressed nasal bridge	OMIM:618853
Acromicric Dysplasia	Bulbous nose, Anteverted nares, Ovoid vertebral bodies, Short nose	ORPHA:969
Odontochondrodysplasia	Delayed eruption of teeth, Depressed nasal bridge, Platyspondyly, Scoliosis, Short nose, Retrogna...	ORPHA:166272
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares	ORPHA:1450
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Spina bifida occulta, Micrognathia	ORPHA:1514
Shprintzen-Goldberg Craniosynostosis Syndrome	Anteverted nares, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Wide...	OMIM:182212
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Retrognathia, Broad nasal tip	OMIM:613670
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Van Maldergem Syndrome 1	Wide cranial sutures, Micrognathia, Hypoplasia of the maxilla, Wide anterior fontanel, Hypertelor...	OMIM:601390
Mpdu1-Cdg	Wide anterior fontanel, Decreased response to growth hormone stimulation test	ORPHA:79323
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Large posterior fontanelle, Depressed nasal bridge, Micrognathia...	OMIM:617925
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele, Orofacial cleft	ORPHA:324416
Acrocephalopolydactyly	Short nose, Depressed nasal ridge, Short neck	ORPHA:221054
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Depressed nasal bridge, Choanal atresia, Sagittal craniosynostosis, Pancreatic cysts, Splenomegal...	OMIM:610199
Cutis Laxa, Autosomal Recessive, Type Iia	Carious teeth, Wide anterior fontanel, Short nose, Anteverted nares	OMIM:219200
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Cupped ribs, Platyspondyly, Short ribs, Short nose	OMIM:614524
Peroxisome Biogenesis Disorder 1A (Zellweger)	Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Wide ant...	OMIM:214100
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Cofs Syndrome	Microphthalmia, Everted lower lip vermilion, Short stature, Intrauterine growth retardation	ORPHA:1466
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Wide anterior fontanel, Brain abscess, Depressed nasal bridge	OMIM:616482
Congenital Disorder Of Glycosylation, Type If	Wide anterior fontanel, Death in infancy	OMIM:609180
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Anteverted nares, Hypertelorism, Cryptorchidism, Wide anterior f...	OMIM:300000
Intellectual Developmental Disorder, X-Linked 91	Short nose	OMIM:300577
Nanophthalmos	Microphthalmia	ORPHA:35612
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre...	OMIM:619510
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Abnormal dental enamel morphology, Micrognathia, Wide anterior fontan...	ORPHA:85199
Dubowitz Syndrome	Hypoparathyroidism, Delayed eruption of teeth, Depressed nasal bridge, Delayed cranial suture clo...	ORPHA:235
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate	OMIM:615524
Achondroplasia	Wide anterior fontanel, Depressed nasal bridge, Short nasal bridge, Anteverted nares	ORPHA:15
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti...	ORPHA:79345
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Persistent open anterior fontanelle, Micrognathia, Hypertelorism, Splenomegaly,...	OMIM:614866
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t...	ORPHA:1134
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Generalized lymphadenopathy, P...	OMIM:618986
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Abnormal vertebral epiphysis morphology, Short nose, Platyspondyly	ORPHA:90653
Monosomy 18P	Short stature, Lymphedema, Carious teeth, Cleft palate, Downturned corners of mouth, Hypertension...	ORPHA:1598
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Hydrolethalus	Anophthalmia, Polyhydramnios, Submucous cleft hard palate, Anencephaly, Gingival cleft, Cleft pal...	ORPHA:2189
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Abnormality of the vertebral column, Short nose, Short nasal septum	OMIM:302950
Baker-Gordon Syndrome	Prominent nasal tip, Short nose, Scoliosis	OMIM:618218
17P13.3 Microduplication Syndrome	Wide nose, Short nose, Short neck	ORPHA:217385
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Pierpont Syndrome	Smooth philtrum, Short stature, Prominent median palatal raphe, Thin vermilion border, Widely spa...	OMIM:602342
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia, Cleft palate	OMIM:164180
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Missing ribs, Choanal sten...	OMIM:619859
Microphthalmia, Syndromic 13	Microphthalmia, Short stature, Widely-spaced incisors	OMIM:300915
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress...	ORPHA:1529
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Wide nasal bridge, Scoliosis, Short nose	OMIM:618577
14Q11.2 Microdeletion Syndrome	Short nose, Depressed nasal bridge, Micrognathia	ORPHA:261120
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Short neck, Progressive intervertebral...	ORPHA:1716
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Chromosome 6Q11-Q14 Deletion Syndrome	Sacral dimple, Prominent nasal bridge, Short neck, Broad nasal tip, Micrognathia, Short nose	OMIM:613544
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, Microphthalmia, High palate, Cleft palate	ORPHA:1135
Pierpont Syndrome	Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Widely spaced teeth, Everted lo...	ORPHA:487825
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Cat-Eye Syndrome	Microphthalmia, Short stature, Anal atresia, Intrauterine growth retardation	ORPHA:195
Codas Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morph...	ORPHA:1458
Alg9-Cdg	Microretrognathia, Prominent metopic ridge, Depressed nasal bridge, Micrognathia, Underdeveloped ...	ORPHA:79328
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Miller-Dieker Syndrome	Sacral dimple, Short nose, Anteverted nares	ORPHA:531
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616171
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Edema, Congestive heart failure, Cleft palate, Umbilical hernia, Long philtrum, Mi...	ORPHA:2505
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia	OMIM:601457
Craniosynostosis 4	Ectopic posterior pituitary, Depressed nasal bridge, Sagittal craniosynostosis, Hypertelorism, Pr...	OMIM:600775
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Peho-Like Syndrome	Short nose, Retrognathia	OMIM:617507
Multiple Acyl-Coa Dehydrogenase Deficiency	Wide anterior fontanel, Hepatic periportal necrosis, Depressed nasal bridge, Acute pancreatitis	ORPHA:26791
Nanophthalmos 4	Microphthalmia	OMIM:615972
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Frank-Ter Haar Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Broad nasal tip, Wide anterior fontanel, ...	OMIM:249420
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Punctate vertebral calcifi...	ORPHA:1914
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Verheij Syndrome	Vertebral fusion, Anteverted nares, Short neck, Broad nasal tip, Hemivertebrae, Wide nasal bridge...	OMIM:615583
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Wide anterior fontanel, Supernumerary tooth, Delayed eruption of prima...	OMIM:620099
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag...	ORPHA:2791
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Achondrogenesis Type 1B	Anteverted nares, Micrognathia, Short neck, Abnormal rib morphology, Short nose	ORPHA:93298
Opitz-Kaveggia Syndrome	Choanal atresia, Delayed closure of the anterior fontanelle, Prominent nose, Micrognathia, Crypto...	OMIM:305450
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Wide anterior fontanel, Recurrent mandibular subluxations, Delayed closure of the anterior fontan...	OMIM:225410
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Meckel Syndrome, Type 2	Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Microphthalmia, In...	OMIM:603194
3Mc Syndrome 1	Supernumerary nipple, Hypertelorism, Wide anterior fontanel, Patent ductus arteriosus, Lambdoidal...	OMIM:257920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Braddock-Carey Syndrome 2	Wide mouth, Microphthalmia, Pierre-Robin sequence, Cleft palate	OMIM:619981
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia	OMIM:611561
Even-Plus Syndrome	Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Coronal cleft vertebrae, ...	OMIM:616854
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Cleft palate, Hypoplasia of teeth, Heart murmur, Widely spaced teet...	ORPHA:2728
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Wide anterior fontanel, Short nose, Supernumerary nipple	ORPHA:457279
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Short nose, Scoliosis, Micrognathia	OMIM:615419
Diamond-Blackfan Anemia 8	Macrocytic anemia, Hypertelorism, Wide nasal bridge, Increased mean corpuscular volume, Neutropen...	OMIM:612563
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Short stature, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia	OMIM:614583
Ogden Syndrome	Large posterior fontanelle, Micrognathia, Iron deficiency anemia, Deeply set eye, Polycythemia, M...	OMIM:300855
Achondrogenesis Type 1A	Multiple rib fractures, Anteverted nares, Micrognathia, Short neck, Short nose	ORPHA:93299
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge	ORPHA:438178
Restrictive Dermopathy 1	Natal tooth, Depressed nasal bridge, Choanal atresia, Narrow nasal ridge, Micrognathia, Hypertelo...	OMIM:275210
Osteogenesis Imperfecta, Type Viii	Wormian bones, Wide anterior fontanel, Proptosis, Dentinogenesis imperfecta	OMIM:610915
Trigonocephaly 1	Short nose, Lumbar hemivertebrae, Wide nasal bridge	OMIM:190440
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Achondrogenesis	Short nose, Micrognathia, Anteverted nares, Short neck	ORPHA:932
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Dermotrichic Syndrome	Short nose, Depressed nasal bridge, Abnormal vertebral morphology	ORPHA:99688
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Sacral dimple, Depressed nasal bridge, Anteverted nares, Abnormality of de...	ORPHA:1327
Robinow Syndrome, Autosomal Recessive 1	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Cryptorchidism, Wide anter...	OMIM:268310
Congenital Disorder Of Glycosylation, Type Iu	Short nose, Scoliosis, Micrognathia	OMIM:615042
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Abnormality of the dentition, Conical tooth, Microphthalmia, Intrauterine growth r...	ORPHA:228390
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Short nose, Delayed eruption of permanent teeth, Anteverted nares	OMIM:618506
Osteogenesis Imperfecta, Type Vii	Death in infancy, Wide cranial sutures, Wide anterior fontanel, Proptosis, Wormian bones, Dentino...	OMIM:610682
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Biemond Syndrome Type 2	Microphthalmia, Short stature, Delayed puberty	ORPHA:141333
Congenital Toxoplasmosis	Microphthalmia, Ascites, Intrauterine growth retardation	ORPHA:858
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Harel-Yoon Syndrome	Mandibular prognathia, Short nose, Scoliosis, Micrognathia	OMIM:617183
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Femoral-Facial Syndrome	Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Vertebral segmenta...	ORPHA:1988
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Increased circulating IgM ...	OMIM:242860
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Meier-Gorlin Syndrome 7	Choanal atresia, Sagittal craniosynostosis, Craniosynostosis, Cryptorchidism, Wide anterior fonta...	OMIM:617063
Rubinstein-Taybi Syndrome 1	Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Prominent nose, Deeply set eye...	OMIM:180849
Fontaine Progeroid Syndrome	Mandibular prognathia, Death in infancy, Absent nipple, Depressed nasal bridge, Craniosynostosis,...	OMIM:612289
Perlman Syndrome	Anteverted nares, Micrognathia, Wide nasal bridge, Short nose, Retrognathia	ORPHA:2849
Potocki-Shaffer Syndrome	Short nose, Wide nasal bridge, Underdeveloped nasal alae	OMIM:601224
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Microphthalmia, Abnormal left ventricular function, Cardiomyopathy	OMIM:613155
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop...	ORPHA:950
Frontonasal Dysplasia 1	Median cleft lip, Anterior basal encephalocele, Widely-spaced maxillary central incisors, Cranium...	OMIM:136760
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Micrognathia, Supernumerary ribs, Short nose, Retrognathia	ORPHA:163961
Trisomy 13	Anophthalmia, Median cleft lip, Abnormality of the dentition, High, narrow palate, Hydrops fetali...	ORPHA:3378
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Depressed nasal bridge, Choanal atresi...	ORPHA:95699
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Mend Syndrome	Prominent nasal bridge, Micrognathia, Hypertelorism, Cryptorchidism, Wide anterior fontanel, Abno...	ORPHA:401973
Fetal Alcohol Syndrome	Thin upper lip vermilion, Short stature, Non-midline cleft lip, Cleft palate, Microdontia, Microp...	ORPHA:1915
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Short stature, Pulmonary arterial hypertension, Long philtrum	OMIM:300887
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, High palate, Oligohydramnios	OMIM:619053
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Warburg Micro Syndrome 1	Microphthalmia, Thin vermilion border, Short stature, Narrow mouth	OMIM:600118
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Depressed nasal ridge, Thin ribs, Platyspondyly, Short nose	OMIM:300863
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Spinal canal stenosis, Short nose	OMIM:614613
Fetal Trimethadione Syndrome	Short nose, Depressed nasal bridge, Scoliosis, Micrognathia	ORPHA:1913
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal...	OMIM:608022
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Short nose, Abnormal intervertebral disk morphology, Anteverted nares	ORPHA:2701
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Short stature	OMIM:610023
Acrocallosal Syndrome	Mandibular prognathia, Microretrognathia, Persistence of primary teeth, Hypertelorism, Cryptorchi...	OMIM:200990
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Wide anterior fontanel, Broad nasal tip, Anteverted nares, Micrognathia	OMIM:618548
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short nose, Intervertebral space narrowing, Wide nasal bridge, Micrognathia	OMIM:614078
Immunodeficiency 17	Death in infancy, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chro...	OMIM:615607
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Prominent metopic ridge, Depressed nasal bridge, Craniosynostosis, Micrognathia, Pancreatic cysts...	OMIM:266920
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Micrognathia	ORPHA:1495
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Streak ovary, Micrognathia, Broad nasal tip, Wide anterior fontanel, H...	ORPHA:798
Craniosynostosis, Herrmann-Opitz Type	Short nose, Abnormal rib morphology, Convex nasal ridge, Micrognathia	ORPHA:2145
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Cleft palate, Microphthalmia, Intrauterine growth retard...	OMIM:611134
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Anteverted nares, Short neck, Short ribs, Short nose, Dysplast...	OMIM:613320
Chung-Jansen Syndrome	Short nose, Anteverted nares, Micrognathia	OMIM:617991
Lethal Kniest-Like Dysplasia	Wide anterior fontanel	ORPHA:2347
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Growth delay, Microphthalmia, Intrau...	ORPHA:85284
Schneckenbecken Dysplasia	Ovoid vertebral bodies, Anterior rib cupping, Short neck, Platyspondyly, Stillbirth, Short ribs, ...	OMIM:269250
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Short nose, Low hanging columella	OMIM:617752
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Micrognathia, Depressed nasal ridge, Thin ribs, Platyspondyly, Short nose	ORPHA:163966
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Cleft pal...	OMIM:607597
Denys-Drash Syndrome	Neonatal death, Wide anterior fontanel, Ovarian gonadoblastoma	OMIM:194080
Boomerang Dysplasia	Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae	OMIM:112310
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:48431
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Thin vermilion border, Long philtrum, Microphthalmia, Intrauterine growth ...	ORPHA:1438
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Anteverted nares, Short neck, Beaded ribs, Micrognathia, Wide nasal bridg...	OMIM:616897
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Depressed nasal bridge, Kyphosis, Bulbous nose, Scoliosis, Short nose	ORPHA:261144
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Micrognathia, Bulbous nose, Wide nasal bridge, Short nose	OMIM:613604
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, High, narrow palate, Increased nuchal translucency, Cleft palate, Anter...	OMIM:618494
Temtamy Syndrome	Microphthalmia, Thick lower lip vermilion, Abnormal palate morphology	ORPHA:1777
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Meningocele, Cleft palate, Intracranial hemorrhage, Hy...	OMIM:614424
Solitary Median Maxillary Central Incisor	Anophthalmia, Short stature, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, So...	OMIM:147250
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ...	ORPHA:2712
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Distal Deletion 12Q	Unilateral cryptorchidism, Anteverted nares, Micrognathia, Wide anterior fontanel, Patent ductus ...	ORPHA:96149
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Short stature, Cleft upper lip, Postnatal growth retardation, Orofacial...	OMIM:243310
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Persistence of primary teeth...	OMIM:180700
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, Thoracic kyphosis, Scoliosis, S...	OMIM:620250
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Scoliosis, Advanced eruption of teeth, Shor...	OMIM:614753
Toriello-Carey Syndrome	Micrognathia, Cryptorchidism, Patent ductus arteriosus, Wide anterior fontanel, Short nose	ORPHA:3338
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Downturned corners of mouth, Microphthalmia, Rhizomelia, Short philtrum	ORPHA:93267
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Short columella, Short nose	ORPHA:171839
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Delayed closure of the anterior fontanelle, Hyperte...	OMIM:278250
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Short nose	OMIM:618828
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios, Duodenal stenosis	ORPHA:2547
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Depressed nasal bridge, Abnormal dental enamel morphology, Prominent nose,...	ORPHA:439822
Tetrasomy 18P	Short nose, Scoliosis	ORPHA:3307
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Prominent n...	ORPHA:391372
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Pallister-Hall-Like Syndrome	Short nose, Depressed nasal bridge, Short ribs, Micrognathia	OMIM:241800
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Neonatal death, Short nose	OMIM:610015
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Baller-Gerold Syndrome	Prominent nasal bridge, Sagittal craniosynostosis, Underdeveloped nasal alae, Micrognathia, Wide ...	OMIM:218600
Pterygium Colli, Isolated	Short nose	OMIM:177990
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Short nose, Depressed nasal bridge	ORPHA:2835
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Short nose, Wide nasal bridge, Scoliosis	OMIM:218000
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Micrognathia, Short neck, Underdeveloped nasal alae, Short nose	ORPHA:2083
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Kyphoscoliosis, Short neck, Micrognathia, Hypoplasia of teeth, Scoli...	ORPHA:391408
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Thin upper lip vermilion, Lymphedema, Deep philtrum, Thick lower lip vermilion, Long philtrum, Mi...	OMIM:152950
Tetrasomy 12P	Delayed eruption of teeth, Short nose, Anteverted nares, Short neck	ORPHA:884
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microdontia, Microphthalmia, Widely spaced teeth	OMIM:619694
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Short stature, Cleft upper lip, Deep philtr...	OMIM:612530
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Wide nose, Miscarriage, Anteverted nares, Depressed nasal bridge, Microgna...	ORPHA:96334
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Delayed eruption of permanent teeth, Anteverted nares, Micrognathia	OMIM:619356
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Polycythemia, Cryptorchidism, Splen...	ORPHA:116
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia	OMIM:614744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft upper lip, Lymphedema, Clef...	OMIM:153400
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Narrow mouth, Microphthalmia, Mild short stature	OMIM:614833
Subaortic Stenosis-Short Stature Syndrome	Microdontia, Microphthalmia, Arrhythmia, Short stature	ORPHA:3191
Smith-Magenis Syndrome	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Delayed eruption of primary teet...	ORPHA:819
Edinburgh Malformation Syndrome	Short nose, Anteverted nares, Choanal atresia, Micrognathia	ORPHA:1895
Fanconi Anemia, Complementation Group S	Macrodontia, Short stature, Dental malocclusion, Narrow palate, Microphthalmia, Thick upper lip v...	OMIM:617883
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Deep philtrum, Cleft palate, Downturned corners...	ORPHA:404440
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Short nose, Scoliosis, Micrognathia	ORPHA:496790
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Oculopalatocerebral Syndrome	Microphthalmia, Short stature, Cleft palate	OMIM:257910
Desbuquois Dysplasia 1	Microretrognathia, Depressed nasal bridge, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Co...	OMIM:251450
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation	OMIM:615665
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Carious teeth, Dehydration, Thin vermilion border, Long philtrum, Micr...	OMIM:214150
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Depressed nasal bridge, Short neck, Bulbous nose, Wide nasal bridge, Short...	ORPHA:369891
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Short nose, Depressed nasal bridge, Short neck	OMIM:608776
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short stature, Thin v...	ORPHA:85194
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Depressed nasal bridge, Micrognathia, Kyphosis, Bulbous nose, Wide nasal bridge, Scoliosis, Short...	OMIM:617061
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Short stature	OMIM:251270
Lymphatic Malformation 5	Facial edema, Predominantly lower limb lymphedema, Cleft palate	OMIM:153200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Short nose, Depressed nasal bridge	OMIM:616910
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, S...	OMIM:249620
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Encephalocele, Tented upper lip vermilion, Short ...	OMIM:619148
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Icf Syndrome	Depressed nasal bridge, Abnormality of neutrophils, Micrognathia, Hypertelorism, Decreased circul...	ORPHA:2268
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Short nose, Spina bifida occulta, Short neck	ORPHA:2983
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Anteverted nares, Anterior open-bite malocclusion, Short nose, Spina bifida occ...	OMIM:617877
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short nose	ORPHA:1389
Sandestig-Stefanova Syndrome	Microphthalmia, High palate, Orofacial cleft, Intrauterine growth retardation	OMIM:618804
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Anteverted nares, Wide nasal bridge, Scoliosis, Short nose, Broad columella,...	OMIM:619383
Intellectual Developmental Disorder, X-Linked 30	Short nose, Anteverted nares, Prominent nasal bridge	OMIM:300558
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Micrognathia, Hypertelorism, Wide anterior fontanel, Depressed nasal ridg...	OMIM:271665
Periventricular Nodular Heterotopia 7	Microretrognathia, Short nose, Anteverted nares, Micrognathia	OMIM:617201
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:613443
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularizatio...	ORPHA:891
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Short nose	OMIM:300143
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Depressed nasal bridge, Anteverted nares, Prominent nose, Wide nasal bridge, Scoliosis, Short nose	OMIM:618316
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Hypoplastic sacrum, Anteverted nares, Depressed nasal bridge, Short nec...	OMIM:200600
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Microphthalmia, Tricuspid regurgitation, Smooth philtrum	OMIM:618652
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Cebalid Syndrome	Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge	OMIM:618774
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper...	OMIM:608670
Frontofacionasal Dysplasia	Encephalocele, Short stature, Non-midline cleft lip, Cleft palate, Microphthalmia	ORPHA:1791
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Scoliosis, Short nose, Retrognathia	ORPHA:561
Microphthalmia With Limb Anomalies	Anophthalmia, Cleft upper lip, Postnatal growth retardation, Deep philtrum, Cleft palate, Growth ...	OMIM:206920
Trichothiodystrophy 3, Photosensitive	Natal tooth, Short stature, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel div...	OMIM:616395
Ruvalcaba Syndrome	Kyphosis, Scoliosis, Abnormal vertebral epiphysis morphology, Short nose, Convex nasal ridge	ORPHA:3121
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Short stature, Unilateral microphthalmos, Anal atresia	OMIM:619318
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Smooth philtrum	OMIM:602501
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:290
3C Syndrome	Depressed nasal bridge, Short neck, Missing ribs, Kyphosis, Micrognathia, Hemivertebrae, Wide nas...	ORPHA:7
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Cerebrofaciothoracic Dysplasia	Wide nose, Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Scoliosis, Bifid...	ORPHA:1394
Trisomy 12P	Short nose, Micrognathia, Wide nasal bridge, Short neck	ORPHA:1699
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Kyphoscoli...	OMIM:271510
Campomelic Dysplasia	Depressed nasal bridge, Micrognathia, Carious teeth, Wide anterior fontanel, Hypertelorism, Recur...	OMIM:114290
Microphthalmia, Syndromic 5	Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft palate, Microphthalmia	OMIM:610125
Waardenburg Syndrome Type 1	Mandibular prognathia, Underdeveloped nasal alae, Wide nasal bridge, Scoliosis, Short nose	ORPHA:894
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Microphthalmia	OMIM:614105
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Wide nasal bridge, Broad nasal tip	OMIM:615716
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Int...	ORPHA:1908
Wildervanck Syndrome	Meningocele	ORPHA:3456
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, High, narrow palate, Deep philtrum, Pyloric stenosis, Cleft palate, Dow...	ORPHA:435638
Gracile Bone Dysplasia	Short stature, Aniridia, Microphthalmia, Ascites, Ankyloglossia	OMIM:602361
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Bulbous nose, Depressed nasal bridge, Short nose, Scoliosis	OMIM:618430
Galloway-Mowat Syndrome 3	Short stature, Edema, Hiatus hernia, Hypertension, High palate, Narrow mouth, Microphthalmia, Int...	OMIM:617729
Congenital Fibrinogen Deficiency	Tachycardia, Gingival bleeding, Microphthalmia, Volvulus, Internal hemorrhage	ORPHA:335
Aarskog-Scott Syndrome	Anteverted nares, Short neck, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Cerv...	OMIM:305400
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short stature, Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mouth, Long philtrum...	OMIM:618571
Temtamy Syndrome	Aortic regurgitation, Dental crowding, Hypoplasia of teeth, Long philtrum, Microphthalmia	OMIM:218340
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies...	ORPHA:3258
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Esophageal atresia, Cleft soft palate, Smooth philtrum	OMIM:614526
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Postnatal growth retardation, Thin vermilion border, Severe intrauterin...	OMIM:241410
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Hyperlordosis, Underdeveloped nasal alae, Hypoplas...	OMIM:616007
Cerebrooculofacioskeletal Syndrome 2	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:610756
Autosomal Dominant Omodysplasia	Short nose, Depressed nasal bridge, Micrognathia	ORPHA:93328
Otopalatodigital Syndrome, Type Ii	Depressed nasal bridge, Delayed closure of the anterior fontanelle, Micrognathia, Hypertelorism, ...	OMIM:304120
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B...	ORPHA:1942
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Poly...	ORPHA:2059
9q subtelomeric deletion syndrome	Short nose, Anteverted nares	DECIPHER:52
Lowry-Maclean Syndrome	Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Talo...	ORPHA:2409
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Scoliosis, Short nose, Micrognathia	OMIM:615851
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Cleft palate, Furrowed tongue, Pulmonary arterial hypertension, High ...	OMIM:616449
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Chromosome 1P36 Deletion Syndrome, Distal	Depressed nasal bridge, Delayed closure of the anterior fontanelle, Hypertelorism, Cryptorchidism...	OMIM:607872
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Prominent nose, Micrognathia, Bulbous nose, Depressed nasal ridge, Hemiver...	OMIM:156200
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Exaggerated cupid's bow, Cleft lip, Deep philtrum, Cleft palate, Short philtrum, Thick vermilion ...	OMIM:620098
Atelosteogenesis, Type I	11 pairs of ribs, Depressed nasal bridge, Short neck, Thoracic platyspondyly, Micrognathia, Fused...	OMIM:108720
Rodrigues Blindness	Microphthalmia, Tooth malposition, Short stature	OMIM:268320
Turnpenny-Fry Syndrome	Mandibular prognathia, Prominent nasal tip, Wide anterior fontanel, Patent ductus arteriosus, Den...	OMIM:618371
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares	OMIM:619854
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Joubert Syndrome 37	Microphthalmia, High palate, Short stature	OMIM:619185
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Short nose, Scoliosis	ORPHA:544503
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Anterior rib cupping, Short neck, Hypoplasia of the odo...	OMIM:258480
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Kyphoscoliosis, Short neck, Underdeveloped nasal alae, Wide nasal bridge, ...	OMIM:193700
Developmental And Epileptic Encephalopathy 75	Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
Costello Syndrome	Depressed nasal bridge, Anteverted nares, Hypertelorism, Micrognathia, Wide anterior fontanel	OMIM:218040
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Nance-Horan Syndrome	Microphthalmia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
5Q14.3 Microdeletion Syndrome	Short nose, Anteverted nares	ORPHA:228384
Microcephaly-Micromelia Syndrome	Oligohydramnios, Cleft palate, Narrow mouth, Microphthalmia, Intrauterine growth retardation	OMIM:251230
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short nose, Depressed nasal bridge, Scoliosis, Micrognathia	OMIM:619833
Micro Syndrome	Anteverted nares, Micrognathia, Kyphosis, Wide nasal bridge, Scoliosis, Short nose	ORPHA:2510
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Anteverted nares, Vertebral clefting, Hemivertebrae, Wide nasal bridge, Enamel agenesis, Short nose	OMIM:614701
3Q29 Microduplication Syndrome	Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anus, High palate, Aniridia, M...	ORPHA:251038
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia, Pulmonic stenosis	OMIM:618914
Bainbridge-Ropers Syndrome	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa...	OMIM:615485
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Macroglossia, Cardiomyopathy, Microphthalmia	ORPHA:370959
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Short nose, Dental malocclusion, Scoliosis, Micrognathia	ORPHA:329178
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Spina bifida occulta, Anteverted nares	ORPHA:1185
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Anteverted nares, Block vertebrae, Short neck, Broad nasal tip, Hyperlordosis, ...	OMIM:272460
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Peho Syndrome	Short nose, Retrognathia	OMIM:260565
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypoplasia of the zygomatic bone, Abnormal nostril morphology, Short nose, Anosmia	ORPHA:1295
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose	ORPHA:284169
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia	ORPHA:93329
Cat Eye Syndrome	Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palat...	OMIM:115470
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Abnormal rib morphology, Hypoplasia of the zygomatic bone, Sho...	ORPHA:83
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Micrognathia, Hypop...	OMIM:601812
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Prominent nasal bridge, Wide nasal bridge	ORPHA:401935
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Short nose, Depressed nasal bridge, Micrognathia	OMIM:617802
Macrocephaly-Intellectual Disability-Autism Syndrome	Short nose, Depressed nasal bridge	ORPHA:210548
Pontocerebellar Hypoplasia, Type 10	Kyphoscoliosis, Underdeveloped nasal alae, Short neck, Bulbous nose, Wide nasal bridge, Short nos...	OMIM:615803
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Micrognathia, Long...	ORPHA:508533
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Kyphosis, Carious teeth, Scoliosis, Short nose, Narrow nose, Narrow maxilla	OMIM:617602
Opsismodysplasia	Hypoplastic vertebral bodies, Short nose, Depressed nasal bridge, Abnormally ossified vertebrae	ORPHA:2746
Acromesomelic Dysplasia 1	Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu...	OMIM:602875
3Q29 Microdeletion Syndrome	Dental crowding, Abnormality of the dentition, Orofacial cleft, Pulmonary arterial hypertension, ...	ORPHA:65286
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Depressed nasal bridge, Thoracolumbar scoliosis, Short neck, Platyspondyly, Scoliosis, Short nose	OMIM:616723
Mosaic Trisomy 9	Intestinal malrotation, Polyhydramnios, Spina bifida, Hydrops fetalis, Cleft palate, High palate,...	ORPHA:99776
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L...	OMIM:615866
Moebius Syndrome	Microphthalmia, High palate, Bifid uvula, Abnormality of the dentition	OMIM:157900
20Q11.2 Microduplication Syndrome	Sacral dimple, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Abnormal nasal bridge...	ORPHA:363659
Teebi-Shaltout Syndrome	Short stature, High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Narrow mouth, Micropht...	OMIM:272950
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Narrow nasal ridge, Short neck, Prominent nose, Micrognathia, Short nose	ORPHA:363528
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Bulbous nose, Prominent nasal bridge, Short nose	OMIM:613870
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Short stature, Abnormality of the dentition, High,...	ORPHA:193
Non-Distal Duplication 13Q	Short nose, Micrognathia	ORPHA:1702
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Short stature	ORPHA:2788
Trisomy 20P	Anteverted nares, Short neck, Micrognathia, Kyphosis, Abnormal form of the vertebral bodies, Vert...	ORPHA:261318
Pfeiffer Syndrome	Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Choana...	OMIM:101600
Teebi Hypertelorism Syndrome 1	Natal tooth, Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Short nose	OMIM:145420
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Spina bifida, Proportionate short stature, High, narrow pa...	OMIM:234100
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Encephalocele, Portal hypertension, Esophageal varix, Pulmonary arte...	ORPHA:974
Stevenson-Carey Syndrome	Downturned corners of mouth, Microphthalmia, Pierre-Robin sequence, Narrow mouth	OMIM:611961
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Short stature, Hypoplasia of the primary teeth, Denta...	OMIM:257850
Trisomy 18	Short stature, Spina bifida, Esophageal atresia, Non-midline cleft lip, Anencephaly, Narrow palat...	ORPHA:3380
Martsolf Syndrome 1	Short stature, Cardiac arrest, Congestive heart failure, Cardiomyopathy, High palate, Short philt...	OMIM:212720
Acrofacial Dysostosis, Catania Type	Microretrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Short nose, Spina bifida occulta	ORPHA:1786
Kapur-Toriello Syndrome	Intestinal malrotation, Cleft upper lip, Cleft palate, Microphthalmia, Intrauterine growth retard...	OMIM:244300
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Prominent nasal bridge, Wide nasal bridge, Scoliosis	OMIM:619179
Frontonasal Dysplasia 2	Encephalocele, Conical tooth, Widely spaced teeth, Microphthalmia, Intrauterine growth retardatio...	OMIM:613451
Warburg Micro Syndrome 4	Short stature, Narrow mouth, Severe postnatal growth retardation, Long philtrum, Microphthalmia	OMIM:615663
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Micrognathia, Underdeveloped nasal alae, Carious teeth, Wide nasal bridge, Shor...	OMIM:613026
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Beaking of vertebral bodies, Vertebral fusion, Wide nose, Sacral dimple, Anteverted nares, Short ...	OMIM:213980
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Polyhydramnios, Orofacial cleft, Narrow mouth, Microphthalmia, Anal atresia	ORPHA:3301
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Short nose	OMIM:618087
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Polyhydramnios, Cleft palate, Orofacial cleft, Umbilical h...	ORPHA:2166
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Short nose, Depressed nasal bridge, Narrow naris	OMIM:122880
Leukodystrophy, Hypomyelinating, 10	Bulbous nose, Anteverted nares, Short nose	OMIM:616420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Peters-Plus Syndrome	Bilobate gallbladder, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, ...	OMIM:261540
Frontorhiny	Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Bifid...	ORPHA:391474
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Short stature, Unilateral microphthalmos, Bilateral cleft lip and palat...	OMIM:618874
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Sacral dimple, Wide nasal bridge, Short columella, Hypo...	OMIM:613603
Oculo-Palato-Cerebral Syndrome	Short stature, High, narrow palate, Cleft palate, Microphthalmia, Intrauterine growth retardation	ORPHA:2714
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Wide nose, Short nose	OMIM:614261
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Anteverted nares, Long nose, Bulbous nose, Absent nasal bridge, Short nose	ORPHA:261211
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia, Anal atresia, Agenesis of permanent teeth	OMIM:617244
Adams-Oliver Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:614219
Chromosome 8Q21.11 Deletion Syndrome	Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth, Growth delay, High palate, Sh...	OMIM:614230
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Advanced eruption of teeth, Short nose, Depressed nasal bridge, Broad columella	OMIM:617865
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Short nose, Depressed nasal bridge	OMIM:614732
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Broad nasal tip, Micrognathia, Wide nasal bridge, Scoliosis, Short nose	OMIM:300749
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Telangi...	ORPHA:464
Jaberi-Elahi Syndrome	Kyphosis, Short nose, Depressed nasal bridge, Scoliosis	OMIM:617988
Autosomal Recessive Cutis Laxa Type 1	Wide anterior fontanel, Delayed cranial suture closure	ORPHA:90349
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
16P12.1P12.3 Triplication Syndrome	Bulbous nose, Retrognathia, Short nose	ORPHA:485405
Vacterl With Hydrocephalus	Anophthalmia, Polyhydramnios, Spina bifida, Esophageal atresia, Tracheoesophageal fistula, Microp...	ORPHA:3412
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Scoliosis, Short nose	ORPHA:280200
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Robinow Syndrome, Autosomal Dominant 2	Sacral dimple, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Micrognathia, Dental mal...	OMIM:616331
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Short neck, Spinal rigidity, Micrognathia, Wide nasal bridge, Thin ribs, Scol...	OMIM:620369
Oculodentodigital Dysplasia	Narrow nasal bridge, Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, ...	ORPHA:2710
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Micrognathia, Kyphosis, Low ...	OMIM:619005
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta, Short stature	OMIM:169550
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Congenital kyphoscoliosis, Depressed nasal bridge, Anteverted nares, Ovoid vertebral bodies, Kyph...	ORPHA:536467
Prolidase Deficiency	Short nose, Concave nasal ridge, Depressed nasal bridge, Micrognathia	OMIM:170100
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Al-Raqad Syndrome	Short nose	OMIM:616459
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Micrognathia	ORPHA:1129
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Wide nose, Anteverted...	ORPHA:93357
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Short nose, Micrognathia	ORPHA:79113
Warburg Micro Syndrome 3	Short nose, Kyphoscoliosis, Micrognathia	OMIM:614222
Distal Deletion 10Q	Lumbar hyperlordosis, Prominent nasal bridge, Prominent nose, Micrognathia, Wide nasal bridge, Sh...	ORPHA:96148
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Short nose, Short neck	ORPHA:50810
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Aortic regurgitation, Short stature, Stomach cancer, Polyhydramnios, Increa...	ORPHA:1052
Poikiloderma With Neutropenia	Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Carious teeth, Recurrent sinusit...	OMIM:604173
Toluene Embryopathy	Short nose, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:1920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia	OMIM:613150
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Natal tooth, Rhizomelia, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete ...	OMIM:616300
C Syndrome	Anteverted nares, Micrognathia, Wide nasal bridge, Scoliosis, Short nose	OMIM:211750
Momo Syndrome	Delayed eruption of teeth, Short stature, Bilateral microphthalmos, Thick lower lip vermilion, De...	ORPHA:2563
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, High palate	ORPHA:139471
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ...	ORPHA:861
Severe X-Linked Intellectual Disability, Gustavson Type	Short nose, Recurrent upper respiratory tract infections, Micrognathia	ORPHA:3078
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:494344
Matthew-Wood Syndrome	Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis	ORPHA:2470
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Microphthalmia	ORPHA:77298
Mosaic Trisomy 1	Polyhydramnios, Increased nuchal translucency, Thick lower lip vermilion, Cleft palate, Orofacial...	ORPHA:1692
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Lumbar hyperlordosis, Prominent nasal bridge, Short neck, Micrognathia, Dental maloccl...	ORPHA:251028
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Micr...	ORPHA:2839
Bartsocas-Papas Syndrome	Short nose, Micrognathia, Underdeveloped nasal alae	ORPHA:1234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short nose, Retrognathia, Wide nasal bridge, Kyphoscoliosis	OMIM:618005
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Carious teeth, Enamel hypoplasi...	OMIM:164200
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Wide nasal bri...	ORPHA:560
Skin Creases, Congenital Symmetric Circumferential, 1	Narrow mouth, Cleft palate, High palate, Long philtrum, Microphthalmia	OMIM:156610
Raine Syndrome	Mandibular prognathia, Natal tooth, Depressed nasal bridge, Choanal atresia, Short neck, Microgna...	OMIM:259775
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Kyphosis, Hemive...	OMIM:301040
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Anteverted nares, Short nose, Scoliosis	OMIM:615398
Walker-Warburg Syndrome	Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula	ORPHA:899
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Delayed eruption of primary teeth, Dilated cardiomyopathy, Ventricular tachycardi...	OMIM:300952
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Occipital meningocele, Bilateral cleft lip, Bilateral m...	OMIM:610828
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Micrognathia, Kyphosis, Dent...	OMIM:616894
8P23.1 Microdeletion Syndrome	Prominent nasal bridge, Micrognathia, Short neck, Wide nasal bridge, Short nose	ORPHA:251071
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Beaking of vertebral bodies, Depressed nasal bridge, Thoracolumbar scoliosis, Kyphoscoliosis, Sho...	ORPHA:457395
8Q21.11 Microdeletion Syndrome	Exaggerated cupid's bow, Abnormality of the dentition, Downturned corners of mouth, High palate, ...	ORPHA:284160
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Cervical kyphosis, Kyphoscoliosis, Prominent nasolabial fold, Scoliosis, Short...	ORPHA:2953
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ...	ORPHA:2250
Otopalatodigital Syndrome, Type I	Short nose, Multiple impacted teeth, Wide nasal bridge, Scoliosis	OMIM:311300
Carey-Fineman-Ziter Syndrome	Short nose, Anteverted nares, Scoliosis, Micrognathia	ORPHA:1358
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Micrognathia, Broad nasal tip, Wide nasal bridge, Short nose	OMIM:618529
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose	OMIM:615539
Nance-Horan Syndrome	Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc...	OMIM:302350
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Wide nasal bridge, Scoliosis, Broad nasal tip	OMIM:614207
Holoprosencephaly 9	Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft upper lip, Agenesis of incisor, Dental...	OMIM:610829
Chondrodysplasia Punctata, Autosomal Dominant	Hypoplasia of the nasal bone	OMIM:118650
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Platyspondyly, Macrodontia of permanent m...	OMIM:154780
Distal Deletion 9P	Short nose, Wide nasal bridge, Short neck	ORPHA:1642
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Retrognathia, Anteverted nares, Hypoplasia of teeth	OMIM:234050
Vitreoretinochoroidopathy	Microphthalmia, Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Fanconi Anemia, Complementation Group I	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:609053
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short philtrum, Short stature	OMIM:610758
Robinow Syndrome	Fused thoracic vertebrae, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Broad nasal t...	ORPHA:97360
Acrofrontofacionasal Dysostosis 1	Short stature, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Microphthalmia	OMIM:201180
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Short nose, Anteverted nares, Platyspondyly, Scoliosis	OMIM:612394
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Long nose, Short nose, Depressed nasal bridge, Scoliosis	OMIM:618590
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Microphthalmia, Anal atresia, Intrauterine growth retardation	ORPHA:1352
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ...	ORPHA:464738
Meckel Syndrome 14	Occipital encephalocele, Tricuspid regurgitation, Increased nuchal translucency, Mitral regurgita...	OMIM:619879
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro...	OMIM:618727
Atelis Syndrome 2	Diastema, Thick lower lip vermilion, Supravalvar pulmonary stenosis, Downturned corners of mouth,...	OMIM:620185
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Micrognathia, Kyphosis, Eruption failure, Scoliosis, Short nose	ORPHA:476126
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdev...	OMIM:300912
Developmental Delay With Or Without Dysmorphic Facies And Autism	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Micrognathia, Bulbous nose, Wid...	OMIM:618454
Dubowitz Syndrome	Delayed eruption of teeth, Short stature, Carious teeth, Postnatal growth retardation, Velopharyn...	OMIM:223370
Pallister-Killian Syndrome	Delayed eruption of teeth, Anhidrosis, Anteverted nares, Depressed nasal bridge, Supernumerary ni...	OMIM:601803
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Short stature, Abnormality of the dentitio...	ORPHA:568
Galloway-Mowat Syndrome 1	Short stature, Hiatus hernia, Hypoplasia of the iris, Wide mouth, High palate, Microphthalmia, In...	OMIM:251300
Stuve-Wiedemann Syndrome 1	Anteverted nares, Ovoid vertebral bodies, Short neck, Micrognathia, Carious teeth, Thin ribs, Sco...	OMIM:601559
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia	ORPHA:314655
Marshall-Smith Syndrome	Microretrognathia, Thoracic scoliosis, Prominence of the premaxilla, Depressed nasal bridge, Ante...	OMIM:602535
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Short neck, Micrognathia, Short sternum, Sho...	OMIM:257300
Kapur-Toriello Syndrome	Microphthalmia, Intestinal malrotation, Orofacial cleft	ORPHA:2328
Au-Kline Syndrome	Sacral dimple, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal t...	OMIM:616580
Blomstrand Lethal Chondrodysplasia	Natal tooth, Depressed nasal bridge, Anteverted nares, Micrognathia, Platyspondyly, Short ribs, S...	ORPHA:50945
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Anteverted nares, Micrognathia, Neonatal death, Short nose, Retrognathia	OMIM:608013
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia	OMIM:617822
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choan...	OMIM:166250
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Anteverted nares, Broad nasal tip, Prominent nose, Short neck, Micrognathia,...	ORPHA:177907
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Short stature, Abnormality of the dentition	ORPHA:1806
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Triploidy	Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Hypoplasia of the zygomatic bone, Shor...	ORPHA:1812
Ohdo Syndrome, X-Linked	Hiatus hernia, Thin vermilion border, High palate, Widely spaced teeth, Narrow mouth, Microdontia...	OMIM:300895
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Gingivitis, Dehydration, Periodontitis, Short stature, Abnormal d...	ORPHA:534
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Anteverted nares, Choanal atresia, Micrognathia	OMIM:610536
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Scoliosis, Advanced eruption ...	ORPHA:261494
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Short nose	OMIM:613038
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Microphthalmia, High palate, Short stature	ORPHA:35173
Pallister-Hall Syndrome	Natal tooth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Hemivertebrae, Rib fusion...	OMIM:146510
Nablus Mask-Like Facial Syndrome	Depressed nasal bridge, Anteverted nares, Short neck, Hypoplasia of the maxilla, Wide nasal bridg...	OMIM:608156
Fanconi Anemia, Complementation Group F	Short stature, Polyhydramnios, Duodenal atresia, Microphthalmia, Intrauterine growth retardation	OMIM:603467
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:616430
Baller-Gerold Syndrome	Narrow nasal bridge, Prominent nasal bridge, Micrognathia, Scoliosis, Short nose	ORPHA:1225
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Short nose, Wide nasal bridge, Broad nasal tip	OMIM:239300
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Anteverted nares, Short neck, Micrognathia, Bulbous nose, Dental malocclu...	OMIM:115150
Down Syndrome	Depressed nasal bridge, Depressed nasal ridge, Short nose, Short neck	ORPHA:870
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Polyhydramnios, Edema, Postnatal growth retardation, Microphthalmia	OMIM:302960
Cadds	Short nose, Micrognathia	ORPHA:369942
Focal Dermal Hypoplasia	Abnormal dental morphology, Abnormal dental enamel morphology, Telangiectasia of the skin, Abnorm...	ORPHA:2092
Refsum Disease	Heart block, Microphthalmia, Cardiomyopathy	ORPHA:773
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Micrognathia, Short neck, Short nose, Retrognathia	OMIM:608779
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Umbilical hernia,...	ORPHA:77301
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
1Q21.1 Microdeletion Syndrome	Short stature, High palate, Long philtrum, Microphthalmia, Ankyloglossia, Intrauterine growth ret...	ORPHA:250989
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Anteverted nares, Ovoid vertebral bodies, Micrognathia, Carious teeth, Sh...	OMIM:244450
Autosomal Recessive Robinow Syndrome	Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Micrognathia, Kyphosis, Supe...	ORPHA:1507
Hallermann-Streiff Syndrome	Natal tooth, Proportionate short stature, Abnormality of the dentition, High, narrow palate, Supe...	ORPHA:2108
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Anteverted nares, Underdeveloped nasal alae	ORPHA:2031
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Maxillozygomatic hypoplasia, Choanal stenosis, Short nose	ORPHA:1790
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Junctional ectopic tachycardia, Cleft palate, Anteriorly placed anus, Colonic atre...	OMIM:309801
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Abnormal nostril morphology, Short nose, Underdeveloped nasal alae	ORPHA:2315
Distal Duplication 5Q	Carious teeth, Short nose, Prominent nasal bridge, Micrognathia	ORPHA:96097
Cousin Syndrome	Rhizomelia, Disproportionate short stature, Alveolar ridge overgrowth, Cleft palate, Hydranenceph...	OMIM:260660
Pseudotrisomy 13 Syndrome	Encephalocele, Cleft upper lip, Microphthalmia, Anal atresia, Median cleft lip and palate	OMIM:264480
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Edema, Retinal hemorrhage, Hypoplasia of the iris...	OMIM:609049
Weiss-Kruszka Syndrome	Short nose, Anteverted nares	OMIM:618619
Meckel Syndrome, Type 1	Anal atresia, Thin upper lip vermilion, Natal tooth, Occipital encephalocele, Intestinal malrotat...	OMIM:249000
Fetal Hydantoin Syndrome	Short nose, Depressed nasal ridge	ORPHA:1912
Temtamy Preaxial Brachydactyly Syndrome	Hypoplasia of the maxilla, Short nose, Talon cusp, Micrognathia	ORPHA:363417
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Sacral dimple, Anteverted nares, Micrognathia, Wide nasal bridge, Shor...	OMIM:247200
Holoprosencephaly	Encephalocele, Anophthalmia, Median cleft lip, Bilateral cleft lip, Median cleft lip and palate, ...	ORPHA:2162
2Q31.1 Microdeletion Syndrome	Short stature, Deep philtrum, Cleft palate, Downturned corners of mouth, Thin vermilion border, E...	ORPHA:251014
Lathosterolosis	Abnormal thoracic spine morphology, Anteverted nares, Micrognathia, Bulbous nose, Short nose	ORPHA:46059
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Short stature, Malabsorption, Telangiectasia, Microphthalmia, Triangular ...	OMIM:601675
Autosomal Dominant Robinow Syndrome	Wide nose, Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Micrognathia, Sup...	ORPHA:3107
Rhombencephalosynapsis	Microretrognathia, Short nose, Anteverted nares	ORPHA:59315
Yunis-Varon Syndrome	Polyhydramnios, High, narrow palate, Hydrops fetalis, Broad secondary alveolar ridge, Glossoptosi...	ORPHA:3472
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Hypoplasia of teeth, Narrow nasal ridge, Micrognathia	OMIM:608612
Stromme Syndrome	Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Cleft palate, Wide mouth, Microp...	OMIM:243605
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Micrognathia, Abnormal rib...	ORPHA:261112
Curry-Jones Syndrome	Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intestinal malrotation, Lip ...	OMIM:601707
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Long philtrum	OMIM:615145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Micrognathia, Abnormal rib morphology, Scoliosis, Short nose, Abnormal ve...	ORPHA:90652
Neu-Laxova Syndrome 1	Polyhydramnios, Cleft upper lip, Swollen lip, Spina bifida, Thick lower lip vermilion, Cleft pala...	OMIM:256520
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Anteverted nares, Prominent nasal bridge, Trismus, Dental malocclusion, Short nose	OMIM:227330
Autosomal Recessive Spondylocostal Dysostosis	Umbilical hernia, Meningocele, Spina bifida occulta, Intrauterine growth retardation	ORPHA:2311
Spondylodysplastic Ehlers-Danlos Syndrome	Beaking of vertebral bodies, Abnormality of the temporomandibular joint, Congenital kyphoscoliosi...	ORPHA:536471
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose	ORPHA:2557
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Micrognathia, Bul...	OMIM:613458
Myhre Syndrome	Thin upper lip vermilion, Short stature, Pericardial effusion, Cleft lip, Cleft palate, Birth len...	OMIM:139210
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Short stature, Polyhydramnios, Carious tee...	OMIM:620186
Cerebrocostomandibular Syndrome	Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth retardation	ORPHA:1393
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Meningoencephalocele, Cleft pal...	OMIM:236670
Papillorenal Syndrome	Microphthalmia, Short stature, Hypertension, Edema	OMIM:120330
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Micrognathia, Short neck, Wide nasal bridge, Short nose	ORPHA:2282
Fountain Syndrome	Spina bifida occulta, Spina bifida	ORPHA:3219
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Fanconi Anemia	Aganglionic megacolon, Short stature, Spina bifida, Aplasia/Hypoplasia of the uvula, Tracheoesoph...	ORPHA:84
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Anteverted nares, Short neck, Hypoplasia of the zygomatic bone, Scoliosis...	ORPHA:1340
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation	ORPHA:2399
Coffin-Siris Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Recurrent u...	ORPHA:1465
Desmosterolosis	Depressed nasal bridge, Micrognathia, Abnormality of the nose, Short nose, Retrognathia	ORPHA:35107
Fanconi Anemia, Complementation Group L	Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Growth delay, Microphthalmia, Anal a...	OMIM:614083
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Micrognathia, Scoliosis, Short nose	ORPHA:109
Meckel Syndrome	Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Anencephaly, Cleft palate, Furrowe...	ORPHA:564
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Adenylosuccinase Deficiency	Short nose, Anteverted nares	OMIM:103050
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Short stature	OMIM:617306
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Kyphoscoliosis, Microgn...	OMIM:268400
Incontinentia Pigmenti	Hypoplasia of the fovea, Delayed eruption of teeth, Short stature, Conical tooth, Retinal hemorrh...	OMIM:308300
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Short nose, Hypoplasia of the ...	OMIM:229400
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Anteverted nares	OMIM:613735
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Anophthalmia, Short stature, Persistence of primary teeth, Supernumera...	OMIM:300166
22Q11.2 Deletion Syndrome	Polyhydramnios, Short philtrum, Short stature, Abnormal dental enamel morphology, Spina bifida, N...	ORPHA:567
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Anteverted nares, Broad nasal tip, Carious teeth, Prominent nasolabial fold, Short nose	ORPHA:357074
Curry-Jones Syndrome	Microphthalmia, Intestinal malrotation	ORPHA:1553
Trisomy 10P	Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Micrognathia, Hemivertebrae, S...	ORPHA:171929
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Growth delay	OMIM:120200
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Severe short stature, Edema, Lymphedema, Thick vermilion border, Chylothorax, Long ...	ORPHA:2526
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Short nose, Micrognathia	OMIM:617527
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Wide nasal bridge, Broad nasal tip	OMIM:614749
Coffin-Lowry Syndrome	Mandibular prognathia, Wide nose, Bifid sternum, Anteverted nares, Kyphosis, Dental malocclusion,...	OMIM:303600
Plaa-Associated Neurodevelopmental Disorder	Kyphosis, Short nose, Micrognathia	ORPHA:521426
Lathosterolosis	Anteverted nares, Lumbosacral meningocele, Micrognathia, Wide nasal bridge, Short nose, Butterfly...	OMIM:607330
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Roberts Syndrome	Polyhydramnios, Cleft upper lip, Postnatal growth retardation, Cleft palate, High palate, Severe ...	ORPHA:3103
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrops fetalis, Tracheoesophageal fistula, Orofacial cleft	ORPHA:268249
Chops Syndrome	Cervical C2/C3 vertebral fusion, Short nose, Anteverted nares	OMIM:616368
Van Esch-O'Driscoll Syndrome	Sacral dimple, Depressed nasal bridge, Retrognathia, Scoliosis, Short nose, Spina bifida occulta	OMIM:301030
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	OMIM:248450
Fryns Syndrome	Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Polyhydramnios, Cleft ...	OMIM:229850
Stickler Syndrome	Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Micrognathia, Hypopl...	ORPHA:828
Jacobsen Syndrome	Depressed nasal bridge, Anteverted nares, Missing ribs, Short neck, Micrognathia, Short nose	OMIM:147791
Mosaic Variegated Aneuploidy Syndrome 2	Bulbous nose, Depressed nasal bridge, Short nose, Micrognathia	OMIM:614114
Deeah Syndrome	Cervical hemivertebrae, Short neck, Scoliosis, Prominent nasal tip, Short nose, Retrognathia, C1-...	OMIM:619004
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Deep philtrum, Growth delay, Umbilical hernia, Everted lower lip vermil...	OMIM:613884
Macrocephaly/Autism Syndrome	Short nose, Depressed nasal bridge	OMIM:605309
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hamartomatous stomach polyps, ...	OMIM:109400
Adams-Oliver Syndrome 1	Encephalocele, Cleft upper lip, Cleft palate, Hypertension, Pulmonary arterial hypertension, Pulm...	OMIM:100300
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Meier-Gorlin Syndrome 6	Microretrognathia, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Depressed...	OMIM:616835
Joubert Syndrome 2	Encephalocele, Microphthalmia, High palate	OMIM:608091
Microphthalmia With Limb Anomalies	Macrodontia, Short stature, Cleft upper lip, Cleft palate, Thin vermilion border, High palate, Lo...	ORPHA:1106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia, Dilated cardiomyopathy, Pulmonic stenosis	OMIM:253800
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Short stature, Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Microphthalmia, In...	OMIM:616975
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:357001
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nare...	OMIM:269150
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Rhizomelia, Long philtrum	OMIM:615877
Femoral-Facial Syndrome	Underdeveloped nasal alae, Missing ribs, Micrognathia, Absent vertebra, Hemivertebrae, Rib fusion...	OMIM:134780
Fraser Syndrome 2	Intestinal malrotation, Rectal atresia, Narrow mouth, Microphthalmia, Anal atresia, Oligohydramnios	OMIM:617666
Pfeiffer Syndrome Type 1	Short nose, Depressed nasal bridge	ORPHA:93258
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Zttk Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Kyphosis, Hemivertebrae, Wide nasal bridge, Ri...	OMIM:617140
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye	ORPHA:91495
Chromosome 14Q11-Q22 Deletion Syndrome	Short nose, Depressed nasal bridge, Wide nasal bridge, Micrognathia	OMIM:613457
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Short nose, Depressed nasal bridge, Scoliosis	OMIM:601353
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Portal hypertension, Pulmonary arterial hypertension, Severe postnatal growth retardation, Thick ...	OMIM:620005
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Hypodontia, Microphthalmia, Lip pit, Abnormal palate morphology	ORPHA:1236
Bosma Arhinia Microphthalmia Syndrome	Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, Microphthalmia	OMIM:603457
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Cleft upper lip, Malabsorption, Cleft palate, Short philtrum...	ORPHA:50
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia	OMIM:614080
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida	ORPHA:1120
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Convex nasal ridge, Micrognathia	ORPHA:90154
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Short nose, Micrognathia	OMIM:602398
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoe...	ORPHA:2538
Jacobsen Syndrome	Anteverted nares, Short neck, Missing ribs, Wide nasal bridge, Abnormal form of the vertebral bod...	ORPHA:2308
Aspartylglucosaminuria	Beaking of vertebral bodies, Mandibular prognathia, Carious teeth, Wide nasal bridge, Anterior be...	ORPHA:93
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis	OMIM:277450
Peho Syndrome	Short nose, Anteverted nares	ORPHA:2836
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema	OMIM:221900
Pfeiffer Syndrome Type 2	Short nose, Depressed nasal bridge, Choanal atresia	ORPHA:93259
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Khan-Khan-Katsanis Syndrome	Sacral dimple, Short nose, Scoliosis, Micrognathia	OMIM:618460
Duane-Radial Ray Syndrome	Anal stenosis, Aganglionic megacolon, Optic disc hypoplasia, Microphthalmia, Spina bifida occulta...	OMIM:607323
Geleophysic Dysplasia 2	Short nose, Ovoid vertebral bodies	OMIM:614185
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sacral dimple, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Short neck, Wide nasal ...	OMIM:617157
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Short nose, Lumbar hyperlordosis, Scoliosis	ORPHA:522077
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Anteverted nares	ORPHA:96147
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Vertebral fusion, Anteverted nares, Short neck, Abnormal rib morphology, W...	ORPHA:373
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:261236
Cockayne Syndrome B	Severe short stature, Delayed eruption of primary teeth, Carious teeth, Postnatal growth retardat...	OMIM:133540
Trisomy 8P	Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Recurrent upper respiratory ...	ORPHA:264450
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard...	OMIM:206900
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Short stature, Polyhydramnios, Cleft upper lip, Abnormal...	ORPHA:138
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele	ORPHA:1827
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate	OMIM:110100
Pfeiffer Syndrome Type 3	Short nose, Depressed nasal bridge, Choanal atresia	ORPHA:93260
Dend Syndrome	Short nose, Anteverted nares	ORPHA:79134
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Short neck, Lumbar kyphosis, Thoracic kyphosis, Short nose	ORPHA:505248
Fraser Syndrome	Encephalocele, Anal stenosis, Anophthalmia, Dental crowding, Cleft upper lip, Myelomeningocele, D...	ORPHA:2052
Phocomelia, Schinzel Type	Short nose, Micrognathia, Aplasia/Hypoplasia of the sacrum, Short neck	ORPHA:2879
Oculoauricular Syndrome	Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif...	OMIM:612109
Aicardi Syndrome	Spina bifida, Hiatus hernia, Cleft upper lip, Postnatal growth retardation, Cleft palate, Microph...	OMIM:304050
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Corneal neovascularization, Telangiectasia	OMIM:278730
Wiedemann-Steiner Syndrome	Sacral dimple, Short nose, Aplasia/Hypoplasia of the ribs, Wide nasal bridge	ORPHA:319182
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Anteverted nares, Bulbous nose, Scoliosis, Wide nasal base, Short nose, Low ...	OMIM:601358
Trichothiodystrophy	Carious teeth, High, narrow palate, Bilateral microphthalmos, Cardiomyopathy, Umbilical hernia, E...	ORPHA:33364
Focal Dermal Hypoplasia	Delayed eruption of teeth, Anophthalmia, Short stature, Intestinal malrotation, Cleft upper lip, ...	OMIM:305600
Bartsocas-Papas Syndrome 1	Anal stenosis, Cleft upper lip, Cleft palate, Oral synechia, Microphthalmia, Anal atresia, Intrau...	OMIM:263650
Steinfeld Syndrome	Microphthalmia, Bifid uvula, Median cleft lip and palate	OMIM:184705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Helsmoortel-Van Der Aa Syndrome	Anteverted nares, Hyperlordosis, Broad nasal tip, Carious teeth, Wide nasal bridge, Scoliosis, Ad...	OMIM:615873
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Thin upper lip vermilion, Short stature, Optic nerve hypoplasia, Spina bifi...	ORPHA:508498
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Short stature, Carious teeth, Cleft palate, Narrow mouth, Microdontia, ...	OMIM:616734
Aymé-Gripp Syndrome	Short nose, Depressed nasal bridge, Supernumerary ribs, Scoliosis	ORPHA:1272
Degcags Syndrome	Tachycardia, Jejunal atresia, Polyhydramnios, Protruding tongue, Hiatus hernia, Pyloric stenosis,...	OMIM:619488
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Short nose, Retrognathia	OMIM:619426
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Spina bifida	OMIM:616038
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Microgn...	OMIM:618332
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Kyphosis, Supe...	ORPHA:268261
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont...	OMIM:305100
Ring Chromosome 7 Syndrome	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Narrow naris,...	ORPHA:1449
Neuroocular Syndrome	Hypoplasia of the fovea, Short stature, Short uvula, Lens coloboma, Submucous cleft hard palate, ...	OMIM:619539
Microphthalmia, Syndromic 9	Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Pulmonic stenosis, I...	OMIM:601186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:2719
Witteveen-Kolk Syndrome	Thin upper lip vermilion, Branchial fistula, Short stature, Polyhydramnios, High, narrow palate, ...	OMIM:613406
Hydrolethalus Syndrome 1	Median cleft lip, Polyhydramnios, Anencephaly, Cleft palate, Microphthalmia, Intrauterine growth ...	OMIM:236680
Acrocephalopolydactylous Dysplasia	Short nose, Short neck	OMIM:200995
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Short nose, Anteverted nares, Short neck	ORPHA:280633
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Short stature	OMIM:610651
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Broad nasal tip, Micrognathia, Bulbous nose, Scoliosis, Short nose	OMIM:309590
Lateral Meningocele Syndrome	Umbilical hernia, Hydrocephalus, Meningocele	OMIM:130720
Lateral Meningocele Syndrome	Umbilical hernia, Meningocele	ORPHA:2789
Renpenning Syndrome 1	Thin upper lip vermilion, Macrodontia, Short stature, Cleft palate, High palate, Short philtrum, ...	OMIM:309500
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Short nose	OMIM:252160
Cockayne Syndrome Type 3	Mild postnatal growth retardation, Carious teeth, Subdural hemorrhage, Retinal hemorrhage, Cardio...	ORPHA:90324
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Persistence of primary teeth, Carious teeth, Postnatal growth retardation, Bilater...	ORPHA:93325
Omodysplasia 1	Depressed nasal bridge, Micrognathia, Short neck, Wide nasal bridge, Short nose	OMIM:258315
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Anteverted nares, Prominent nasal bridge, Micrognathia	ORPHA:1974
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Scoliosis, Short nose, Retrognathia, Narrow nose	OMIM:301044
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Tricuspid regurgitation, Abnormal dental enamel morphology, Severe short stature, D...	ORPHA:2556
Arterial Tortuosity Syndrome	Short nose, Scoliosis	ORPHA:3342
Chromosome 17P13.1 Deletion Syndrome	Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Fanconi Anemia, Complementation Group C	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:227645
Cockayne Syndrome	Severe short stature, Abnormal dental morphology, Delayed eruption of primary teeth, Carious teet...	ORPHA:191
1P21.3 Microdeletion Syndrome	Short nose, Micrognathia, Broad nasal tip	ORPHA:293948
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Micrognathia, Short neck, Undulate ribs, Wide nasal bridge, Short nose	OMIM:609945
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Anteverted nares, Micrognathia, Cervical C2/C3 vertebral fusion, Short nose, Abnormal vertebral m...	ORPHA:444077
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, High palate, Bifid uvula, Dental malocclusion	OMIM:601552
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Severe short stature, Rhizomelia	ORPHA:85167
Treacher Collins Syndrome 1	Cleft soft palate, Bilateral microphthalmos, Cleft palate, Wide mouth, Abnormal parotid gland mor...	OMIM:154500
Cerebrooculonasal Syndrome	Short nose, Anteverted nares, Prominent nasal bridge, Proboscis	OMIM:605627
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Depressed nasal bridge, Convex nasal ridge	OMIM:300661
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia, Cleft palate	ORPHA:306542
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Anteverted nares, Kyphosis, Bulbous nose, Wide nasal bridge, Depressed nasal tip, Abno...	OMIM:619475
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Kyphoscoliosis, Short nose, Micrognathia	OMIM:618820
Fanconi Anemia, Complementation Group E	Microphthalmia, Short stature	OMIM:600901
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Thin upper lip vermilion, Branchial cyst, Infancy onset short-trunk ...	ORPHA:508488
Orofaciodigital Syndrome Type 4	Wide nose, Choanal atresia, Micrognathia, Depressed nasal ridge, Aplasia/Hypoplasia of the mandib...	ORPHA:2753
Charge Syndrome	Anal stenosis, Anophthalmia, Polyhydramnios, Cleft upper lip, Postnatal growth retardation, Esoph...	OMIM:214800
Fanconi Anemia, Complementation Group A	Microphthalmia, Short stature	OMIM:227650
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Thin upper lip vermilion, Thick lower lip vermilion, Thin vermilion border,...	OMIM:612474
Ayme-Gripp Syndrome	Mandibular prognathia, Short nose, Depressed nasal bridge, Wide nasal bridge	OMIM:601088
Acro-Renal-Ocular Syndrome	Aganglionic megacolon, Microphthalmia, Postnatal growth retardation, Optic disc hypoplasia	ORPHA:959
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Optic nerve hypoplasia, Bilateral microphthalmos, Narrow mouth, Intrauterin...	ORPHA:468631
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Meningocele	ORPHA:397715
C Syndrome	Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Micrognathia, Short nose	ORPHA:1308
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ...	ORPHA:2369
Tetraamelia Syndrome 1	Microphthalmia, Anal atresia, Cleft palate, Cleft upper lip	OMIM:273395
Toriello-Lacassie-Droste Syndrome	Short nose, Anteverted nares	ORPHA:3339
Pallister-Hall Syndrome	Natal tooth, Short stature, Accessory oral frenulum, Cleft lip, Cleft palate, Intrauterine growth...	ORPHA:672
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Agenesis of canine, Orofacial cleft, High palate, Long phil...	ORPHA:141099
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Fanconi Anemia, Complementation Group D2	Microphthalmia, Esophageal atresia, Short stature, Tracheoesophageal fistula	OMIM:227646
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Median cleft lip, Orofacial cleft	ORPHA:3186
Neu-Laxova Syndrome	Intrauterine growth retardation, Spina bifida	ORPHA:2671
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Anophthalmia, Dental crowding, Cleft upper li...	OMIM:219000
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Anteverted nares, Broad nasal tip, Long nose, Carious teeth, Bulbous nose, Wide nasal bridge, Sco...	OMIM:619522
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Depressed nasal bridge, Kyphoscoliosis, Hypoplasia of the maxilla, Hemivert...	ORPHA:500150
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Ctcf-Related Neurodevelopmental Disorder	Sacral dimple, Anteverted nares, Broad nasal tip, Short columella, Macrodontia of permanent maxil...	ORPHA:363611
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Severe short stature, Short stature	OMIM:127000
Okamoto Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Scoliosis...	ORPHA:2729
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Short nose, Short columella, Scoliosis	OMIM:601776
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Dental malocclusion, Wide nasal ...	OMIM:312870
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose	OMIM:252150
Branchiooculofacial Syndrome	Anophthalmia, Cleft upper lip, Malrotation of colon, Abnormality of the dentition, Lower lip pit,...	OMIM:113620
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Short nose	OMIM:609942
Nail-Patella Syndrome	Spina bifida	OMIM:161200
Pagod Syndrome	Encephalocele, Meningocele, Spina bifida	ORPHA:991
Monosomy 13Q14	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1587
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Short neck, Broad nasal tip, Wide nasal bridge, Prominent nasal tip, Short...	OMIM:620330
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Anencephaly	OMIM:616546
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Short stature, Pyloric stenosis, Submucous clef...	OMIM:235730
Specc1L-Related Hypertelorism Syndrome	Advanced eruption of teeth, Short nose, Prominent nasal bridge, Wide nasal bridge	ORPHA:1519
Fibular Hemimelia	Spina bifida	ORPHA:93323
Williams Syndrome	Sacral dimple, Abnormal dental enamel morphology, Hyperlordosis, Micrognathia, Kyphosis, Carious ...	ORPHA:904
Holoprosencephaly 2	Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in...	OMIM:157170
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Delayed eruption of teeth, Sacral dimple, Depressed nasal bridge, Thoracol...	OMIM:619503
Peters Plus Syndrome	Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Micrognathia, Short columell...	ORPHA:709
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Geleophysic Dysplasia 1	Short nose, Anteverted nares	OMIM:231050
Cornelia De Lange Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck,...	ORPHA:199
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Cleft upper lip, Postnatal growth retardation, Frontal encephalocele, Cleft palat...	OMIM:268300
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Recta...	OMIM:309800
Holoprosencephaly 1	Microphthalmia, Short stature, Median cleft lip and palate	OMIM:236100
Mowat-Wilson Syndrome	Dental crowding, Cleft hard palate, Widely spaced teeth, Bifid uvula, Abnormal dental morphology,...	ORPHA:2152
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Short stature	OMIM:259770
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Sh...	ORPHA:261537
Microphthalmia, Syndromic 6	Anophthalmia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula	OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Everted lower lip vermilion	OMIM:253280
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Orofaciodigital Syndrome Vi	Occipital meningocele	OMIM:277170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Sh...	ORPHA:261552
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Koolen-De Vries Syndrome Due To A Point Mutation	Hydrocephalus, Spina bifida	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hydrocephalus, Spina bifida	ORPHA:363958
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Williams-Beuren Syndrome	Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Broad nasal tip, Dental malocclusion, S...	OMIM:194050
Thrombocytopenia-Absent Radius Syndrome	Spina bifida	OMIM:274000
Lowe Oculocerebrorenal Syndrome	Postnatal growth retardation, Microphthalmia, Enamel hypoplasia, Short stature	OMIM:309000
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic stroke, Microphthalmia,...	OMIM:175780
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short nose, Convex nasal ridge	OMIM:619321
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Cleft upper lip, Cleft palate, Wide mouth, Branchial anoma...	OMIM:164210
Knobloch Syndrome 1	Occipital meningocele, Occipital encephalocele, Spina bifida occulta	OMIM:267750
Norrie Disease	Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Thin vermilion border, Delayed puberty, M...	ORPHA:649
Townes-Brocks Syndrome	Rectoperineal fistula, Short stature, Anteriorly placed anus, Wide mouth, Rectovaginal fistula, D...	ORPHA:857
Vater/Vacterl Association	Occipital encephalocele, Spina bifida, Patent urachus, Intrauterine growth retardation	OMIM:192350
Arima Syndrome	Occipital meningocele	OMIM:243910
Lipodystrophy, Familial Partial, Type 7	Short nose, Narrow nasal ridge	OMIM:606721
Marfan Syndrome	Meningocele	ORPHA:558
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida	OMIM:619480
Penile Agenesis	Short nose, Depressed nasal bridge	ORPHA:49
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele	OMIM:276820
Facioscapulohumeral Dystrophy	Hyperlordosis	ORPHA:269
Facioscapulohumeral Muscular Dystrophy 4, Digenic		OMIM:619478

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 Dnmt3b

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 Dnmt3b.

No publications found that use IMPC mice or data for Dnmt3b.

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MGI Allele	Allele Type	Produced
Dnmt3b^{tm299884(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dnmt3b^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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: Dnmt3b MGI:1261819

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E14.5-E15.5

X-ray

Human diseases caused by Dnmt3b mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data