Gene Summary

Name:
MKS transition zone complex subunit 1
Synonyms:
B8d3,  Meckel syndrome, type 1,  avc6

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal nail morphology Mks1tm1a(EUCOMM)Wtsi HET Early adult 3.63×10-05
increased circulating creatine kinase level Mks1tm1a(EUCOMM)Wtsi HET Early adult 4.37×10-07

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote Ambiguous
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Uterus N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

2 Images

Legacy Phenotype Associated Images

View all 154 images

Human diseases caused by Mks1 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.

The table below shows human diseases predicted to be associated to Mks1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cleft palate, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the l... ORPHA:1505
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Meckel Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Anencephaly, Optic atrophy, Furrow... ORPHA:564
Mosaic Trisomy 9
High palate, Cleft palate, Abnormal liver lobulation, Micromelia, Finger clinodactyly, Ventricula... ORPHA:99776
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Micropenis, Short ribs, Micrognathia, Micromelia, Anterior hypopitui... OMIM:241800
Femoral-Facial Syndrome
Cleft palate, Radioulnar synostosis, Long penis, Abnormality of fibula morphology, Sprengel anoma... ORPHA:1988
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Hydrocephalus, Wide mouth, Cleft palate, Abnormality of the u... OMIM:249000
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Carpenter Syndrome 1
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, V... OMIM:201000
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Stromme Syndrome
Wide mouth, Duodenal atresia, Hydrocephalus, Deeply set eye, Hypertelorism, Cleft palate, Preaxia... OMIM:243605
Distal Trisomy 17Q
High palate, Wide mouth, Cleft palate, Short philtrum, Genu valgum, Rhizomelia, Abnormal heart mo... ORPHA:3379
Orofaciodigital Syndrome I
High palate, Hydrocephalus, Cleft palate, Ovarian cyst, Lobulated tongue, Hepatic cysts, Carious ... OMIM:311200
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Pulmonary hypoplasia, Bowing of ... OMIM:614091
Lipedema
Edema OMIM:614103
Mosaic Trisomy 1
Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Single transverse palmar cr... ORPHA:1692
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Acalvaria
Hydrocephalus, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormal lu... ORPHA:945
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Rhizomelic arm shortening, Twelfth rib... ORPHA:397715
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Ulnar deviation of the hand, Periportal fibrosis, Narrow greater sciatic ... OMIM:263210
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micromelia, Delayed eruptio... OMIM:184260
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Cleft palate, Hypospadias, Micrognathia, Ventricu... OMIM:231060
Trisomy 13
Abnormal antihelix morphology, Abnormal helix morphology, Cleft palate, Abnormality of the dentit... ORPHA:3378
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Rubinstein-Taybi Syndrome 1
High palate, Dental crowding, Prominent fingertip pads, Cleft palate, Ventricular septal defect, ... OMIM:180849
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Cleft palate, Barrel-shaped chest, Micromelia, Enlarged kidney, Ambiguous genitali... OMIM:612651
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atre... OMIM:306955
C Syndrome
High palate, Wide mouth, Hepatomegaly, Micromelia, Ulnar deviation of finger, Ventricular septal ... OMIM:211750
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Wide mouth, Abnormal pinna morphology, Micropenis, Overfolded helix, Small hand, Broad finger, Sh... OMIM:614684
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Rhizomelia, Ambiguous genitalia, Pulmonary hy... OMIM:616300
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Midshaft hypospadias, Tooth agenesis, Renal hypoplasia/aplasia, Microg... ORPHA:2863
Diabetic Embryopathy
Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Renal hypoplasia/aplasia, Cleft palate, Micr... ORPHA:1926
Meckel Syndrome, Type 6
Aplasia of the bladder, Cleft upper lip, Hydrocephalus, Talipes equinovarus, Cleft palate, Anence... OMIM:612284
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Syndactyly, Hepatic cysts, Ventricular septal defect, Polyhydramnios, Renal... OMIM:263630
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Talipes equinovarus, Hepatomegaly, Pulmonic stenosis, Femoral bowing, Olig... OMIM:615415
Meckel Syndrome, Type 8
Cleft upper lip, Talipes equinovarus, Cleft palate, Encephalocele, Anophthalmia, Polydactyly, Hyp... OMIM:613885
Alg9-Cdg
Wide mouth, Hepatomegaly, Shallow orbits, Hypoplasia of the bladder, Hepatic cysts, Ventricular s... ORPHA:79328
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Unilateral wrist flexion contracture, Talipes equinovarus, Absent uvu... OMIM:616531
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Cleft palate, Upper limb phocomelia, Abnormal hip bone morpho... ORPHA:294975
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Hydrocephalus, 11 pairs of ribs, Polymicrogyria, Ventricular septal defect, Me... OMIM:264480
Meckel Syndrome, Type 3
Hydrocephalus, Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Malformation of the hepa... OMIM:607361
Marden-Walker Syndrome
High palate, Cleft palate, Radioulnar synostosis, Pulmonary hypoplasia, Microphthalmia, Talipes e... OMIM:248700
Feingold Syndrome 1
High palate, Tracheoesophageal fistula, Aplasia/Hypoplasia of the middle phalanx of the 5th finge... OMIM:164280
Frontonasal Dysplasia 1
Conductive hearing impairment, Median cleft palate, Joint contracture of the hand, Hypertelorism,... OMIM:136760
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Absent thumb, Hypoplasia of the radius, Biliary tract abnormality, Hyp... OMIM:156810
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Mi... OMIM:617866
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Craniosynostosis, Severe B lymphocytopenia, 11 pairs of ribs, ... OMIM:620005
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Deeply set eye, Toe clinodactyly, Everted lower lip vermilion, Microgn... ORPHA:261120
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Hepatomegaly, Single transverse palmar crease, Ventricular septal defect, Pulmonary ... OMIM:214100
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Atrial septal defect, Hypertelorism, Bilateral talipes equinovarus,... OMIM:618142
Trisomy 1Q
Hydrocephalus, Cleft palate, Ventricular septal defect, Omphalocele, Anophthalmia, Patent ductus ... ORPHA:261344
Tarp Syndrome
High palate, Pectus excavatum, Short sternum, Talipes equinovarus, Cleft palate, Postaxial polyda... OMIM:311900
Distal Tetrasomy 15Q
Hydrocele testis, High palate, Hydrocephalus, Abnormal sternum morphology, Atrial septal defect, ... ORPHA:314588
Basal Cell Nevus Syndrome
Hydrocephalus, Cleft palate, Down-sloping shoulders, Mandibular prognathia, Ovarian carcinoma, Sp... OMIM:109400
Roberts-Sc Phocomelia Syndrome
High palate, Abnormal pinna morphology, Hydrocephalus, Cleft palate, Craniosynostosis, Shallow or... OMIM:268300
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Hydrocephalus, Cleft palate, Craniofacial asymmetry, Malrotation of sm... OMIM:194190
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Ureteral obstruction, Pulmonary ... ORPHA:90652
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Abnormal pinna morphology, Hepatomegaly, Anencephaly, Lobulated tongue, Ventricula... OMIM:269860
Cranioectodermal Dysplasia 1
High palate, Hepatomegaly, Hepatic failure, Malformation of the hepatic ductal plate, Microdontia... OMIM:218330
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Anencephaly, Micromelia, Aplasia/Hypoplasia of the cerebellum, Ventr... ORPHA:1908
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Cleft palate, Anencephaly, Postaxial hand polydactyly, Ventr... OMIM:611134
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Microretrognathia, Cutan... OMIM:236500
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Triploidy
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Hydrocephalus, Wide mou... ORPHA:3376
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Talipes equinovarus, Cleft palate, Splenomegaly, Micrognathia, Hepatosplenomegaly, ... OMIM:614866
Conotruncal Heart Malformations
Double outlet right ventricle, Complete atrioventricular canal defect, Transposition of the great... OMIM:217095
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Conductive hearing impairment, Short toe, Clinodactyly of the 5th finger, Everted lo... OMIM:617877
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of ... OMIM:613091
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the ulna, Hypoplastic pelvis, P... OMIM:208500
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, High palate, Narrow mouth, Short sternum, Talipes equinovarus, Short metacar... OMIM:266910
Pallister-Hall Syndrome
Cleft palate, Ventricular septal defect, Y-shaped metacarpals, Anteriorly placed anus, Distal sho... OMIM:146510
Primary Ciliary Dyskinesia
Double outlet right ventricle, Conductive hearing impairment, Hydrocephalus, Anomalous pulmonary ... ORPHA:244
Pentalogy Of Cantrell
Hydrocephalus, Atrial septal defect, Abnormal pericardium morphology, Cleft palate, Renal agenesi... ORPHA:1335
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Hypertelorism, Malar flattening, Hypospadias, Brachydactyly, Te... ORPHA:1919
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... OMIM:617927
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Pectus carinatum, Ventricular septal defect, Ambiguous genitalia, Pulmonary hypopla... OMIM:263520
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Rectal prolapse, Horseshoe kidney, Pericard... OMIM:235510
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Wide mouth, Hepatomegaly, Hypertelorism, Hepatosplenomegaly, ... OMIM:608776
Fryns Syndrome
Wide mouth, Abnormal helix morphology, Prominent fingertip pads, Cleft palate, Ventricular septal... OMIM:229850
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Hypoplasia of the ... OMIM:122470
Autosomal Recessive Spondylocostal Dysostosis
Rib fusion, Anomalous pulmonary venous return, Cleft palate, Hypospadias, Abnormality of the uret... ORPHA:2311
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Clinodactyly of the 5th finger, Hypertelorism, Microretrognathia,... ORPHA:3080
Cardiofacioneurodevelopmental Syndrome
Protruding ear, Clinodactyly of the 5th finger, Hypotelorism, Cleft palate, Atrioventricular cana... OMIM:619123
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cleft palate, Short philtrum, Ventricular septal defect, Sandal gap, Pulmonary hypop... OMIM:612530
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Lipoma, Talipes equinovarus, Hypertelorism, Cleft ... OMIM:603671
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Low-set ears, Multiple joint contractures, Renal hypoplasia/aplasia, Deeply set eye, Adducted thu... ORPHA:2570
Thanatophoric Dysplasia Type 2
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Encephalocele, Abnormality of the kidney,... ORPHA:93274
Dextrocardia With Unusual Facies And Microphthalmia
Cleft palate, Micrognathia, Macrotia, Anophthalmia, Dextrocardia, Microphthalmia, Supernumerary r... OMIM:221950
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft palate, Uterus didelphys, Long thorax, Pulmonary hypoplasia, Short long bone, Anal atresia,... OMIM:617925
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Hypertelorism, Micrognathia, Short philtrum, Ventricular septal defect, Downturne... ORPHA:93267
Tarp Syndrome
Pectus excavatum, Short sternum, Cleft palate, Single transverse palmar crease, Tongue nodules, H... ORPHA:2886
Hypoglossia With Situs Inversus
High palate, Narrow mouth, Hypodontia, Micrognathia, Situs inversus totalis, Microglossia, Low-se... OMIM:612776
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Micrognathia, Premature sternal synostosis, Cryptorchidism, Abnormal heart morphology OMIM:184800
Cranioectodermal Dysplasia 2
High palate, Hepatomegaly, Cleft palate, Craniosynostosis, Microdontia, Cholestasis, Rhizomelia, ... OMIM:613610
Meckel Syndrome, Type 2
Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand polydactyly, Renal... OMIM:603194
Carpenter Syndrome
Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand pol... ORPHA:65759
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Anomalous pulmonary venous return, Ventricular septal defect, Solitary median maxill... OMIM:619657
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal cardiac septum morphology, Cleft palate, Anteriorly placed anus, Open mouth, Abnormal he... OMIM:618494
Gracile Bone Dysplasia
Hydrocephalus, Thin ribs, Micropenis, Flared metaphysis, Brachydactyly, Slender long bone, Hypopl... OMIM:602361
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Patent urachus, Tracheomalacia, Hepatopulmonary fusio... OMIM:618280
Meckel Syndrome, Type 5
Cleft upper lip, Cleft palate, Anencephaly, Postaxial hand polydactyly, Renal cyst, Postaxial foo... OMIM:611561
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Cleft palate, Anencephaly, Upper limb undergrowth, Ventricular septal ... OMIM:236680
Meckel Syndrome 14
Microphthalmia, Hypertelorism, Microretrognathia, Holoprosencephaly, Postaxial polydactyly, Singl... OMIM:619879
Renpenning Syndrome
Sprengel anomaly, Anal atresia, Narrow mouth, Clinodactyly of the 5th finger, Pectus excavatum, H... ORPHA:3242
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Chronic kidney disease, Hepato... OMIM:615630
Sweeney-Cox Syndrome
High palate, Anal atresia, Short clavicles, Narrow mouth, Gastroesophageal reflux, Hypertelorism,... OMIM:617746
Catel-Manzke Syndrome
High palate, Cleft upper lip, Abnormal pinna morphology, Clinodactyly of the 5th finger, Talipes ... OMIM:616145
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Nonimmune hydrops fetalis... OMIM:265380
Pseudoaminopterin Syndrome
High palate, Hydrocephalus, Slender finger, Short philtrum, Clinodactyly of the 4th finger, Micro... ORPHA:221120
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Abnormal hip bone morphology, Retrognathia, Thin vermilion border, Camptodactyly of... ORPHA:2631
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal f... OMIM:314390
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Tapered finger, S... ORPHA:251071
Pierpont Syndrome
Prominent fingertip pads, Short nose, Microphthalmia, Deeply set eye, Prominent median palatal ra... OMIM:602342
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kid... ORPHA:2538
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Czeizel-Losonci Syndrome
High palate, Hydrocephalus, Tracheoesophageal fistula, 2-3 finger syndactyly, Single transverse p... ORPHA:2437
Trisomy 17P
High palate, Wide mouth, Hydrocephalus, Cleft palate, Tapered finger, Clinodactyly of the 5th fin... ORPHA:261290
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... OMIM:186350
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Pectus excavatum, Cleft palate, Hypoplasia of the maxilla, Shawl scrotum, Sprengel a... OMIM:213980
Autosomal Recessive Robinow Syndrome
Wide mouth, Pectus excavatum, Abnormality of the dentition, Short philtrum, Pectus carinatum, Ven... ORPHA:1507
22Q11.2 Duplication Syndrome
Hypertelorism, Hypoplastic left heart, Cleft palate, Micrognathia, Tetralogy of Fallot, Ventricul... ORPHA:1727
Chromosome 16P13.3 Deletion Syndrome, Proximal
High palate, Clinodactyly of the 5th finger, Hypoplastic left heart, Micrognathia, Abnormality of... OMIM:610543
Holzgreve Syndrome
Cleft upper lip, Hypoplastic left heart, Cleft palate, Renal agenesis, Renal hypoplasia, Hand pol... OMIM:236110
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Talipes equinovarus, Malar flattening, Micrognathia, Neonatal death, Thoracic hypop... OMIM:224410
Robinow Syndrome, Autosomal Recessive 1
Dental crowding, Wide mouth, Pectus excavatum, Triangular mouth, Hypoplastic sacrum, Hypoplasia o... OMIM:268310
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Single transverse palmar crease, Short nose, Sandal gap, Microphthalmi... OMIM:206920
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Sandal... OMIM:607323
Myoectodermal Gonadal Dysgenesis Syndrome
Sensorineural hearing impairment, Anal atresia, Hypodontia, Thin vermilion border, Overfolded hel... OMIM:618419
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Ventricular septal defect, Prolonge... OMIM:619418
Orofaciodigital Syndrome Vi
High palate, Cleft palate, Tongue nodules, Central Y-shaped metacarpal, Cleft upper lip, Postaxia... OMIM:277170
Scarf Syndrome
Short sternum, Micropenis, Bifid scrotum, Long philtrum, Hepatocellular adenoma, Hypoplastic nipp... ORPHA:3134
Diaphanospondylodysostosis
Talipes equinovarus, Nephrogenic rest, Cleft palate, Abnormal liver lobulation, Micrognathia, Abs... OMIM:608022
Cantu Syndrome
Thick upper lip vermilion, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Broad... OMIM:239850
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Ventricular septal defect, Pulmonary hypoplasia, Thoracic hypoplasia, Cardiomegaly,... OMIM:616897
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangism affec... OMIM:186500
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Acrorenal-Mandibular Syndrome
Absent nipple, Aplasia of the bladder, High palate, Hypoplasia of the radius, Uterus didelphys, A... OMIM:200980
Fetal Trimethadione Syndrome
High palate, Abnormal helix morphology, Atrial septal defect, Overfolded helix, Hypospadias, Micr... ORPHA:1913
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypertelorism, Flexion contracture, Accessory spleen, Long philtrum, Wide nasal bridge, Ventricul... OMIM:619306
Multiple Acyl-Coa Dehydrogenase Deficiency
Wide anterior fontanel, Renal cortical cysts, Hepatomegaly, Glycosuria, Neonatal death, Generaliz... OMIM:231680
Simpson-Golabi-Behmel Syndrome
Wide mouth, Abnormal helix morphology, Hepatomegaly, Hepatoblastoma, Cleft palate, Congenital hip... ORPHA:373
Pierpont Syndrome
Prominent fingertip pads, Microphthalmia, Deeply set eye, Deep palmar crease, Joint laxity, Hyper... ORPHA:487825
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hip d... OMIM:304120
Alveolar Echinococcosis
Abnormality of bladder morphology, Decreased liver function, Bone cyst, Abnormal pericardium morp... ORPHA:284
8P23.1 Duplication Syndrome
Deeply set eye, Hypertelorism, Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular... ORPHA:251076
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... OMIM:613751
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Abnormal cardiac septum morphology, Hypertelorism, Cleft palate, Thin vermilion ... OMIM:614294
Simpson-Golabi-Behmel Syndrome, Type 1
Posterior helix pit, Hydrocephalus, Wide mouth, Short sternum, Hepatomegaly, Hepatoblastoma, Clef... OMIM:312870
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Apnea, Hepatomegaly, Overfolded helix, Elevated circulating aspartate aminotransfera... OMIM:608836
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Pulmonary hypoplasia, ... ORPHA:2059
Caudal Regression Syndrome
Anal atresia, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal iliac wing morphology, ... ORPHA:3027
Hydrolethalus
Hydrocephalus, Deeply set eye, Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Micromel... ORPHA:2189
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger, Abnormal heart morphology OMIM:233270
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Anencephaly, Delayed er... OMIM:619148
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Telangiectasia of the skin, Abnormality of the dentition, Ven... ORPHA:2092
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Nephronophthisis, Cone-s... ORPHA:474
Holoprosencephaly 5
High palate, Hydrocephalus, Hypotelorism, Alobar holoprosencephaly, Holoprosencephaly, Syntelence... OMIM:609637
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Short sternum, Triangular mouth, Malar flattening, Micropenis, Bifid scrotum, Micr... OMIM:257300
Cystic Echinococcosis
Cholestatic liver disease, Hepatomegaly, Bone cyst, Ovarian cyst, Eosinophilia, Peritoneal absces... ORPHA:400
Donnai-Barrow Syndrome
Wide anterior fontanel, Short sternum, Non-acidotic proximal tubulopathy, Bicornuate uterus, Mala... OMIM:222448
Ciliary Dyskinesia, Primary, 14
Heterotaxy, Otitis media, Absent inner dynein arms, Abnormal axonemal organization of respiratory... OMIM:613807
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia, Atrial septal defect, Abnormality of the kidney, Respirat... ORPHA:2655
Acropectoral Syndrome
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb OMIM:605967
Orofaciodigital Syndrome Xvii
Low-set ears, High, narrow palate, Micropenis, Retrognathia, Partial duplication of thumb phalanx... OMIM:617926
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Intrahepatic bile du... OMIM:616307
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, High palate, Short sternum, Abnormal external genitalia, Hypoplas... ORPHA:3404
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... ORPHA:93323
Mmep Syndrome
Split foot, Oral cleft, Ventricular septal defect, Triphalangeal thumb, Median cleft lip, Microph... ORPHA:3434
Rhyns Syndrome
Deeply set eye, Nephronophthisis, Hypoplastic ilia, Osteopenia, Multicystic kidney dysplasia, Abn... ORPHA:140976
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow chest, Bowing of the legs, Hydrocephalus, Narrow mouth, Talipes equinovarus, Cleft palate,... ORPHA:1865
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Abnormality of the tongue, Pectus excavatum, Cleft palate, Symphalangism affecting t... ORPHA:2990
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Aminoaciduria, Talipes equinovarus, Joint contracture of the hand, Cleft palate, Mi... OMIM:214110
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Cleft palate, Micrognathia, Edema, Rocker bottom foot, Arthr... OMIM:616570
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Hepatoblastoma, Short 1st metacarpal, Splenopancreatic fusion, Single transverse p... OMIM:269150
Joubert Syndrome 14
Hydrocephalus, Deeply set eye, Hypertelorism, Malar flattening, Encephalocele, Postaxial polydact... OMIM:614424
16P13.11 Microduplication Syndrome
Atrial septal defect, Craniosynostosis, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot... ORPHA:261243
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Enlarged kidney, Optic atrophy, Proteinuria, Bone marrow hypocellularity, Nephrotic... OMIM:617303
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly, Hypospadias, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:141333
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Abnormal pinna morphology, Hepatomegaly, Hypertelorism, Craniosynostosis, Panc... OMIM:200995
Dysosteosclerosis
High palate, Short sternum, Delayed eruption of teeth, Broad ribs, Sclerotic scapulae, Progressiv... OMIM:224300
8P Inverted Duplication/Deletion Syndrome
Wide mouth, Aplasia/Hypoplasia of the gallbladder, Abnormal heart morphology, Clinodactyly of the... ORPHA:96092
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Dandy-Walker malformation, Intestinal malrotation, Multicystic... ORPHA:3032
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Umbilical hernia, Microphthalmia... ORPHA:2166
Holoprosencephaly
Abnormal antihelix morphology, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Ventricular s... ORPHA:2162
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Deeply set eye, Coarctation of aorta, Broad hallux, Broad thumb, Patent du... OMIM:612474
Distal Monosomy 7Q36
Wide mouth, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Holoprosencephaly,... ORPHA:1636
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, High palate, Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, ... OMIM:616809
Marshall-Smith Syndrome
High palate, Hydrocephalus, Pectus excavatum, Short sternum, Slender finger, Prominent fingertip ... OMIM:602535
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
10Q22.3Q23.3 Microduplication Syndrome
Deeply set eye, Hypotelorism, Microretrognathia, Hypospadias, Abnormality of the dentition, Chron... ORPHA:276422
Becker Nevus Syndrome
Rib fusion, Pectus excavatum, Supernumerary nipple, Micromelia, Abnormality of tibia morphology, ... ORPHA:64755
Disorganization, Mouse, Homolog Of
Sensorineural hearing impairment, Cleft upper lip, Cleft palate, Limb duplication, Hand polydacty... OMIM:223200
Tonne-Kalscheuer Syndrome
Narrow mouth, Velopharyngeal insufficiency, Malar flattening, Micropenis, Micrognathia, Hypospadi... OMIM:300978
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Deeply set eye, Atrial septal defect, Hypertelori... OMIM:618316
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Renal hypoplasia/aplasia, Gingival overgrowth, Congenital diaphragmatic hernia, Hy... ORPHA:1834
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Clinodactyly of the 5th finger, Gastroesophageal reflux, Deeply set eye, Cleft palat... ORPHA:576283
6P22 Microdeletion Syndrome
Low-set ears, Hydrocephalus, Deeply set eye, Hypotelorism, Overfolded helix, Patent ductus arteri... ORPHA:251046
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Hydrocephalus, Abnormal external genitalia, 11 pairs of ribs, Ventricular septal def... OMIM:607872
Frank-Ter Haar Syndrome
Wide mouth, Protruding ear, Clinodactyly of the 5th finger, Gingival overgrowth, Premature loss o... ORPHA:137834
Robinow Syndrome
Tricuspid atresia, External genital hypoplasia, Triangular mouth, Broad alveolar ridges, Clitoral... ORPHA:97360
Craniofaciofrontodigital Syndrome
Stroke, Finger joint hypermobility, Anomalous branches of internal carotid artery, Osteopenia, Ve... ORPHA:363705
Thomas Syndrome
Cleft upper lip, Renal hypoplasia/aplasia, Hypoplastic left heart, Cleft palate, Multicystic kidn... ORPHA:3316
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inve... OMIM:613095
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Hypertelorism, Cleft palate, Hypospadias, Micr... ORPHA:2075
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele, Polydactyly OMIM:615397
Dextrocardia
Hydrocephalus, Congenital malformation of the great arteries, Intestinal malrotation, Abnormality... ORPHA:1666
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Dislocated radial head, Metaphyseal dysplasia, Delayed ossification of carp... OMIM:617425
Jawad Syndrome
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... OMIM:251255
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short ribs, Brachydactyly, Polydactyly, Hepatic cysts, Short long bone, Stage 5 chronic kidney di... OMIM:613819
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Cleft upper lip, Abnormality of the tongue, Hypertelorism, Malar flattening, Intestinal malrotati... OMIM:601165
Distal Monosomy 13Q
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Renal hypoplasia/aplasi... ORPHA:1590
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... OMIM:173900
Mpdu1-Cdg
Wide anterior fontanel, Renal cortical cysts, Decreased response to growth hormone stimulation te... ORPHA:79323
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the uppe... ORPHA:1106
Alkuraya-Kucinskas Syndrome
High palate, Overlapping toe, Hydrocephalus, Hypotelorism, Talipes equinovarus, Hand clenching, H... OMIM:617822
Aicardi Syndrome
Bifid ribs, Rib fusion, Cleft upper lip, Precocious puberty, Hiatus hernia, Hepatoblastoma, Cleft... OMIM:304050
Acrocallosal Syndrome
High palate, Abnormal cardiac septum morphology, Abnormal pinna morphology, Wide mouth, Triangula... OMIM:200990
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Wide mouth, Cleft palate, Overfolded helix, Short philtrum, Ventricular septal defect, Contractur... OMIM:280000
Hartsfield Syndrome
Hypertelorism, Cleft palate, Respiratory insufficiency, Low-set, posteriorly rotated ears, Aplasi... ORPHA:2117
Meckel Syndrome 13
Micrognathia, Polycystic kidney dysplasia, Occipital encephalocele OMIM:617562
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, High, narrow palate, Deeply set ... ORPHA:2849
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Cleft palate, Short philtrum, Tapered finger, Short nose, Tented upper lip vermili... OMIM:239300
Chromosome 20Q11-Q12 Deletion Syndrome
Deeply set eye, Hypertelorism, Adducted thumb, Short philtrum, Brachydactyly, Finger clinodactyly... OMIM:614257
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Burn-Mckeown Syndrome
Cleft upper lip, Conductive hearing impairment, Protruding ear, 2-3 toe syndactyly, Atrial septal... OMIM:608572
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Talipes equinovarus, Hypertelorism, Macroglossia, Everted lower lip vermilion, Open m... OMIM:616789
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Hypo... OMIM:601186
Atelosteogenesis, Type Ii
Talipes equinovarus, Bifid humerus, Malar flattening, Cleft palate, Micrognathia, Micromelia, Lim... OMIM:256050
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth, External genital hypoplasia, High, narrow palate,... OMIM:601095
Orofaciodigital Syndrome Type 3
Pectus excavatum, Short sternum, Dandy-Walker malformation, Abnormality of the dentition, Bifid u... ORPHA:2752
Oculoauriculovertebral Spectrum With Radial Defects
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2549
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Camptodactyly of finger, Dextrocardia, Meningocele, Missing... ORPHA:1759
Scarf Syndrome
Short sternum, Micropenis, Bifid scrotum, Barrel-shaped chest, Long philtrum, Pectus carinatum, H... OMIM:312830
Femoral-Facial Syndrome
Cleft palate, Short fourth metatarsal, Radioulnar synostosis, Ventricular septal defect, Hypoplas... OMIM:134780
20Q11.2 Microdeletion Syndrome
Abnormality of the ear, Deeply set eye, Hypertelorism, Adducted thumb, Short philtrum, Brachydact... ORPHA:444051
49,Xxxxy Syndrome
Cleft palate, Down-sloping shoulders, Delayed eruption of teeth, Radioulnar synostosis, Carious t... ORPHA:96264
Ververi-Brady Syndrome
High palate, Metaphyseal irregularity, Wide mouth, Clinodactyly of the 5th finger, Hypertelorism,... OMIM:617982
Chime Syndrome
Cleft palate, Abnormality of the dentition, Short philtrum, Microdontia, Ventricular septal defec... ORPHA:3474
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Hydrocephalus, Cutis marmorata, Nephroblastoma, Syndactyly, Polydactyly, Polymicro... OMIM:602501
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Joint stiffness, Protruding ear, Tooth agenesis, Renal hypoplasia/aplasia, Cleft palate, Abnormal... ORPHA:1166
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Cone-shaped epiphyses of the phalanges of the hand, Abnormali... ORPHA:2484
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Thin vermilion border, Micrognathia, Short philtrum, Brachydactyly,... ORPHA:1406
Trisomy 18
Cleft palate, Abnormality of the upper urinary tract, Anencephaly, Abnormality of the upper limb,... ORPHA:3380
Coach Syndrome 2
Hydrocephalus, Hyperechogenic kidneys, Apneic episodes in infancy, Congenital hepatic fibrosis, E... OMIM:619111
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Short philtrum, Short nose, Umbilic... OMIM:618454
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia, Cleft palate, Congenital hip dislocation, Anophth... OMIM:164180
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Rib fusion, Spina bifida occulta, Abnormal rib morphology, Situs inversus total... OMIM:613686
Autosomal Dominant Spondylocostal Dysostosis
Cleft palate, Posterior rib fusion, Spina bifida occulta, Abnormal morphology of female internal ... ORPHA:1797
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Narrow chest, Hydrocephalus, Atrial septal defect, Cleft palate, Micropenis, Postaxial polydactyl... OMIM:616546
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Talipes equinovarus, Hypertelorism, Cleft ... OMIM:300209
Coach Syndrome 1
Wide mouth, Hepatomegaly, Hypertelorism, Nephronophthisis, Intrahepatic bile duct dilatation, Uni... OMIM:216360
Meier-Gorlin Syndrome 7
High palate, Cleft palate, Ventricular septal defect, Pulmonary hypoplasia, Clitoral hypertrophy,... OMIM:617063
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Muscular ventricular septal defect, Abnormality of the dentition, Long nose, Carious teeth, Horse... ORPHA:363444
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Malar flattening, Micropenis, Renal agenesis, Micrognathia, Hypospadias, Thin verm... ORPHA:171839
Hennekam Syndrome
Arteriovenous malformation, Lymphangioma, Craniosynostosis, Short philtrum, Delayed eruption of t... ORPHA:2136
Aarskog-Scott Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Single transverse palmar c... ORPHA:915
Pyknoachondrogenesis
Stillbirth OMIM:265880
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Smith-Lemli-Opitz Syndrome
Dental crowding, Hydrocephalus, Periventricular heterotopia, Hepatomegaly, Cleft palate, Broad al... OMIM:270400
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Narrow mouth, Hypoplasia of penis, Holoprosencephaly, Low-set, posteriorly ... ORPHA:990
Acro-Renal-Mandibular Syndrome
High palate, Abnormal clavicle morphology, Aplasia/Hypoplasia of the tongue, Hypoplasia of the ra... ORPHA:958
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Gingival overgrowth, Hypertelorism, Triangular mouth, Abnormality of the d... OMIM:618529
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Rib fusion, Atrial septal defect... ORPHA:261197
Distal Trisomy 5Q
Narrow mouth, Hypertelorism, Absent thumb, Craniosynostosis, Hypoplasia of the radius, Hypospadia... ORPHA:96097
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Dandy-Walker malformation, Right ventricular hypertr... OMIM:267010
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Mucolipidosis Ii Alpha/Beta
Wide mouth, Hepatomegaly, Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Enla... OMIM:252500
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Cerebellar hypoplasia, Polymi... OMIM:604213
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Polydactyly, Renal cyst, Renal insufficiency, Hypogonadism OMIM:615987
Smith-Lemli-Opitz Syndrome
Wide mouth, Cleft palate, Atrioventricular canal defect, Cutis marmorata, Aplasia/Hypoplasia of t... ORPHA:818
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... ORPHA:210122
Tetrasomy 5P
High palate, Respiratory distress, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall muscul... ORPHA:3309
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of hallux, Proximal placeme... OMIM:218530
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Cutis marmorata, Polymicrogyria, Postaxial hand polydactyly, Ventriculomegaly OMIM:615937
Walker-Warburg Syndrome
Hydrocephalus, Cleft palate, Abnormal cerebellar vermis morphology, Polymicrogyria, Microphthalmi... ORPHA:899
Distal Monosomy 10P
Ectopic anus, Anal atresia, Joint stiffness, Clinodactyly of the 5th finger, Hypertelorism, Hypop... ORPHA:1580
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Abnormal pinna morphology, Cleft palate, Postaxial polydactyly, Micr... OMIM:614175
Osteopathia Striata With Cranial Sclerosis
High palate, Apnea, Hydrocephalus, Cleft palate, Overfolded helix, Ventricular septal defect, Omp... OMIM:300373
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly OMIM:616890
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect OMIM:606217
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... OMIM:614377
Agnathia-Otocephaly Complex
Respiratory distress, Conductive hearing impairment, Narrow mouth, Secundum atrial septal defect,... OMIM:202650
Hydrocephalus With Associated Malformations
Hydrocephalus, Tibial bowing, Micrognathia, Short lower limbs, Pulmonary hypoplasia, Omphalocele,... OMIM:236640
Holoprosencephaly 11
Hypotelorism, Cleft palate, Holoprosencephaly, Cleft lip, Proptosis, Polysplenia OMIM:614226
Coffin-Siris Syndrome 1
High palate, Wide mouth, Short sternum, Prominent fingertip pads, Cleft palate, Short philtrum, D... OMIM:135900
Vacterl/Vater Association
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Anencephaly, Abnorma... ORPHA:887
Mental Retardation, Buenos Aires Type
High palate, Dental malocclusion, Hydrocephalus, Clinodactyly of the 5th finger, Pectus excavatum... OMIM:249630
1P36 Deletion Syndrome
Abnormal cardiac septum morphology, 11 pairs of ribs, Pyloric stenosis, Hypogonadism, Rib fusion,... ORPHA:1606
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Conductive hearing impairment, Narrow mouth, 2-3 toe syndactyly, Cleft palate, M... OMIM:239800
Cerebrooculonasal Syndrome
High palate, U-Shaped upper lip vermilion, Hypoplasia of penis, Anophthalmia, Low-set, posteriorl... ORPHA:66625
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Internally rotated shoulders, Talipes equinovarus, Retrognathia, Micrognathia, Campt... OMIM:617468
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Charge Syndrome
Aplasia of the semicircular canal, Cleft palate, Tracheoesophageal fistula, Down-sloping shoulder... OMIM:214800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615938
Atelosteogenesis Type I
Narrow chest, Malrotation of colon, Talipes equinovarus, Cleft palate, Short femur, Abnormal ossi... ORPHA:1190
Pelvis-Shoulder Dysplasia
Hydrocephalus, Cleft palate, Ambiguous genitalia, Absent proximal finger flexion creases, Talipes... ORPHA:2839
Baraitser-Winter Syndrome 1
Sensorineural hearing impairment, Wide mouth, Bicuspid aortic valve, Cleft upper lip, Aortic valv... OMIM:243310
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Wide mouth, Gingival overgrowth, Clinodactyly of the 5th finger, Deeply set eye, Everted upper li... OMIM:618381
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... OMIM:615633
Joubert Syndrome 37
High palate, Deeply set eye, Hepatomegaly, Joint hypermobility, Hypertelorism, Micropenis, Postax... OMIM:619185
Multiple Pterygium Syndrome, Escobar Variant
High palate, Triangular mouth, Cleft palate, Down-sloping shoulders, Ulnar deviation of finger, P... OMIM:265000
Anophthalmia Plus Syndrome
Cleft palate, Anophthalmia, Low-set, posteriorly rotated ears, Deviation of finger, Bilateral cle... ORPHA:1104
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Pachygyria, Renal cyst, Low-set ears, Colpocephaly, Epiph... OMIM:614870
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Joint contracture of the hand, Inguinal hernia, Camptodactyly of toe, Broad hallux... OMIM:175700
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia, Recurrent otitis media OMIM:618948
Aicardi Syndrome
Bifid ribs, Rib fusion, Cleft upper lip, Precocious puberty, Hiatus hernia, Hepatoblastoma, Cleft... ORPHA:50
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Micr... OMIM:617895
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Lateral clavicle hook, Postaxial polydactyly, Preaxial polydactyl... OMIM:615503
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Warburg Micro Syndrome 1
Overlapping toe, Narrow mouth, Deeply set eye, Joint hypermobility, Thin vermilion border, Microg... OMIM:600118
Cornelia De Lange Syndrome 5
High palate, Clinodactyly of the 5th finger, Gastroesophageal reflux, Deeply set eye, Cleft palat... OMIM:300882
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Congenital hip dislocation, Single transverse palmar crease, ... OMIM:308050
Orofaciodigital Syndrome Type 5
High, narrow palate, Tetralogy of Fallot, Postaxial hand polydactyly, Non-midline cleft lip, Agen... ORPHA:2919
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly, Epiphyseal stippling OMIM:614859
Marden-Walker Syndrome
Hydrocephalus, Cleft palate, Abnormality of the upper urinary tract, Abnormal cerebellar vermis m... ORPHA:2461
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Short femur, Holoprosencephaly, Amelia, Anterior encephalocele, Ventricular sept... OMIM:601357
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Wide mouth, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Nephro... OMIM:266920
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Abnormal lip morphology, Cleft ... ORPHA:280
Pallister-Hall Syndrome
Cleft palate, Atrioventricular canal defect, Ventricular septal defect, Ambiguous genitalia, Thyr... ORPHA:672
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Short fourth metatarsal, Micropenis, Polyuria, Brachydactyly, Polydac... OMIM:615994
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Proptosis, Cleft palate, Preaxial hand polydactyly OMIM:601420
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Nabais Sa-De Vries Syndrome, Type 2
High palate, Protruding ear, Clinodactyly of the 5th finger, Gastroesophageal reflux, Hypoplastic... OMIM:618829
1Q21.1 Microduplication Syndrome
Hydrocephalus, Talipes equinovarus, Hypospadias, Tetralogy of Fallot, Hip dislocation, Cryptorchi... ORPHA:250994
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Ventricular septal defect, Abnormal femoral torsion, Long hallux, Deeply set eye... ORPHA:500095
Cousin Syndrome
Hydrocephalus, Ambiguous genitalia, female, Cleft palate, Rhizomelia, Absent proximal finger flex... OMIM:260660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Pachygyria, Left ventricular hypertrophy, Death in childhood, Respiratory insuffic... OMIM:613153
Emanuel Syndrome
High palate, Multiple joint contractures, Hydrocephalus, Cleft palate, Congenital hip dislocation... ORPHA:96170
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Cleft upper lip, Atrial septal defect, Cleft palate, Tracheoma... OMIM:612561
Greenberg Dysplasia
Hepatomegaly, Anterior rib punctate calcifications, Barrel-shaped chest, Micromelia, 11 pairs of ... OMIM:215140
Neu-Laxova Syndrome 1
Cleft palate, Micromelia, Small placenta, Ventricular septal defect, Proptosis, Pulmonary hypopla... OMIM:256520
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Synd... OMIM:173800
Nephrosialidosis
Nephrotic syndrome, Nephropathy, Renal insufficiency, Bone-marrow foam cells, Ascites, Pericardia... OMIM:256150
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Micrognathia, Cerebellar hypoplasia, Hypertelorism, Dandy-Walker malformation ORPHA:1538
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Lymphangioma, Pancreatic cysts, Splenomegaly, Anemia, Fractures ... ORPHA:464329
Holoprosencephaly, Recurrent Infections, And Monocytosis
Short toe, Abnormal pinna morphology, Holoprosencephaly, Micropenis, Brachydactyly, Tapered finge... OMIM:610680
Chromosome 3Q13.31 Deletion Syndrome
High palate, Alobar holoprosencephaly, High, narrow palate, Hypertelorism, Micropenis, Short phil... OMIM:615433
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Low-s... ORPHA:2725
16P13.11 Microdeletion Syndrome
Sensorineural hearing impairment, Wide mouth, Cleft upper lip, Atrial septal defect, Talipes equi... ORPHA:261236
Renal Tubular Dysgenesis
Bilateral single transverse palmar creases, Nephropathy, Multiple renal cysts, Renotubular dysgen... ORPHA:3033
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Abnormality of the dentition, Syndactyly,... OMIM:615982
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Unilateral renal agenesis, ... OMIM:608406
Orofaciodigital Syndrome Type 6
High palate, Apnea, Cleft palate, Finger clinodactyly, Lobulated tongue, Tongue nodules, Central ... ORPHA:2754
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Abnormality of the humerus, Hypoplasia of the ulna, Omphalocele, Microp... ORPHA:3186
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Deeply set eye, Adducted thumb, Micrognathia, Flared metaphysis, Camptoda... OMIM:610758
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Hydrocephalus, Atrial septal defect, Decreased respo... OMIM:220210
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, High palate, Pectus excavatum, Short sternum, Abnormality of the dentit... OMIM:618371
Acrocardiofacial Syndrome
Cleft palate, Ventricular septal defect, Proptosis, Cleft upper lip, Anal atresia, Hypoplasia of ... ORPHA:2008
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormalit... ORPHA:2924
H Syndrome
Histiocytosis, Cleft upper lip, Malabsorption, Hydrocephalus, Gingival overgrowth, Recurrent frac... ORPHA:168569
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Malabsorption, Abnormality of the kidne... ORPHA:85445
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Thanatophoric Dysplasia, Type I
Narrow chest, Metaphyseal irregularity, Hydrocephalus, Small abnormally formed scapulae, Wide-cup... OMIM:187600
Orofaciodigital Syndrome Iii
Pectus excavatum, Short sternum, Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Pos... OMIM:258850
Dpm1-Cdg
U-Shaped upper lip vermilion, Long hallux, Hepatomegaly, High, narrow palate, Micrognathia, Hepat... ORPHA:79322
Weiss-Kruszka Syndrome
Horizontal crus of helix, Bicuspid aortic valve, Protruding ear, Clinodactyly of the 5th finger, ... OMIM:618619
Poland Syndrome
Cone-shaped epiphysis, Abnormality of the humerus, Pectus carinatum, Encephalocele, Sprengel anom... ORPHA:2911
Emanuel Syndrome
High palate, Cleft palate, Congenital hip dislocation, Ventricular septal defect, Anal atresia, D... OMIM:609029
Catel-Manzke Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2n... ORPHA:1388
Inverted Duplicated Chromosome 15 Syndrome
High palate, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Deeply set ... ORPHA:3306
Ring Chromosome 21 Syndrome
Holoprosencephaly, Small hand, Syndactyly, Narrow palm, Cutaneous photosensitivity, Clinodactyly,... ORPHA:1445
Alg3-Cdg
High palate, Decreased liver function, Abnormal pinna morphology, Abnormal uvula morphology, Dand... ORPHA:79321
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Periventricular heterotopia, Polymicrogyria, Proptosis, Simplified g... ORPHA:468631
Monosomy 18P
Abnormal antihelix morphology, Protruding ear, Microphthalmia, Tooth malposition, Cleft palate, H... ORPHA:1598
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Cleft palate, Camptodactyly of finger, Short philtrum... ORPHA:1617
Smith-Magenis Syndrome
Deeply set eye, Velopharyngeal insufficiency, Malar flattening, Everted upper lip vermilion, Abno... OMIM:182290
Mullegama-Klein-Martinez Syndrome
Sensorineural hearing impairment, Abnormal cardiac septum morphology, Clinodactyly of the 5th fin... OMIM:301022
Congenital Disorder Of Glycosylation, Type Iy
Wide mouth, Deeply set eye, Hypospadias, Micrognathia, Widely spaced teeth, Clinodactyly, Macrotia OMIM:300934
Fibrochondrogenesis 1
Abnormal pinna morphology, Cleft palate, Rhizomelia, Proptosis, Omphalocele, Dumbbell-shaped long... OMIM:228520
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Hepatomegaly, Hypertelorism, Flexion contracture, Microretrognathia, Small hand, L... OMIM:300884
Pagod Syndrome
Abnormal clavicle morphology, Renal hypoplasia/aplasia, Hypoplastic left heart, Agonadism, Multic... ORPHA:991
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Deeply set eye, Hypertelorism, Cerebral hemorrhage, Small hand, Retrognathia, Broad finger, Short... OMIM:300845
Bohring-Opitz Syndrome
Tapered finger, Ventricular septal defect, Proptosis, Cleft upper lip, Flexion contracture, Retro... OMIM:605039
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis, Microtia, Micrognathia, Camptodactyly of finger, Hydroureter... ORPHA:2547
Chromosome 9P Deletion Syndrome
High palate, Clinodactyly of the 4th toe, Tapered finger, Ventricular septal defect, Sandal gap, ... OMIM:158170
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Oral cleft, Bilateral microphthalmos, Microphthalmia OMIM:611638
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
D-Bifunctional Protein Deficiency
High palate, Pectus excavatum, Hepatomegaly, Talipes equinovarus, Split hand, Splenomegaly, Retro... OMIM:261515
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Micrognathia, Anophthalmia, Hypoplastic left atriu... OMIM:615524
Arima Syndrome
Wide mouth, Hepatomegaly, Nephronophthisis, Aplasia/Hypoplasia of the cerebellar vermis, Renal co... OMIM:243910
Acrofacial Dysostosis 1, Nager Type
Wide mouth, Hydrocephalus, Absent thumb, Cleft palate, Hypoplasia of the radius, Radioulnar synos... OMIM:154400
Prune Belly Syndrome
Pectus excavatum, Abnormality of the ureter, Congenital hip dislocation, Ventricular septal defec... ORPHA:2970
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Cleft palate, Bifid uvula, Death in infancy, Omphalocele OMIM:258320
Distal Monosomy 12Q
Biliary atresia, Single transverse palmar crease, Broad hallux, Pyloric stenosis, Clinodactyly of... ORPHA:96149
Alagille Syndrome
Short distal phalanx of finger, Protruding ear, Clinodactyly of the 5th finger, Atrial septal def... ORPHA:52
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbb... ORPHA:56304
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Absent frontal sinuses, Chronic otitis media, Communicating hydroc... OMIM:244400
Myhre Syndrome
Cleft palate, Cone-shaped epiphysis, Short philtrum, Ventricular septal defect, Broad ribs, Hypop... OMIM:139210
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Cutis marmorata, Radioulnar synostosis, Single transverse palmar crease, Enamel age... OMIM:614701
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Osteopenia, Elevated circulating aspa... OMIM:619534
Campomelia, Cumming Type
Polycystic liver disease, Lymphedema, Polycystic kidney dysplasia, Bowing of the long bones, Poly... OMIM:211890
Opitz-Kaveggia Syndrome
Dental crowding, Multiple joint contractures, Hydrocephalus, Wide mouth, Prominent fingertip pads... OMIM:305450
Momo Syndrome
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Short sternum, Femoral ... ORPHA:2563
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, 2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Short 2... OMIM:600987
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Broad hallux phalanx, ... ORPHA:380
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma... OMIM:619980
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Wide anterior fontanel, Pectus excavatum, Renal cortical cysts, Micrognathia, Long philtrum, Down... OMIM:618548
1Q21.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Microphthalmia, Ankyloglossia, Cl... ORPHA:250989
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, High palate, Protruding ear, Overjet, Hepatomegaly, Persistence... OMIM:618342
Verheij Syndrome
Abnormal cardiac septum morphology, Renal agenesis, Vertebral fusion, Short 5th finger, Long phil... OMIM:615583
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Bronchio... OMIM:615993
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Abnormality of the dentition, Pectus carinatum, Radioulnar synost... ORPHA:3268
Chromosome 6Pter-P24 Deletion Syndrome