Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
increased circulating creatine kinase level Mks1tm1a(EUCOMM)Wtsi HET Early adult 1.32×10-09

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Viewing: all phenotypes

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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



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
Matching phenotypes Source
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Gastrointestina... ORPHA:1505
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... 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
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Natal tooth, Intestinal malrotation, Patent ductus arteriosus, Anencep... OMIM:249000
Femoral-Facial Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the tibia, Oral cleft, Abnormality of the ribs, Renal hypop... ORPHA:1988
Mosaic Trisomy 9
Polyhydramnios, Hydrops fetalis, Elbow dislocation, Intestinal malrotation, Patent ductus arterio... ORPHA:99776
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Pancreatic fibrosis, Anencephaly, Anophthalmia, Ureteral duplic... ORPHA:564
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Tongue nodules, Polydactyly, Lobulated tongue, Alveolar ridge o... OMIM:311200
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Flared iliac wing, Hydroureter, Camptodactyly, Patent ductus arterio... OMIM:201000
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short nose, Abnormal heart morphology, Anterior hypopituitarism, Micr... OMIM:241800
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thoracic hypoplasia, Ventriculomegaly, Preaxial polydactyly, Postaxial polydactyly, Short ribs, H... OMIM:617866
Stromme Syndrome
Accessory spleen, Hypertelorism, Deeply set eye, Preaxial polydactyly, Intestinal malrotation, Wi... OMIM:243605
Distal Trisomy 17Q
Joint laxity, Vesicoureteral reflux, High palate, Micrognathia, Renal duplication, Hallux valgus,... ORPHA:3379
Mosaic Trisomy 1
Hepatic agenesis, Oral cleft, Long toe, Complete duplication of thumb phalanx, Elbow flexion cont... ORPHA:1692
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Narrow chest, Polydactyly, Postaxial polydactyly, Short distal phalanx of finger, Flat acetabular... OMIM:614091
Edema OMIM:614103
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
C Syndrome
Cryptorchidism, Patent ductus arteriosus, High palate, Clitoral hypertrophy, Micrognathia, Disloc... OMIM:211750
Cryptorchidism, Shield chest, Narrow chest, Polydactyly, Natal tooth, Scrotal hypoplasia, Postaxi... OMIM:612651
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Postaxial hand polydactyly, Hypertelorism, Ho... ORPHA:945
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Underdeveloped nasal alae, Abnormal heart morphology, Periportal fibrosis... OMIM:263210
Polydactyly, Postaxial, Type A6
Postaxial hand polydactyly, Broad phalanges of the 5th finger OMIM:615226
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus c... ORPHA:2570
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Diabetic Embryopathy
Ventricular septal defect, Micrognathia, Low-set, posteriorly rotated ears, Abnormal aortic morph... ORPHA:1926
Genitopalatocardiac Syndrome
Ventricular septal defect, Right aortic arch, Low-set ears, Double outlet right ventricle, Renal ... OMIM:231060
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Delayed eruption of teeth, Midshaft hypospadias, Abnormality of the phil... ORPHA:2863
Odontochondrodysplasia 1
Nephronophthisis, Short phalanx of finger, Narrow chest, Flared iliac wing, Flat acetabular roof,... OMIM:184260
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Bulbous nose, Stillbirth, Renal ... OMIM:236500
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Postaxial polydactyly, Aplasia/Hypoplasia involving bones of the thorax, Renal insufficiency, Sho... ORPHA:397715
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Long philtrum, Hypertelorism, Short phalanx of finger, Overfolded helix, Micropenis, Pericardial ... OMIM:614684
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Trisomy 13
Abnormality of the antihelix, Hydrops fetalis, Patent ductus arteriosus, Bilateral single transve... ORPHA:3378
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Marden-Walker Syndrome
Hypoplasia of the brainstem, Narrow mouth, Camptodactyly, Dextrocardia, Inferior vermis hypoplasi... OMIM:248700
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Preaxial hand polydactyly, Atrial septal defect, Hypertelorism, Ventricular septa... OMIM:263630
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Narrow mouth, Omphalocele, Micrognathia, Hydrocephalus, Macroglossia, Non-midline cleft lip, Clef... ORPHA:3376
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Oligohydramnios, Enlarged kidney, Cystic renal dyspla... OMIM:615415
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Stillbirth, Upper limb phocomelia, Polydactyly, Abnormal heart morpholo... ORPHA:294975
Meckel Syndrome, Type 6
Postaxial hand polydactyly, Hand polydactyly, Anencephaly, Abnormal internal genitalia, Hepatic f... OMIM:612284
Tarp Syndrome
Deep palmar crease, Hypoplasia of the radius, Talipes equinovarus, Horseshoe kidney, Tongue nodul... OMIM:311900
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Short middle phalanx of finger, Preaxial polydactyly, Diastema, Post... OMIM:617927
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Mandibular prognathia, Spinal dysraphism, Anencephaly, Micr... ORPHA:1908
Feingold Syndrome 1
Polyhydramnios, Patent ductus arteriosus, High palate, Micrognathia, Annular pancreas, Esophageal... OMIM:164280
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Downturned corners of mouth, Split hand, Biliary tract abnormality, O... OMIM:194190
Trisomy 1Q
Narrow mouth, Patent ductus arteriosus, Omphalocele, Anophthalmia, Congenital diaphragmatic herni... ORPHA:261344
14Q11.2 Microdeletion Syndrome
Long philtrum, Toe syndactyly, Short nose, Narrow mouth, Ventricular septal defect, Hypertelorism... ORPHA:261120
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Hydroureter, Natal tooth, Choanal atresia, Patent ductus ar... OMIM:146510
Pseudotrisomy 13 Syndrome
Omphalocele, Dextrocardia, Micropenis, Hydrocephalus, Postaxial hand polydactyly, Cyclopia, Compl... OMIM:264480
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Polydactyly, Abnormal sternum morphology, Mandibular progna... OMIM:109400
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Short nose, Dental crowding, Pierre-Robin sequence, Conductive hearing impairment,... OMIM:617877
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Narrow chest, Horizontal ribs, Intestinal malrotation, Hamartom... OMIM:263520
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Craniosynostosis, Patent ductus arteriosus, Biliary tract abnormality, Abnormalit... OMIM:268300
Otopalatodigital Syndrome Type 2
Oligodontia, Tarsal synostosis, Narrow mouth, Narrow chest, Flared iliac wing, Elbow dislocation,... ORPHA:90652
Microgastria-Limb Reduction Defects Association
Secundum atrial septal defect, Intestinal malrotation, Biliary tract abnormality, Anophthalmia, P... OMIM:156810
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Short-Rib Thoracic Dysplasia 12
Natal tooth, Patent ductus arteriosus, Omphalocele, Anencephaly, Respiratory insufficiency, Hamar... OMIM:269860
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Postaxial polydactyly, Intestinal malrotation, Hamartoma of tongue, Short digit,... OMIM:613091
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Natal tooth, Horizontal ribs, Postaxial polydactyly, Hamartoma of tongue, Narrow gr... OMIM:617925
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Epiphyseal stippling, Patent ductus arteriosus, Subependymal cysts, Metatarsus ad... OMIM:214100
Acromelic Frontonasal Dysostosis
Polydactyly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Preaxi... OMIM:603671
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Metaphyseal irregularity, Narrow chest, Horizontal ribs, Pancreatic fibr... OMIM:208500
Cranioectodermal Dysplasia 2
Polyhydramnios, Craniosynostosis, Hydrops fetalis, Joint laxity, Polydactyly, Horizontal ribs, Pa... OMIM:613610
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Truncus arteriosus, Transp... OMIM:217095
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Thin vermilion border, Narrow mouth, Phocomelia, Clitoral hypertrophy, High palat... OMIM:266910
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Pericardial effusion, Bilateral single t... OMIM:235510
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Joint laxity, Short distal phalanx of finger, Chronic kidney disease, High pal... OMIM:218330
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Hypertelorism, Short nose, Pericardial effusion, Wide mouth, Hepatomegaly, Low-set... OMIM:608776
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Atrial septal defect, Hypertelorism, Ventricular septal defect, Macrotia, Pr... OMIM:618142
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Hypertelorism, Downturned corners of mouth, Abnormality of epiphysis morphology, ... ORPHA:93267
Cornelia De Lange Syndrome 1
Cryptorchidism, Downturned corners of mouth, Choanal atresia, Pneumonia, Vesicoureteral reflux, P... OMIM:122470
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Narrow chest, Natal tooth, Patent ductus arteriosus, Postaxial polydactyly, Horiz... OMIM:616300
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Hypertelorism, Abnormal mitral valve morphology, Mandibular progna... ORPHA:1919
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cubitus valgus, Cryptorchidism, Epiphyseal stippling, Abnormal heart morphology, Micrognathia, Ca... OMIM:614866
Distal Tetrasomy 15Q
Hydrocele testis, Abnormality of the kidney, Atrial septal defect, Horseshoe kidney, Abnormal hea... ORPHA:314588
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Cardiofacioneurodevelopmental Syndrome
Hypertelorism, Hypotelorism, Ventricular septal defect, Micrognathia, Camptodactyly, Abdominal si... OMIM:619123
Holoprosencephaly 5
Semilobar holoprosencephaly, Hypertelorism, Hypotelorism, Macrotia, Holoprosencephaly, High palat... OMIM:609637
Fryns Syndrome
Polyhydramnios, Camptodactyly, Intestinal malrotation, Short distal phalanx of finger, Ectopic pa... OMIM:229850
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Polydactyly, Malformation of the hepatic ductal plate, Multicystic ki... OMIM:607361
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Supernumerary ribs, Vertebral fusion, Dextrocardia, Cleft palate, Microphthalmia, Anoph... OMIM:221950
Renal-Hepatic-Pancreatic Dysplasia 1
Patent ductus arteriosus, Intestinal malrotation, Pancreatic fibrosis, Ureteral atresia, Renal in... OMIM:208540
Hypoglossia With Situs Inversus
Situs inversus totalis, Narrow mouth, Polysplenia, Hypodontia, Low-set ears, Asplenia, Microgloss... OMIM:612776
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Joint hypermobility, Open mouth, High, narrow palate, Hip dysplasia, Long philtrum, Recurrent oti... OMIM:618494
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Anomalous pulmonary venous return, Short thorax, Long philtrum, Cryptorc... ORPHA:2311
Intellectual Disability, Wolff Type
Camptodactyly of finger, Broad thumb, Hypertelorism, Thick lower lip vermilion, Macrotia, Microre... ORPHA:3080
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Bulbous nose, Tapered toe, Overfolded helix, Macrovesicular hepatic steatosis, Res... OMIM:608836
Pentalogy Of Cantrell
Abnormality of tibia morphology, Atrial septal defect, Renal agenesis, Ventricular septal defect,... ORPHA:1335
Orofaciodigital Syndrome Vi
Central Y-shaped metacarpal, Tongue nodules, Postaxial polydactyly, High palate, Micrognathia, Mo... OMIM:277170
Renpenning Syndrome
Short philtrum, Abnormal thumb morphology, Narrow mouth, Pectus excavatum, Sprengel anomaly, Mand... ORPHA:3242
Thanatophoric Dysplasia Type 2
Abnormality of the kidney, Atrial septal defect, Holoprosencephaly, Micromelia, Ventriculomegaly,... ORPHA:93274
Catel-Manzke Syndrome
Joint laxity, Ventricular septal defect, Micrognathia, Camptodactyly, High palate, Ulnar deviatio... OMIM:616145
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Hyperechogenic kidneys, Polydactyly, Low-set ears, Cleft ... OMIM:613885
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Conductive ... ORPHA:244
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Nephronophthisis, Postaxial hand polydactyly, Ventricular septal defect, Ventriculom... OMIM:615630
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Craniosynostosis, Broad thumb, Toe syndactyly, Finger sy... ORPHA:65759
Hydrolethalus Syndrome 1
Polyhydramnios, Anencephaly, Micrognathia, Median cleft lip, Postaxial hand polydactyly, Preaxial... OMIM:236680
Tarp Syndrome
Cryptorchidism, Tongue nodules, Postaxial polydactyly, Alveolar ridge overgrowth, Micrognathia, H... ORPHA:2886
8P23.1 Microdeletion Syndrome
Thin vermilion border, Broad thumb, Broad hallux phalanx, Patent ductus arteriosus, Pulmonary art... ORPHA:251071
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Hypertelorism, Conductive hearing... OMIM:136760
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Bifid distal phalanx of toe, Cryptorchidism, Broad thumb, Dental crowding, Cl... OMIM:268310
Meckel Syndrome, Type 4
Postaxial hand polydactyly, Atrial septal defect, Ventricular septal defect, Bowing of the long b... OMIM:611134
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Two carpal ossification centers present at birth, Flared iliac wing, Submucous cleft... OMIM:312870
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Hydrocephalus, Enlarged kidney, Short humerus, Absent radius,... OMIM:314390
Trisomy 17P
Narrow mouth, Patent ductus arteriosus, Oral cleft, High palate, Micrognathia, Hydrocephalus, Wid... ORPHA:261290
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Hypertelorism, Ventricular septal defect, Polydactyly, Ventriculomegaly,... OMIM:602501
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Dextrocardia, Spina bifida occulta, High palate, Micrognathia, Hydrocephal... ORPHA:2437
Sweeney-Cox Syndrome
Short philtrum, Hypertelorism, Narrow mouth, Overfolded helix, Gastroesophageal reflux, Wide nasa... OMIM:617746
Pierpont Syndrome
Thin vermilion border, Broad philtrum, Prominent fingertip pads, Micropenis, Deep palmar crease, ... OMIM:602342
Mosaic Variegated Aneuploidy Syndrome 1
Long philtrum, Cryptorchidism, Ambiguous genitalia, Short nose, Bifid scrotum, Micropenis, Ventri... OMIM:257300
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Premature sternal synostosis, Abnormal heart morphology, Short sternum, Micrognathia OMIM:184800
Nephroblastomatosis, Short nose, Enlarged kidney, Cystic renal dysplasia, Thoracic hypoplasia, Mi... OMIM:608022
Distal Monosomy 7Q36
Bulbous nose, Macrotia, Micrognathia, Holoprosencephaly, Wide mouth, Symphalangism affecting the ... ORPHA:1636
Simpson-Golabi-Behmel Syndrome
Polyhydramnios, Broad thumb, Congenital hip dislocation, Hydroureter, Mandibular prognathia, Abno... ORPHA:373
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Deeply set eye, Microcephaly, Cleft palate, Microphthalmia, Cleft upper lip, C... OMIM:612530
Pseudoaminopterin Syndrome
Clubbing of fingers, Hip subluxation, Postaxial polydactyly, Clinodactyly of the 5th toe, Oral cl... ORPHA:221120
22Q11.2 Duplication Syndrome
Hypertelorism, Interrupted aortic arch, Ventricular septal defect, Micrognathia, Aplasia/Hypoplas... ORPHA:1727
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Cardiomegaly, Multiple rib fractures, Micrognathia, Micropenis, Short... OMIM:616897
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Rena... OMIM:603194
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Short phalanx of finger, High palate, Short femoral neck, Macroglossia, Renal c... OMIM:266920
Microphthalmia With Limb Anomalies
Sandal gap, Anophthalmia, High palate, Postaxial hand polydactyly, Foot oligodactyly, Low-set ear... OMIM:206920
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Wide anterior fontanel, Glutaric aciduria, Generalized aminoaciduria, Proxi... OMIM:231680
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Narrow mouth, Thoracic hypoplasia, Bowing of the long bones, Wide nasal bridge, S... OMIM:224410
Fryns Syndrome
Omphalocele, Short distal phalanx of finger, Cerebral cortical atrophy, Vesicoureteral reflux, Co... ORPHA:2059
Gracile Bone Dysplasia
Aniridia, Ankyloglossia, Micropenis, Slender long bone, Thin ribs, Asplenia, Flared metaphysis, M... OMIM:602361
Holzgreve Syndrome
Hand polydactyly, Renal hypoplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate, Renal ... OMIM:236110
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
8P23.1 Duplication Syndrome
Long philtrum, Toe syndactyly, Hypertelorism, Ventricular septal defect, Deeply set eye, Thick ve... ORPHA:251076
Chromosome 16P13.3 Deletion Syndrome, Proximal
Broad thumb, Micrognathia, Polysplenia, Broad hallux, Hypoplastic left heart, High palate, Clinod... OMIM:610543
Pierpont Syndrome
Thin vermilion border, Joint laxity, Broad philtrum, Prominent fingertip pads, Uplifted earlobe, ... ORPHA:487825
Chromosome 13Q33-Q34 Deletion Syndrome
Open mouth, Camptodactyly, Choanal atresia, Patent ductus arteriosus, Anencephaly, Short thumb, H... OMIM:619148
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Hydroureter, Scrotal hypoplasia, Short distal phalanx of finger,... OMIM:269150
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, ... OMIM:615937
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Overfolded helix, High palate, Bilat... ORPHA:1913
Aplasia/Hypoplasia of the cerebellum, Abnormality of the antihelix, Branchial anomaly, Spinal dys... ORPHA:2162
Cantu Syndrome
Osteoporosis, Short hallux, Long philtrum, Erlenmeyer flask deformity of the femurs, Hypoplastic ... OMIM:239850
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Congenital hip dislocation, Broad thumb, Narrow m... OMIM:304120
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Long philtrum, Simple ear, Accessory spleen, Hypertelorism, Ventricular septal defect, Optic disc... OMIM:619306
Jeune Syndrome
Abnormal clavicle morphology, Nephronophthisis, Abnormality of the ribs, Postaxial hand polydacty... ORPHA:474
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology DECIPHER:39
Acrorenal-Mandibular Syndrome
Narrow palate, Narrow chest, Split hand, Bicornuate uterus, High palate, Micrognathia, Elbow flex... OMIM:200980
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Abnormal sacroiliac joint morphology, Atrial septal def... ORPHA:2655
Axial Mesodermal Dysplasia Spectrum
Hypertelorism, Hydrocephalus, Abnormality of the urinary system, Omphalocele, Abnormality of the ... ORPHA:1834
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Optic disc hypoplasia, Sandal gap, Absent radius, Vesicoureteral ref... OMIM:607323
Hartsfield Syndrome
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Split hand, Low-set, posteriorly rotate... ORPHA:2117
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Oligohydramnios, Hepatic cysts... OMIM:263200
Heterotaxy, Visceral, 1, X-Linked
Single ventricle, Patent ductus arteriosus, Dextrocardia, Double outlet right ventricle, Cardiome... OMIM:306955
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Trisomy 18
Narrow palate, Narrow mouth, Choanal atresia, Omphalocele, Anencephaly, Bilateral single transver... ORPHA:3380
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Narrow mouth, Omphalocele, Oral cleft, Renal hypoplasia/aplasia, Mi... ORPHA:2166
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Clinodactyly, Microphthalmia, Brachydactyly OMIM:233270
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Cryptorchidism, Bifid scrotum, Pectus carinatum, Hepatocellular... ORPHA:3134
Ulbright-Hodes Syndrome
Cryptorchidism, Thin vermilion border, Narrow mouth, Phocomelia, Abnormality of the ribs, High pa... ORPHA:3404
Postaxial hand polydactyly, Agenesis of corpus callosum, Absent septum pellucidum, Arrhinencephal... ORPHA:2189
Alveolar Echinococcosis
Abnormality of mesentery morphology, Vertigo, Hepatic cysts, Abnormal pelvis bone morphology, Bon... ORPHA:284
Autosomal Recessive Robinow Syndrome
Open bite, Cryptorchidism, Broad thumb, Downturned corners of mouth, Elbow dislocation, Split han... ORPHA:1507
Congenital Heart Defects, Multiple Types, 6
Single ventricle, Ventricular septal defect, Complete atrioventricular canal defect, Secundum atr... OMIM:613854
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Thin vermilion border, Patent ductus arteriosus, Arnold-Chiari malformation, Micrognathia, Microp... ORPHA:171839
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Ventriculomegaly, Megalencephaly, Polymicrogyria, Hydrocephalus OMIM:615938
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Bowing of the legs, Joint stiffness, Anophthalmi... ORPHA:93323
Miller-Dieker Syndrome
Short nose, Hypoplasia of the corpus callosum, Omphalocele, Nephropathy, Cerebral cortical atroph... ORPHA:531
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Ventricular septal defect OMIM:613751
Distal Monosomy 13Q
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Renal hypoplasia/apl... ORPHA:1590
Robinow Syndrome
Cryptorchidism, Dental crowding, Scrotal hypoplasia, Short distal phalanx of finger, Oral cleft, ... ORPHA:97360
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Crossed fused renal ectopia, Elbow dislocation, Intestinal malrotation, Abnormality ... ORPHA:2538
Rhyns Syndrome
Nephronophthisis, Abnormality of long bone morphology, Hypoplastic ilia, Deeply set eye, Multicys... ORPHA:140976
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Narrow chest, Patent ductus arteriosus, High palate, Micrognathia, Microdontia of primary teeth, ... OMIM:213980
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Dextrocardia, High, narrow palate, Micrognathia, Micropenis, Long phil... ORPHA:96092
Acrocephalopolydactylous Dysplasia
Postaxial hand polydactyly, Craniosynostosis, Short nose, Hypertelorism, Enlarged kidney, Cystic ... OMIM:200995
Focal Dermal Hypoplasia
Open bite, Abnormal dental enamel morphology, Split hand, Patent ductus arteriosus, Omphalocele, ... ORPHA:2092
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Recurrent urinary tract infections, Dextrocardia, Polycyst... OMIM:613095
Cystic Echinococcosis
Peritoneal abscess, Elevated hepatic transaminase, Abnormal heart morphology, Hepatic cysts, Bone... ORPHA:400
Tonne-Kalscheuer Syndrome
Cryptorchidism, Broad thumb, Narrow mouth, Downturned corners of mouth, Abnormal heart morphology... OMIM:300978
Hydrolethalus Syndrome 2
Hydrocephalus, Micrognathia, Ventriculomegaly, Preaxial polydactyly, Postaxial polydactyly, Anenc... OMIM:614120
Caudal Regression Sequence
Talipes equinovarus, Cryptorchidism, Ambiguous genitalia, Renal agenesis, Arrhinencephaly, Abnorm... ORPHA:3027
Mmep Syndrome
Ventricular septal defect, Mandibular prognathia, Oral cleft, Split foot, Microphthalmia, Triphal... ORPHA:3434
Ciliary Dyskinesia, Primary, 14
Abnormal ciliary motility, Situs inversus totalis, Ciliary dyskinesia, Absent inner dynein arms, ... OMIM:613807
Cardiospondylocarpofacial Syndrome
Long philtrum, Tarsal synostosis, Horseshoe kidney, Cone-shaped epiphysis, Rib fusion, Carpal syn... OMIM:157800
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Arthrogryposis multiplex congenita, Low-set ears, Edema, Microphthalmia, Clef... OMIM:616570
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
49,Xxxxy Syndrome
Open bite, Abnormal dental enamel morphology, Carious teeth, Elbow dislocation, Mandibular progna... ORPHA:96264
Smith-Lemli-Opitz Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal dental enamel morphology, Split hand, Choanal atre... ORPHA:818
Biemond Syndrome Type 2
Preaxial polydactyly, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Hydrocephalus ORPHA:141333
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Cryptorchidism, Bifid scrotum, Pectus carinatum, Short sternum,... OMIM:312830
Mucopolysaccharidosis-Plus Syndrome
Flared iliac wing, Macrovesicular hepatic steatosis, Patent ductus arteriosus, Neutropenia, Aceta... OMIM:617303
16P13.11 Microduplication Syndrome
Craniosynostosis, Atrial septal defect, Hand polydactyly, Ventricular septal defect, Joint hyperf... ORPHA:261243
Marshall-Smith Syndrome
Prominence of the premaxilla, Choanal atresia, Patent ductus arteriosus, Short distal phalanx of ... OMIM:602535
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Broad thumb, Ventricular septal defect, Deeply set eye, 2-3 toe syndactyly,... OMIM:600987
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Truncus arteriosus, Deeply set eye, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:612474
Autosomal Recessive Multiple Pterygium Syndrome
Cryptorchidism, Abnormal sternum morphology, Scrotal hypoplasia, Oral cleft, Spina bifida occulta... ORPHA:2990
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the philtrum, Microretrognathia, Deeply set eye, Chronic otitis media, Abnormality... ORPHA:276422
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Renal hypoplasia, Short middle pha... OMIM:617926
Oligodontia, Narrow chest, Natal tooth, High palate, Micrognathia, Hypoplastic vertebral bodies, ... OMIM:224300
6P22 Microdeletion Syndrome
Overfolded helix, Finger syndactyly, Abnormal palate morphology, Deeply set eye, Patent ductus ar... ORPHA:251046
Femoral-Facial Syndrome
Cryptorchidism, Short fifth metatarsal, Abnormal renal collecting system morphology, Underdevelop... OMIM:134780
Frank-Ter Haar Syndrome
Camptodactyly of finger, Delayed eruption of teeth, Osteolysis, Short philtrum, Hypertelorism, Ma... ORPHA:137834
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cubitus valgus, Cryptorchidism, Abnormal heart morphology, Camptodactyly, Clitoral hypertrophy, A... OMIM:214110
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Abnormal periventricular white matter morphology, Abnormal renal collectin... ORPHA:468631
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Cholestasis,... OMIM:615382
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Atresia of the external auditory canal, Omphalocele, Oral cleft, Phocomelia, Renal hypoplasia/apl... ORPHA:3186
Meckel diverticulum, Abnormal renal morphology, Situs inversus totalis, Congenital hip dislocatio... ORPHA:1666
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Pancreatic cysts, H... ORPHA:730
Disorganization, Mouse, Homolog Of
Limb duplication, Hand polydactyly, Sensorineural hearing impairment, Cleft upper lip, Cleft pala... OMIM:223200
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Stillbirth, Hitchhiker thumb, Short middle phalanx of finger, Short greate... OMIM:256050
Genitopalatocardiac Syndrome
Abnormality of mesentery morphology, Postaxial hand polydactyly, Hypertelorism, Downturned corner... ORPHA:2075
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Polydactyly, Hepatic cysts, Pancreatic cysts, Renal hypoplasi... OMIM:614377
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the pancrea... ORPHA:3032
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Posterior rib fusion, Misalignment of the pulmonary veins, Hydroureter, Intestina... OMIM:265380
Harrod Syndrome
Cryptorchidism, Malrotation of small bowel, Narrow mouth, High palate, Pyloric stenosis, Dental m... OMIM:601095
Chime Syndrome
Transposition of the great arteries, Aplastic clavicle, Abnormality of the kidney, Acute leukemia... ORPHA:3474
Perlman Syndrome
Thickened helices, Abnormality of upper lip, Short nose, Open mouth, Deeply set eye, High, narrow... ORPHA:2849
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, Thickened helices, Polyhydramni... OMIM:616809
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Epiphyseal stippling, Polycystic kidney dysplasia, Wide nasal bridge OMIM:614859
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Hepatic cysts, Short ribs, Short long bone, Stage 5 chronic kidney disease, Brachyda... OMIM:613819
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Cerebral berry aneurysm, Polycystic kidney dysplasia, Colonic... OMIM:173900
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Overfolded helix, Camptodactyly, Duplicated collecting system, Peripheral pulmonary artery stenos... OMIM:280000
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Rocker bottom foot, Thin vermilion border, Arthrogryposis multiplex congenita, Long... OMIM:214150
Orofaciodigital Syndrome Type 3
Postaxial hand polydactyly, Bulbous nose, Thoracic kyphosis, Pectus excavatum, Short sternum, Ham... ORPHA:2752
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia, Finger syndactyly, Upper limb asymmetry, Aplasi... ORPHA:2141
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Camptodactyly, Omphalocele, Triangular mouth, Micrognathia, Long philtrum, Clinodact... OMIM:618529
Satb2-Associated Syndrome Due To A Pathogenic Variant
Joint hypermobility, Long philtrum, Broad thumb, Drooling, Micrognathia, Dysphagia, High palate, ... ORPHA:576283
Autosomal Dominant Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia, Short thorax, Posterior rib fusion, Wide nasal ... ORPHA:1797
Bardet-Biedl Syndrome 17
Situs inversus totalis, Mesoaxial polydactyly, Polydactyly, Dextrocardia, Renal cyst, Stage 5 chr... OMIM:615994
Aicardi Syndrome
Hiatus hernia, Spina bifida, Prominence of the premaxilla, Choroid plexus cyst, Hepatoblastoma, R... OMIM:304050
Burn-Mckeown Syndrome
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Hypertelorism, Ventric... OMIM:608572
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Arthrogryposis multiplex congenita, Cutaneous syndactyly, Short nose, Overla... OMIM:617822
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Aplasia/Hypoplasia of the cerebellum, Situs inversus totalis, Respiratory dis... ORPHA:990
Distal Trisomy 5Q
Long philtrum, Hypoplasia of the radius, Craniosynostosis, Carious teeth, Short nose, Thin vermil... ORPHA:96097
Chromosome 20Q11-Q12 Deletion Syndrome
Short philtrum, Hypertelorism, Finger clinodactyly, Tarsal osteovalgus, Camptodactyly, Deeply set... OMIM:614257
Agnathia-Otocephaly Complex
Mandibular aplasia, Situs inversus totalis, Respiratory distress, Narrow mouth, Laryngeal hypopla... OMIM:202650
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Overfolded helix, Camptodactyly, Natal tooth, Patent ductus arteriosus, Omphaloc... OMIM:300373
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Hypertelorism, Broad palm, Short palm, Intestinal malrotation, Bilater... OMIM:601165
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Pachygyria, Wide nasal bridge, Hepatomegaly, Decreased liver function, Rena... OMIM:614870
Coach Syndrome 2
Elevated hepatic transaminase, Hydrocephalus, Cerebellar vermis hypoplasia, Hepatic fibrosis, Apn... OMIM:619111
Monosomy 18P
Carious teeth, Short philtrum, Tooth malposition, Abnormality of the antihelix, Downturned corner... ORPHA:1598
Orofaciodigital Syndrome Type 6
Central Y-shaped metacarpal, Tongue nodules, Hamartoma of tongue, Lobulated tongue, Renal hypopla... ORPHA:2754
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Hypertelorism, Open mouth, Macrotia, Everted lower lip vermilion, Wide mouth, Low-s... OMIM:616789
Microphthalmia, Syndromic 9
Single ventricle, Patent ductus arteriosus, Multilobulated spleen, Pelvic kidney, Anophthalmia, M... OMIM:601186
Hyperphosphatasia With Mental Retardation Syndrome 1
Downturned corners of mouth, Mandibular prognathia, Short distal phalanx of finger, Sensorineural... OMIM:239300
Baraitser-Winter Syndrome 1
Overfolded helix, Patent ductus arteriosus, Oral cleft, Sensorineural hearing impairment, Micrope... OMIM:243310
Limited elbow extension, Brain stem compression, Trident hand, Rhizomelia, Conductive hearing imp... OMIM:100800
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Camptodactyly, Recurrent urinary tract infections, Patent ductus arteriosus, Thin ... ORPHA:363444
Meckel Syndrome, Type 11
Polydactyly, Oligohydramnios OMIM:615397
Oculoauriculovertebral Spectrum With Radial Defects
Triphalangeal thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyly, Conductiv... ORPHA:2549
Tetrasomy 5P
Lipoma of corpus callosum, Pulmonary arterial hypertension, High palate, Cyanosis, Micrognathia, ... ORPHA:3309
20Q11.2 Microdeletion Syndrome
Short philtrum, Hypertelorism, Finger clinodactyly, Camptodactyly, Deeply set eye, Hearing impair... ORPHA:444051
Ververi-Brady Syndrome
Hypertelorism, Metaphyseal irregularity, Macrotia, Everted lower lip vermilion, Wide mouth, Smoot... OMIM:617982
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Intestinal malrotation, Hepatomegal... ORPHA:1759
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Hypertelorism, Delayed ossification of carpal bones, Hepatic cysts, Lymph... OMIM:617425
Becker Nevus Syndrome
Abnormality of tibia morphology, Abnormality of the scrotum, Pectus carinatum, Supernumerary nipp... ORPHA:64755
Hennekam Syndrome
Craniosynostosis, Hydrops fetalis, Narrow mouth, Pericardial effusion, Lymphangioma, Lymphadenopa... ORPHA:2136
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Atrial septal defect, Cutaneous syndactyly, Hypertelorism, Overlapping toe, ... OMIM:618316
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Cryptorchidism, Narrow mouth, Narrow chest, Abnormal heart morphology, Broad... ORPHA:1865
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Atrial septal defect, Posterior rib fusion, Ventricular septal defect,... OMIM:608406
Joubert Syndrome 1
Hypoplasia of the brainstem, Dysgenesis of the cerebellar vermis, Triangular-shaped open mouth, M... OMIM:213300
Meier-Gorlin Syndrome 7
Cryptorchidism, Narrow mouth, Choanal atresia, Bowing of the legs, Vesicoureteral reflux, High pa... OMIM:617063
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Choroid plexus cyst, Pancreatic cysts, Biliary cirr... OMIM:267010
Aarskog-Scott Syndrome
Oral cleft, Hypoplasia of the maxilla, Long philtrum, Joint hyperflexibility, External ear malfor... ORPHA:915
Mental Retardation, Buenos Aires Type
Carious teeth, Atrial septal defect, Pectus carinatum, Pectus excavatum, High palate, Mandibular ... OMIM:249630
Charlie M Syndrome
Short philtrum, Thin vermilion border, Hypertelorism, Narrow mouth, Finger syndactyly, Micrognath... ORPHA:1406
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Developmental And Epileptic Encephalopathy 36
Hypertelorism, Flexion contracture, Cerebral atrophy, Hepatomegaly, Microcephaly, Anteverted nare... OMIM:300884
16P13.11 Microdeletion Syndrome
Atresia of the external auditory canal, Sensorineural hearing impairment, Exaggerated cupid's bow... ORPHA:261236
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplas... OMIM:604213
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, 1-3 toe syndactyly, Preaxial hand polydactyly, Camptodac... OMIM:175700
Stillbirth OMIM:265880
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Absent gallbladder, Int... ORPHA:210122
Bardet-Biedl Syndrome 22
Polydactyly OMIM:617119
Melnick-Needles Syndrome
Omphalocele, Respiratory insufficiency, Short distal phalanx of finger, Vesicoureteral reflux, Sh... ORPHA:2484
Smith-Lemli-Opitz Syndrome
Hip subluxation, Epiphyseal stippling, Periventricular heterotopia, Dental crowding, Patent ductu... OMIM:270400
Greenberg Dysplasia
Tracheal calcification, Epiphyseal stippling, Short phalanx of finger, Narrow chest, Intestinal m... OMIM:215140
1P36 Deletion Syndrome
Cryptorchidism, Narrow mouth, Patent ductus arteriosus, Abnormality of the kidney, Annular pancre... ORPHA:1606
Acro-Renal-Mandibular Syndrome
Split hand, Aplasia/Hypoplasia of the tongue, Oral cleft, Bicornuate uterus, High palate, Renal h... ORPHA:958
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Hydroureter, Mandibular prog... OMIM:259775
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Chromosome 1P36 Deletion Syndrome
Cryptorchidism, Camptodactyly, Patent ductus arteriosus, Oral cleft, Metatarsus adductus, Patent ... OMIM:607872
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Multiple renal cysts, Nar... ORPHA:1190
Bardet-Biedl Syndrome 10
Polydactyly, Renal cyst, Renal insufficiency, Hypogonadism, Abnormality of the kidney OMIM:615987
Acrocallosal Syndrome
Thin vermilion border, Hypoplasia of teeth, Open mouth, Rectovaginal fistula, Triangular mouth, H... OMIM:200990
Coffin-Siris Syndrome 1
Cryptorchidism, Hydroureter, Choanal atresia, Patent ductus arteriosus, Intestinal malrotation, S... OMIM:135900
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Ectodermal dysplasia, Co... OMIM:129540
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Hypoplasia of the radius, Lateral clavicle hook, Ambiguous genitalia, Narrow chest... OMIM:617895
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow disloc... ORPHA:1106
Marden-Walker Syndrome
Arthrogryposis multiplex congenita, Narrow mouth, Hydroureter, Dextrocardia, Metatarsus adductus,... ORPHA:2461
Kbg Syndrome
Long philtrum, Oligodontia, Cryptorchidism, Underdeveloped nasal alae, Thoracic kyphosis, Rib fus... OMIM:148050
Developmental Delay With Or Without Dysmorphic Facies And Autism
Bulbous nose, Laryngotracheomalacia, Patent ductus arteriosus, Cerebral cortical atrophy, Vesicou... OMIM:618454
Walker-Warburg Syndrome
Anophthalmia, Hydrocephalus, Pachygyria, Ventriculomegaly, Cleft palate, Metatarsus valgus, Bifid... ORPHA:899
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Absent septum pellucidum, Holoprosencephaly, Foot oligoda... OMIM:601357
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Vacterl/Vater Association
Omphalocele, Anencephaly, Aplasia/Hypoplasia of the lungs, Abnormality of the urethra, Congenital... ORPHA:887
Thomas Syndrome
Hypertelorism, Oligohydramnios, Multicystic kidney dysplasia, Hypoplastic left heart, Cleft upper... ORPHA:3316
Ring Chromosome 21 Syndrome
Azoospermia, Abnormal heart morphology, Holoprosencephaly, Narrow palm, Clinodactyly, Syndactyly,... ORPHA:1445
Bardet-Biedl Syndrome 6
Polydactyly, External genital hypoplasia, Syndactyly, Renal cyst, Hypospadias OMIM:605231
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx of 5th finger, Abs... OMIM:218530
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Tooth agenesis, Vesi... ORPHA:1166
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Craniosynostosis, Hand polydactyly, Hypertelorism, Abnormal heart morpholog... ORPHA:261197
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Renal insufficiency, Hypertelorism, Cyclopia, Holoprosencephaly, Abnormality of... ORPHA:2165
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Polymicrogyria, Cortical dysplasia, Microphth... OMIM:615771
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Narrow chest, Micromelia, Preaxial polydactyly, Postaxial polydactyly, Shor... OMIM:616546
Acrofacial Dysostosis 1, Nager Type
Atresia of the external auditory canal, Patent ductus arteriosus, Absent radius, Triphalangeal th... OMIM:154400
Multiple Pterygium Syndrome, Escobar Variant
Cryptorchidism, Narrow mouth, Downturned corners of mouth, High palate, Micrognathia, Rocker bott... OMIM:265000
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis OMIM:217085
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, Hypertelorism, Narrow mouth, Abnormal heart morphology, Conductive hearing... OMIM:239800
Holoprosencephaly 11
Holoprosencephaly, Polysplenia, Proptosis, Cleft lip, Cleft palate, Hypotelorism OMIM:614226
Hydrocephalus With Associated Malformations
Omphalocele, Tibial bowing, Pulmonary hypoplasia, Lower limb undergrowth, Short lower limbs, Micr... OMIM:236640
Neu-Laxova Syndrome 1
Short umbilical cord, Camptodactyly, Patent ductus arteriosus, Patent foramen ovale, Micrognathia... OMIM:256520
Distal Monosomy 12Q
Bulbous nose, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Vesicoureteral ... ORPHA:96149
Cerebrooculonasal Syndrome
Long philtrum, Postaxial hand polydactyly, Hypertelorism, Macrotia, Low-set, posteriorly rotated ... ORPHA:66625
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimuation ... OMIM:220210
Renal Tubular Dysgenesis
Multiple renal cysts, Hypertelorism, Proximal tubulopathy, Renotubular dysgenesis, Bilateral sing... ORPHA:3033
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Absence of renal corticomedullary diff... OMIM:602088
Joubert Syndrome 14
Short philtrum, Hypertelorism, Open mouth, Deeply set eye, Postaxial polydactyly, Tented upper li... OMIM:614424
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Submucous cleft lip, Cough, Patent ductus arteriosus... ORPHA:96170
Anophthalmia Plus Syndrome
Spina bifida, Hypertelorism, Low-set, posteriorly rotated ears, Anophthalmia, Bilateral cleft lip... ORPHA:1104
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Bulbous nose, Tongue nodules, Pectus excavatum, Short sternum, Bifid ... OMIM:258850
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Holoprosencephaly 9
Hypoplasia of the premaxilla, Anterior pituitary hypoplasia, Solitary median maxillary central in... OMIM:610829
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short philtrum, Open mouth, Everted lower lip vermilion, Deeply set eye, Smooth philtrum, Abnorma... OMIM:618342
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility, Thin vermilion border, Narrow mouth, Overlapping toe, Macrotia... OMIM:600118
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Lateral clavicle hook, Narrow chest, Horizontal ribs, Postaxial polydactyly, Bell... OMIM:615633
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Hip dysplasia, Short philtrum, Micrognathia, Deep philtrum, Deeply set eye, Wide mouth, Smooth ph... OMIM:618381
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Accessory spleen, Ventricular septal defect, Dysplastic t... OMIM:618280
Cornelia De Lange Syndrome 5
Limited elbow extension, Thin vermilion border, Long philtrum, Toe syndactyly, Hypertelorism, Dow... OMIM:300882
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Short finger, Micropenis, Abnormality of the pinna, Tapered finger, Short toe,... OMIM:610680
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Epiphyseal stippling, Renal agenesis, Congenital hip dislocation, Single ve... OMIM:308050
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Omphalocele, Hypoplastic ischia, Narrow greater sciatic notch, Paten... OMIM:228520
Miller-Dieker Lissencephaly Syndrome
Polydactyly, Camptodactyly, Omphalocele, Agyria, Pelvic kidney, Micrognathia, Deep palmar crease,... OMIM:247200
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Recurrent otitis media, Asplenia, Situs inversus totalis OMIM:618948
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Lateral clavicle hook, Narrow chest, Ventricular septal defect, Preaxial pol... OMIM:615503
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Isolated Polycystic Liver Disease
Multiple renal cysts, Gastrointestinal hemorrhage, Polycystic liver disease, Gastroesophageal ref... ORPHA:2924
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Long philtrum, Renal cortical cysts, Downturned corners of mouth, Wide anterior fontanel, Pectus ... OMIM:618548
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Finger syndactyly, Abnormality ... ORPHA:1263
Campomelic Dysplasia
Micrognathia, Femoral bowing, Hydrocephalus, Depressed nasal bridge, Hypoplastic cervical vertebr... OMIM:114290
Smith-Magenis Syndrome
Abnormal renal morphology, Abnormality of the forearm, Broad palm, Abnormal heart morphology, Man... OMIM:182290
Simpson-Golabi-Behmel Syndrome, Type 2
Hypertelorism, Congenital hip dislocation, Short nose, Broad palm, Micropenis, Short finger, High... OMIM:300209
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Postaxial polysyndactyly of foot, Crossed fused renal ectopia, Abnormality of ... ORPHA:2919
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Patent ductus arteriosus, Broad jaw, High palate, Mi... OMIM:609029
H Syndrome
Abnormality of the kidney, Osteolysis, Azoospermia, Hydrocephalus, Enlarged kidney, Microcytic an... ORPHA:168569
Chromosome 18Q Deletion Syndrome
Downturned corners of mouth, Mandibular prognathia, Atresia of the external auditory canal, Paten... OMIM:601808
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Hemifacial Microsomia
Anotia, Branchial anomaly, Atresia of the external auditory canal, Patent ductus arteriosus, Vesi... OMIM:164210
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Acetabular dysplasia, Micrognathia, Fifth finger distal phalanx clinodactyly,... ORPHA:2839
Opitz-Kaveggia Syndrome
Broad thumb, Narrow palate, Dental crowding, Split hand, Camptodactyly, Choanal atresia, Sensorin... OMIM:305450
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Proptosis, Preaxial hand polydactyly, Cleft upper lip, Cleft palate OMIM:601420
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Situs inversus totalis, Rib fusion, Dextrocardia, Spina bifida occulta, Abnormality... OMIM:613686
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Hypertelorism, Narrow mouth, Hydrocephalus, Ventricular septal defect... ORPHA:83473
Distal Monosomy 10P
Hypertelorism, Macrotia, Micrognathia, Low-set, posteriorly rotated ears, Abnormality of the elbo... ORPHA:1580
Craniofacial Dyssynostosis
Short philtrum, Hypertelorism, Underdeveloped nasal alae, Open mouth, Micrognathia, Hypoplasia of... ORPHA:1516
Inverted Duplicated Chromosome 15 Syndrome
Joint hypermobility, Short philtrum, Drooling, Ventricular septal defect, Low-set, posteriorly ro... ORPHA:3306
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Abnormal heart morphology, Enlarged kidney, Nephropathy, ... ORPHA:85445
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, Preaxial hand polydactyly, Toe syndactyly, Finger syndac... ORPHA:380
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal femoral torsion, Camptodactyly, Metatarsus adductus, Sensorineural hearing impairment, S... ORPHA:500095
Bohring-Opitz Syndrome
Polyhydramnios, Narrow palate, Hyperechogenic pancreas, Camptodactyly, Intestinal malrotation, Ve... OMIM:605039
Wolf-Hirschhorn Syndrome
Cryptorchidism, Abnormality of the philtrum, Downturned corners of mouth, Split hand, Abnormal th... ORPHA:280
Microphthalmia, Syndromic 12
Broad nasal tip, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary... OMIM:615524
Tetrasomy 9P
Abnormal dental enamel morphology, Bulbous nose, Pericarditis, Dental crowding, Downturned corner... ORPHA:3310
Campomelia, Cumming Type
Lymphedema, Pancreatic cysts, Polysplenia, Bowing of the long bones, Polycystic liver disease, Po... OMIM:211890
Poland Syndrome
Hypoplasia of deltoid muscle, Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly,... OMIM:173800
Fontaine Progeroid Syndrome
Prematurely aged appearance, Oligodontia, Narrow mouth, Periventricular heterotopia, Mandibular p... OMIM:612289
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hypertelorism, Cerebellar hypoplasia, Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Omphalocele, Aqueductal stenosis, Tibial bowing, Pulmona... ORPHA:3035
Atelosteogenesis Type Ii
Short phalanx of finger, Narrow chest, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal... ORPHA:56304
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Arima Syndrome
Nephronophthisis, Hypoplasia of the brainstem, Aplasia/Hypoplasia of the cerebellar vermis, Molar... OMIM:243910
Weiss-Kruszka Syndrome
Short nose, Ventricular septal defect, Broad philtrum, Overfolded helix, Single transverse palmar... OMIM:618619
Chromosome 15Q25 Deletion Syndrome
Hypertelorism, Tented upper lip vermilion, Dextrocardia, Cleft upper lip, Cleft palate, Abnormal ... OMIM:614294
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cleft pal... OMIM:164180
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Hypertelorism, Radioulnar synostosis, Craniofacial hyperostosis, Low-set, posteriorly rotated ear... ORPHA:2725
Alagille Syndrome
Short philtrum, Atrial septal defect, Hypertelorism, Reduced number of intrahepatic bile ducts, V... ORPHA:52
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Narrow mouth, Omphalocele, Sandal gap, Short distal pha... OMIM:311300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebra... OMIM:613153
Turnpenny-Fry Syndrome
Narrow mouth, Narrow chest, Dental crowding, Mandibular prognathia, Patent ductus arteriosus, Hig... OMIM:618371
Pallister-Hall Syndrome
Cryptorchidism, Broad thumb, Bilateral renal agenesis, Natal tooth, Choanal atresia, Supernumerar... ORPHA:672
Cofs Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Arthrogryposis multiplex congenita... ORPHA:1466
Mosaic Trisomy 14
Camptodactyly of finger, Cryptorchidism, Anteverted nares, Narrow chest, High palate, Wide mouth,... ORPHA:1703
Schinzel-Giedion Syndrome
Camptodactyly, Abnormal thorax morphology, Short distal phalanx of finger, High palate, Micrognat... ORPHA:798
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Hypertelorism, Ventricular septal defect, Abnormal... ORPHA:1388
Mohr Syndrome
Accessory oral frenulum, Metaphyseal irregularity, Tongue nodules, Lobulated tongue, High palate,... OMIM:252100
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Polyhydramnios, Camptodactyly of finger, Short nose, Hydroureter, Patent ductus arteriosus, Symph... ORPHA:2547
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Osteolysis, Multiple renal cysts, Abnormality of the ischium, Enlarg... ORPHA:464329
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Nephronophthisis, Hypoplasia of the brainstem, Dysgenesis... OMIM:608091
Myhre Syndrome
Narrow mouth, Mandibular prognathia, Camptodactyly, Pericardial effusion, Patent ductus arteriosu... OMIM:139210
Ivic Syndrome
Limited wrist movement, Carpal bone hypoplasia, Intestinal malrotation, Patent ductus arteriosus,... OMIM:147750
Aicardi Syndrome
Hip dysplasia, Hiatus hernia, Short philtrum, Prominence of the premaxilla, Ventriculomegaly, Rib... ORPHA:50
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Situs inversus totalis, Conductive hearing impairment, Ciliary dyskinesia, Chr... OMIM:244400
Congenital Disorder Of Glycosylation, Type Iy
Macrotia, Deeply set eye, Wide mouth, Clinodactyly, Hypospadias, Micrognathia, Widely spaced teeth OMIM:300934
Donnai-Barrow Syndrome
Hypertelorism, Wide anterior fontanel, Short nose, Ventricular septal defect, Aplasia/Hypoplasia ... ORPHA:2143
Acrocardiofacial Syndrome
Split hand, Abnormality of the metacarpal bones, Hallux valgus, Truncus arteriosus, Low-set ears,... ORPHA:2008
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Postaxial hand polydactyly, Hypertelorism, Elevated hepatic transami... OMIM:216360
Bardet-Biedl Syndrome 4
Cryptorchidism, Polydactyly, Abnormality of the dentition, External genital hypoplasia, Syndactyl... OMIM:615982
Pagod Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Spina bifida, Abnormality of the uterus, S... ORPHA:991
1Q21.1 Microduplication Syndrome
Hip dysplasia, Talipes equinovarus, Cryptorchidism, Tetralogy of Fallot, Hypospadias, Hip disloca... ORPHA:250994
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Occipital cortical atrophy, Bulbous nose, Anteverted nares, Broad nasal tip, Hypo... ORPHA:411986
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Bilateral microphthalmos, Oral cleft, Microphthalmia, Anophthalmia OMIM:611638
Floating-Harbor Syndrome
Cryptorchidism, Carious teeth, Oligodontia, Shield chest, Short thumb, Short clavicles, Broad fin... ORPHA:2044
Meckel Syndrome, Type 5
Postaxial hand polydactyly, Bowing of the long bones, Abnormality of the urinary system, Anenceph... OMIM:611561
Vacterl With Hydrocephalus
Anotia, Spina bifida, Hypoplasia of the radius, Renal agenesis, Hydrocephalus, Arrhinencephaly, A... ORPHA:3412
Kagami-Ogata Syndrome
Patent ductus arteriosus, Omphalocele, Pulmonary arterial hypertension, Micrognathia, Hypoplasia ... OMIM:608149
Genitopatellar Syndrome
Arthrogryposis multiplex congenita, Hypoplastic ischia, Micrognathia, Wide nose, Long philtrum, R... ORPHA:85201
Poland Syndrome
Absent hand, Cryptorchidism, Split hand, Abnormal sternum morphology, Duplicated collecting syste... ORPHA:2911
Johnson Neuroectodermal Syndrome
Carious teeth, Ventricular septal defect, Conductive hearing impairment, Atresia of the external ... OMIM:147770
Cerebrofaciothoracic Dysplasia
Short nose, Narrow chest, Sprengel anomaly, Ventriculomegaly, Rib fusion, Wide mouth, Cleft upper... ORPHA:1394
Joubert Syndrome With Ocular Defect
Apnea, Hand polydactyly, Agenesis of corpus callosum, Anteverted nares, Low-set, posteriorly rota... ORPHA:220493
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Omphalocele, Cleft palate, Bifid uvula, Hydrocephalus OMIM:258320
Mullegama-Klein-Martinez Syndrome
Long philtrum, Short philtrum, Polydactyly, Micrognathia, Coarctation of aorta, Smooth philtrum, ... OMIM:301022
D-Bifunctional Protein Deficiency
Long philtrum, Talipes equinovarus, Elevated hepatic transaminase, Micrognathia, Split hand, Pect... OMIM:261515
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint hypermobility, Narrow palate, Elbow dislocation, Phalangeal dislocation, Pericardial effusi... ORPHA:536532
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Tachypnea, Secundum atrial septal d... ORPHA:2257