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 |
|