| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal lung morphology, Abnormality of the vertebral column, Congenital malformation of the gre... |
ORPHA:294975 |
| Robinow Syndrome |
|
Scoliosis, Dental crowding, Short distal phalanx of finger, Oral cleft, Hemivertebrae, Triangular... |
ORPHA:97360 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Misalignment of the pulmonary veins, Posterior rib fusion, Hydroureter, Pulmonary... |
OMIM:265380 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Long philtrum, Dislocated radial head, Atrial septal defect, Truncus arteriosus, Short nose, Abno... |
ORPHA:401935 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Renal agenesis, Short neck, Ventricular septal defect, Underdeveloped nasal a... |
ORPHA:2516 |
| Cardioacrofacial Dysplasia 2 |
|
Genu valgum, Short philtrum, Postaxial hand polydactyly, Narrow chest, Atrioventricular canal def... |
OMIM:619143 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Hemivertebrae, Intrauterine growth retardation, ... |
OMIM:220210 |
| Emanuel Syndrome |
|
Scoliosis, Congenital hip dislocation, Dental crowding, Patent ductus arteriosus, Broad jaw, High... |
OMIM:609029 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Decreased fibular diameter, Cardiomegaly, Multiple rib fractures... |
OMIM:616897 |
| Ellis-Van Creveld Syndrome |
|
Narrow chest, Natal tooth, Horizontal ribs, Cone-shaped epiphyses of phalanges 2 to 5, Epispadias... |
OMIM:225500 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Micrognathia, Double outlet right ventricle, Renal cyst, Cleft upper l... |
OMIM:231060 |
| Emanuel Syndrome |
|
Scoliosis, Congenital hip dislocation, Dental crowding, Submucous cleft lip, Patent ductus arteri... |
ORPHA:96170 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Horizontal ribs, Narrow gr... |
OMIM:617925 |
| Meier-Gorlin Syndrome 7 |
|
Scoliosis, Narrow mouth, Choanal atresia, Bowing of the legs, Vesicoureteral reflux, High palate,... |
OMIM:617063 |
| Trisomy 13 |
|
Scoliosis, Hydrops fetalis, Narrow chest, Patent ductus arteriosus, Bilateral single transverse p... |
ORPHA:3378 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Carious teeth, Camptodactyly, Patent ductus arteriosus, Recurrent urinary tract infections, Thin ... |
ORPHA:363444 |
| Recombinant Chromosome 8 Syndrome |
|
Scoliosis, Downturned corners of mouth, Camptodactyly, Patent ductus arteriosus, Postnatal growth... |
OMIM:179613 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Atrial septal defect, Abnormal vertebral morphology, Ventricular septal ... |
ORPHA:210122 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping fingers, Atrial septal defect, Ventricular septal defect, Preaxial polydactyly, Paten... |
OMIM:618142 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Aortic regurgitation, Pulmona... |
ORPHA:2326 |
| Catel-Manzke Syndrome |
|
Scoliosis, Camptodactyly of finger, Atrial septal defect, Abnormality of epiphysis morphology, Ve... |
ORPHA:1388 |
| Cardioacrofacial Dysplasia 1 |
|
Genu valgum, Short philtrum, Atrioventricular canal defect, Complete atrioventricular canal defec... |
OMIM:619142 |
| Pseudotrisomy 13 Syndrome |
|
Median cleft lip and palate, Tricuspid atresia, Postaxial hand polydactyly, Atrial septal defect,... |
OMIM:264480 |
| Pallister-Hall-Like Syndrome |
|
Postaxial hand polydactyly, Short nose, Abnormal heart morphology, Short ribs, Renal dysplasia, M... |
OMIM:241800 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Postaxial polysyndactyly of foot, Hydrops fetalis, Narrow chest, Hamartoma of tongue, Intestinal ... |
OMIM:263520 |
| Chime Syndrome |
|
Short palm, Aplastic clavicle, Abnormality of the kidney, Abnormality of dental morphology, Cleft... |
ORPHA:3474 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, C... |
ORPHA:3384 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overlapping fingers, Long philtrum, Talipes equinovarus, Hydrops fetalis, Narrow palate, Short ne... |
OMIM:617022 |
| 19P13.12 Microdeletion Syndrome |
|
Scoliosis, Thin vermilion border, Sandal gap, Toe clinodactyly, Aplasia/Hypoplasia of the cerebel... |
ORPHA:254346 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Hypoplasia of the ulna, Mesomeli... |
OMIM:228940 |
| Trisomy 1Q |
|
Polyhydramnios, Hydrops fetalis, Narrow mouth, Patent ductus arteriosus, Increased nuchal translu... |
ORPHA:261344 |
| Mulibrey Nanism |
|
Enamel hypoplasia, Hydrops fetalis, Dental crowding, Hypoplastic frontal sinuses, Cardiomegaly, T... |
OMIM:253250 |
| Mosaic Trisomy 9 |
|
Scoliosis, Polyhydramnios, Hydrops fetalis, Bulbous nose, Elbow dislocation, Intestinal malrotati... |
ORPHA:99776 |
| Mosaic Trisomy 1 |
|
Polyhydramnios, Oral cleft, Increased nuchal translucency, Long toe, Complete duplication of thum... |
ORPHA:1692 |
| Femoral-Facial Syndrome |
|
Scoliosis, Short fifth metatarsal, Abnormal renal collecting system morphology, Underdeveloped na... |
OMIM:134780 |
| Orofaciodigital Syndrome Xviii |
|
Genu valgum, Short philtrum, Short middle phalanx of finger, Diastema, Preaxial polydactyly, Post... |
OMIM:617927 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Narrow mouth, Underdeveloped nasal alae, Recurrent urinary tract infections, Choanal atresia, San... |
ORPHA:261330 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Overlapping fingers, Scoliosis, Atrial septal defect, Patent foramen ovale, Overlapping toe, Vent... |
OMIM:618316 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Unilateral renal agenes... |
OMIM:601355 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Mandibular prognathia, Pelvic kidney, Mic... |
ORPHA:508498 |
| 3C Syndrome |
|
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Intestinal malrotation, Postnatal growth retarda... |
ORPHA:7 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Convex nasal ridge, Camptodactyly, Bilateral single transverse palmar creases... |
OMIM:618804 |
| Fibrochondrogenesis 1 |
|
Hydrops fetalis, Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, P... |
OMIM:228520 |
| Turnpenny-Fry Syndrome |
|
Polyhydramnios, Narrow mouth, Narrow chest, Dental crowding, Mandibular prognathia, Patent ductus... |
OMIM:618371 |
| Otopalatodigital Syndrome Type 2 |
|
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Narrow chest, Flared iliac wing, Elbow d... |
ORPHA:90652 |
| Atelosteogenesis, Type Ii |
|
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Sandal gap, Flat acetabular roof, Short... |
OMIM:256050 |
| Hadziselimovic Syndrome |
|
Prominent nasal bridge, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect,... |
OMIM:612946 |
| Acrocardiofacial Syndrome |
|
Split hand, Abnormality of the metacarpal bones, Hallux valgus, Truncus arteriosus, Anal atresia,... |
ORPHA:2008 |
| Van Esch-O'Driscoll Syndrome |
|
Pulmonary valve atresia, Scoliosis, Atrial septal defect, Ventricular septal defect, Growth delay... |
OMIM:301030 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Scoliosis, Long philtrum, Aplasia of the 1st metacarpal, Short nose, Dental crowding, Micrognathi... |
ORPHA:476126 |
| Down Syndrome |
|
Atlantoaxial instability, Thickened nuchal skin fold, Macroglossia, Broad palm, Complete atrioven... |
OMIM:190685 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... |
ORPHA:2631 |
| Achondrogenesis Type 1B |
|
Polyhydramnios, Long philtrum, Thickened nuchal skin fold, Disproportionate short stature, Short ... |
ORPHA:93298 |
| Catel-Manzke Syndrome |
|
Camptodactyly, Ulnar deviation of the 2nd finger, Hyperphalangy of the 2nd finger, Postnatal grow... |
OMIM:616145 |
| Fryns Syndrome |
|
Polyhydramnios, Narrow chest, Intestinal malrotation, Short distal phalanx of finger, Vesicourete... |
ORPHA:2059 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Multiple renal cysts, Ventricular septal defect, Micrognathia, Abnormal aortic morphology, Tooth ... |
ORPHA:1166 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus, Underdeveloped nasal alae, Smooth philtrum, Thin upper lip vermilion, Short s... |
OMIM:611867 |
| Partial Atrioventricular Septal Defect |
|
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... |
ORPHA:1330 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hydrops fetalis, Narrow chest, Polydactyly, Postaxial polydactyly, Short distal phalanx of finger... |
OMIM:614091 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Mandibular prognathia, Malar fla... |
ORPHA:1919 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Abnormal lung lobation, Atrial septal defect, Narrow mouth, Aortic regurgitation, Ventricular sep... |
OMIM:614114 |
| Greenberg Dysplasia |
|
Polyhydramnios, Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Narrow che... |
OMIM:215140 |
| Kagami-Ogata Syndrome |
|
Polyhydramnios, Patent ductus arteriosus, Premature birth, Pulmonary arterial hypertension, Micro... |
OMIM:608149 |
| Arterial Tortuosity Syndrome |
|
Long philtrum, Hiatus hernia, Ventricular hypertrophy, Ischemic stroke, Aortic tortuosity, Aortic... |
OMIM:208050 |
| Periventricular Nodular Heterotopia |
|
Scoliosis, Aortic regurgitation, Abnormal heart valve morphology, Gastroesophageal reflux, Patent... |
ORPHA:98892 |
| Odontochondrodysplasia 1 |
|
Scoliosis, Nephronophthisis, Short phalanx of finger, Narrow chest, Flared iliac wing, Flat aceta... |
OMIM:184260 |
| Achondrogenesis Type 1A |
|
Polyhydramnios, Long philtrum, Thickened nuchal skin fold, Hydrops fetalis, Short neck, Short nos... |
ORPHA:93299 |
| Multiple Pterygium Syndrome, X-Linked |
|
Polyhydramnios, Fetal akinesia sequence, Short finger, Vertebral fusion, Abnormal cervical curvat... |
OMIM:312150 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Bulbous nose, Dental crowding, Pulmonary insufficiency, Tricuspid regurgitation, Sandal gap, Aort... |
ORPHA:230851 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Polyhydramnios, Aplasia/Hypoplasia of the cerebellum, Increased nuchal translucency, Micrognathia... |
ORPHA:1052 |
| Mucolipidosis Ii Alpha/Beta |
|
Flared iliac wing, Split hand, Carpal bone hypoplasia, Ovoid vertebral bodies, Beaking of vertebr... |
OMIM:252500 |
| Thanatophoric Dysplasia |
|
Abnormal ilium morphology, Hip dysplasia, Platyspondyly, Atrial septal defect, Polyhydramnios, Sh... |
ORPHA:2655 |
| Marden-Walker Syndrome |
|
Scoliosis, Narrow mouth, Abnormal sternum morphology, Camptodactyly, Postnatal growth retardation... |
OMIM:248700 |
| Mosaic Trisomy 16 |
|
Short forearm, Patent ductus arteriosus, Abnormal thorax morphology, Premature birth, Short thumb... |
ORPHA:1708 |
| Zttk Syndrome |
|
Scoliosis, Thin vermilion border, Narrow mouth, Downturned corners of mouth, Patent ductus arteri... |
OMIM:617140 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Foot oligodactyly, Tricuspid reg... |
OMIM:616589 |
| Distal Monosomy 19P13.3 |
|
Pulmonary valve atresia, Short philtrum, Ventricular septal defect, Umbilical hernia, Long toe, T... |
ORPHA:96129 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Micrognathia, Growth de... |
OMIM:612561 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Scoliosis, Ventricular hypertrophy, Short phalanx of finger, Shield chest, Elbow dislocation, Tri... |
OMIM:143095 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Scoliosis, Prenatal maternal abnormality, Abnormal sternum morphology, Abnormal left ventricular ... |
ORPHA:91387 |
| Burn-Mckeown Syndrome |
|
Thin vermilion border, Short philtrum, Atrial septal defect, Narrow mouth, Underdeveloped nasal a... |
OMIM:608572 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Short thorax, Bilateral renal... |
OMIM:618845 |
| Scimitar Syndrome |
|
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... |
ORPHA:185 |
| Seckel Syndrome 9 |
|
Polyhydramnios, Convex nasal ridge, Atrial septal defect, Ventricular septal defect, Recurrent ur... |
OMIM:616777 |
| Orofaciodigital Syndrome Xvii |
|
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Renal hypoplasia, Short middle pha... |
OMIM:617926 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormality of the ribs, Atrial septal defect, Disproportionate short stature, Narrow chest, Abno... |
ORPHA:1354 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Broad nasal tip, Aortic regurgitation, Renovascular hypertension, Mandibular prognathia, Small ha... |
ORPHA:401923 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Scoliosis, Broad thumb, Short phalanx of finger, Downturned corners of mouth, Hypoplastic right h... |
OMIM:616894 |
| Hurler Syndrome |
|
Flared iliac wing, Short clavicles, Short neck, Cardiomyopathy, Depressed nasal bridge, Recurrent... |
OMIM:607014 |
| Conotruncal Heart Malformations |
|
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... |
OMIM:217095 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Bulbous nose, Choanal stenosis, Short neck, Renal cyst, Clinodactyly of the 5th finger, Anteverte... |
OMIM:236500 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Platyspondyly, Thoracic hypoplasia, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Thin... |
OMIM:617866 |
| 2P15P16.1 Microdeletion Syndrome |
|
Scoliosis, Polyhydramnios, Narrow mouth, Enlarged thorax, Bilateral single transverse palmar crea... |
ORPHA:261349 |
| Scheie Syndrome |
|
Genu valgum, Aortic regurgitation, Mandibular prognathia, Spondylolisthesis, Aortic valve stenosi... |
OMIM:607016 |
| Tarp Syndrome |
|
Scoliosis, Tongue nodules, Postaxial polydactyly, Alveolar ridge overgrowth, Micrognathia, Hypopl... |
ORPHA:2886 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Scoliosis, Genu valgum, Broad nasal tip, Elbow dislocation, Rhizomelia, Cleft palate, Flattened e... |
ORPHA:166016 |
| Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Syndacty... |
ORPHA:79094 |
| Infantile Sialic Acid Storage Disease |
|
Hydrops fetalis, Metaphyseal irregularity, Abnormal thorax morphology, Congestive heart failure, ... |
OMIM:269920 |
| Monosomy 13Q34 |
|
Postaxial hand polydactyly, Broad nasal tip, Hematochezia, Growth delay, Epistaxis, Pulmonic sten... |
ORPHA:96168 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Cor pulmonale, Glossoptosis, Cleft palate, Micrognathia |
OMIM:261800 |
| Feingold Syndrome Type 1 |
|
Gastrointestinal atresia, Patent ductus arteriosus, Vesicoureteral reflux, Short thumb, Multiple ... |
ORPHA:391641 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Scoliosis, Hamartoma of tongue, Intestinal malrotation, Postaxial polydactyly, Horizontal ribs, S... |
OMIM:613091 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Clubbing of fingers, Hydrops fetalis, Narrow mouth, Narrow chest, Hypoplastic ischia, Bowing of t... |
ORPHA:1865 |
| Microphthalmia, Syndromic 9 |
|
Single ventricle, Patent ductus arteriosus, Pelvic kidney, Micrognathia, Agenesis of pulmonary ve... |
OMIM:601186 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polyhydramnios, Convex nasal ridge, Thickened nuchal skin fold, Short neck, Underdeveloped nasal ... |
OMIM:263210 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... |
OMIM:113100 |
| Mucolipidosis Iii Gamma |
|
Scoliosis, Genu valgum, Hyperlordosis, Short neck, Aortic regurgitation, Flared iliac wing, Pectu... |
OMIM:252605 |
| Coffin-Lowry Syndrome |
|
Scoliosis, Narrow palate, Open mouth, Mandibular prognathia, High palate, Abnormality of the nasa... |
OMIM:303600 |
| Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Narrow chest, Natal tooth, Hamartoma of tongue, Intestinal malrotation, Patent du... |
OMIM:269860 |
| Tonne-Kalscheuer Syndrome |
|
Broad thumb, Narrow mouth, Downturned corners of mouth, Abnormal heart morphology, Micropenis, Dy... |
OMIM:300978 |
| Diaphanospondylodysostosis |
|
Increased nuchal translucency, Unossified sacrum, Short neck, Micrognathia, Vertebral segmentatio... |
OMIM:608022 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventric... |
ORPHA:1909 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Broad thumb, Ventricular septal defect, Coarctation of aorta, 2-3 toe synda... |
OMIM:600987 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis, Narrow chest, Short distal phalanx of finger, Abnormality of the... |
ORPHA:85166 |
| Marfanoid Habitus With Situs Inversus |
|
Scoliosis, Situs inversus totalis, Aortic regurgitation, Pectus carinatum, Mandibular prognathia,... |
OMIM:609008 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Polyhydramnios, Abnormal left ventricular function, Duplicated collecting system, Double outlet r... |
OMIM:301056 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Natal tooth, Patent ductus arteriosus, Postaxial polydactyly, Horizontal ribs, Flat... |
OMIM:616300 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal form of the vertebral bodies, Micrognathia, Abnormality of the dentition, Abnormality of... |
ORPHA:3104 |
| Intellectual Disability, Wolff Type |
|
Scoliosis, Camptodactyly of finger, Broad thumb, Bulbous nose, Microretrognathia, Large hands, No... |
ORPHA:3080 |
| Keutel Syndrome |
|
Epiphyseal stippling, Peripheral pulmonary artery stenosis, Short distal phalanx of finger, Short... |
OMIM:245150 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Gastrointestina... |
ORPHA:1505 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Coarctation of aorta, Intestinal mal... |
ORPHA:3426 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Oligohydramnios, Enlarged kidney, Cystic renal dyspla... |
OMIM:615415 |
| Mmep Syndrome |
|
Ventricular septal defect, Mandibular prognathia, Oral cleft, Split foot, Triphalangeal thumb, Me... |
ORPHA:3434 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Polyhydramnios, Fetal akinesia sequence, Short finger, Vertebral fusion, Abnormal cervical curvat... |
OMIM:253290 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... |
OMIM:616749 |
| Mucopolysaccharidosis, Type Vii |
|
Scoliosis, Hydrops fetalis, Postnatal growth retardation, Anterior beaking of lumbar vertebrae, M... |
OMIM:253220 |
| Holzgreve Syndrome |
|
Hand polydactyly, Renal hypoplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate, Renal ... |
OMIM:236110 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Broad thumb, Truncus arteriosus, Bulbous nose, Patent ductus arteriosus, Bicuspid aortic valve, C... |
OMIM:612474 |
| Autosomal Recessive Amelia |
|
Polyhydramnios, Acromelia of the lower limbs, Amelia involving the upper limbs, Non-midline cleft... |
ORPHA:1027 |
| Acro-Renal-Mandibular Syndrome |
|
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, Renal hypopla... |
ORPHA:958 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Sprengel anomaly, Unilateral renal agenesis, Esophageal atresia, Choanal atresi... |
OMIM:619227 |
| Renal Tubular Dysgenesis |
|
Polyhydramnios, Multiple renal cysts, Oligohydramnios, Proximal tubulopathy, Renotubular dysgenes... |
ORPHA:3033 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Micrognathia, Short di... |
OMIM:311895 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Anisospondyly, Narrow mouth, Thoracic hypoplasia, Bowing of the long bones, Wide nasal bridge, Sh... |
OMIM:224410 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... |
OMIM:614980 |
| Pallister-Hall Syndrome |
|
Y-shaped metacarpals, Hydroureter, Natal tooth, Patent ductus arteriosus, Choanal atresia, Hemive... |
OMIM:146510 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... |
OMIM:208530 |
| Orofaciodigital Syndrome Vi |
|
Preaxial hand polydactyly, Toe syndactyly, Renal agenesis, Central Y-shaped metacarpal, Tongue no... |
OMIM:277170 |
| 8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Narrow chest, Branchial cyst, Patent ductus arteriosus, Bilateral ren... |
ORPHA:508488 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Open mouth, Narrow chest, Camptodactyly, Patent ductus arteriosus, Choanal atresia, Short thumb, ... |
OMIM:619148 |
| Osteogenesis Imperfecta |
|
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Abnormality of long bone morphology,... |
ORPHA:666 |
| Prune Belly Syndrome |
|
Scoliosis, Congenital hip dislocation, Hydroureter, Intestinal malrotation, Patent ductus arterio... |
ORPHA:2970 |
| Marfanoid Hypermobility Syndrome |
|
Scoliosis, Aortic regurgitation, Pectus carinatum, Pectus excavatum, High, narrow palate, High pa... |
OMIM:154750 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 finger syndactyly, Postaxial hand polydactyly, Complete atrioventricular canal defect, Hamart... |
OMIM:217085 |
| Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Broad long bone diaphyses, Flared iliac wing, Beaking of vertebral bodies T12-L3... |
ORPHA:79255 |
| Distal Tetrasomy 15Q |
|
Scoliosis, Abnormal sternum morphology, Camptodactyly, Patent ductus arteriosus, High palate, Mic... |
ORPHA:314588 |
| Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Micrognathia, Median cleft lip, Preaxial hand polydactyly, Postaxial hand polydac... |
OMIM:236680 |
| Mcdonough Syndrome |
|
Short philtrum, Atrial septal defect, Ventricular septal defect, Pectus carinatum, Mandibular pro... |
OMIM:248950 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Absent hand, Crossed fused renal ectopia, Elbow dislocation, Intestinal malrotation, Abnormality ... |
ORPHA:2538 |
| Frontonasal Dysplasia 1 |
|
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Camptodactyly, Hypoplastic fronta... |
OMIM:136760 |
| Verheij Syndrome |
|
Scoliosis, Long philtrum, Short nose, Renal hypoplasia, Growth delay, Hemivertebrae, Thin upper l... |
OMIM:615583 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Clubbing of fingers, Atrial septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Wide nas... |
ORPHA:3304 |
| Gm1 Gangliosidosis |
|
Scoliosis, Hydrops fetalis, Narrow mouth, Mandibular prognathia, Patent ductus arteriosus, Premat... |
ORPHA:354 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the cerebellum, Situs inversus totalis, Finger syndactyly, Ventricular sept... |
ORPHA:1908 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Atrial septal defect, Hydrops fetalis, Narrow chest, Preaxial polydactyly, Cerebe... |
OMIM:616546 |
| Acrofacial Dysostosis 1, Nager Type |
|
Scoliosis, Patent ductus arteriosus, Absent radius, Premature birth, Triphalangeal thumb, Microgn... |
OMIM:154400 |
| Chromosome 18Q Deletion Syndrome |
|
Scoliosis, Downturned corners of mouth, Choanal stenosis, Mandibular prognathia, Patent ductus ar... |
OMIM:601808 |
| Holt-Oram Syndrome |
|
Scoliosis, Broad thumb, Split hand, Patent ductus arteriosus, Abnormality of the metacarpal bones... |
ORPHA:392 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Long philtrum, Hypoplasia of the radius, Lateral clavicle hook, Narrow chest, Ventricular septal ... |
OMIM:617895 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Triphalangeal thumb, Preaxial hand polydactyly, Maternal diabetes, Wide mouth, Non-midline cleft ... |
ORPHA:2549 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Small thenar eminence, Narrow mouth, Abnormality of the vertebral column, Abnormal heart morpholo... |
OMIM:239800 |
| Thymic Aplasia With Fetal Death |
|
Truncus arteriosus, Stillbirth, Pulmonary hypoplasia, Renal agenesis, Ureteral agenesis |
OMIM:274210 |
| Gonadal Dysgenesis, Xy Type, With Associated Anomalies |
|
Broad palm, Abnormal heart morphology, Short columella, Oral cleft, Acromelia, Cleft upper lip, S... |
OMIM:233430 |
| Achondrogenesis |
|
Polyhydramnios, Long philtrum, Thickened nuchal skin fold, Hydrops fetalis, Short neck, Short nos... |
ORPHA:932 |
| Atelosteogenesis Type I |
|
Scoliosis, Polyhydramnios, Narrow chest, Neonatal short-trunk short stature, Abnormality of fibul... |
ORPHA:1190 |
| Boomerang Dysplasia |
|
Polyhydramnios, Abnormality of tibia morphology, Abnormality of femur morphology, Severe short-li... |
ORPHA:1263 |
| 14Q11.2 Microdeletion Syndrome |
|
Long philtrum, Toe syndactyly, Narrow mouth, Short nose, Ventricular septal defect, High palate, ... |
ORPHA:261120 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Scoliosis, Polydactyly, Patent ductus arteriosus, Pelvic kidney, Micropenis, Hallux valgus, Pectu... |
ORPHA:464306 |
| Tarp Syndrome |
|
Tongue nodules, Postaxial polydactyly, High palate, Micrognathia, Deep palmar crease, Hypoplasia ... |
OMIM:311900 |
| Duane-Radial Ray Syndrome |
|
Scoliosis, Crossed fused renal ectopia, Choanal stenosis, Choanal atresia, Sandal gap, Absent rad... |
OMIM:607323 |
| Distal Monosomy 15Q |
|
Low 1-minute APGAR score, Patent ductus arteriosus, Postnatal growth retardation, Short distal ph... |
ORPHA:1596 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the tongue, Preaxial hand polydactyly, Short neck, Abnormality of epiphysis morpho... |
ORPHA:3098 |
| Femoral-Facial Syndrome |
|
Scoliosis, Oral cleft, Aplasia/Hypoplasia of the tibia, Abnormality of pelvic girdle bone morphol... |
ORPHA:1988 |
| 8P23.1 Microdeletion Syndrome |
|
Thin vermilion border, Broad thumb, Enlarged thorax, Broad hallux phalanx, Patent ductus arterios... |
ORPHA:251071 |
| Phaver Syndrome |
|
Camptodactyly of finger, Abnormality of the ribs, Broad thumb, Radioulnar synostosis, Myelomening... |
ORPHA:2876 |
| Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Dextrocardia, Spina bifida occulta, High palate, Micrognathia, Ectrodactyl... |
ORPHA:2437 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Macroglossia, Short nose, Downturned corners of mouth, Aortic regurgitation, Everted lower lip ve... |
ORPHA:96147 |
| Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Complete duplication of ... |
OMIM:129540 |
| Yunis-Varon Syndrome |
|
Polyhydramnios, Thin vermilion border, Hydrops fetalis, Tapered toe, Aplasia/Hypoplasia of the di... |
OMIM:216340 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormality of the ribs, Anomalous pulmonary venous return, Preaxial hand polydactyly, Abnormal t... |
ORPHA:1120 |
| Recombinant 8 Syndrome |
|
Scoliosis, Downturned corners of mouth, Abnormal sternum morphology, Patent ductus arteriosus, Bi... |
ORPHA:96167 |
| Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Hydrops fetalis, Narrow chest, Natal tooth, Premature birth, Aplastic clavicle, M... |
ORPHA:50945 |
| Smith-Lemli-Opitz Syndrome |
|
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Abnormal dental enamel morphology, Polyhydramnio... |
ORPHA:818 |
| Mullegama-Klein-Martinez Syndrome |
|
Scoliosis, Long philtrum, Short philtrum, Bulbous nose, Polydactyly, Micrognathia, Coarctation of... |
OMIM:301022 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Sacr... |
OMIM:617516 |
| Vacterl/Vater Association |
|
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Abnormality of the urethra, Premature birth, Abn... |
ORPHA:887 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Epiphyseal stippling, Tracheal calcification, Proportionate short stature, Short distal phalanx o... |
ORPHA:79345 |
| Maternal Phenylketonuria |
|
Long philtrum, Abnormal renal morphology, Deviated nasal septum, Anteverted nares, Abnormal heart... |
ORPHA:2209 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Dental crowding, Sandal gap, Spina bifida occulta, High palate, Long philtrum, Pectus excavatum, ... |
OMIM:617877 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Scoliosis, Polyhydramnios, Patent ductus arteriosus, Birth length less than 3rd percentile, Pelvi... |
ORPHA:464311 |
| Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Squared iliac bones, Hydrops fetalis, Advanced tarsal ossification, Stillbirth, S... |
OMIM:215045 |
| Osteopathia Striata With Cranial Sclerosis |
|
Scoliosis, Polyhydramnios, Dental crowding, Camptodactyly, Natal tooth, Intestinal malrotation, P... |
OMIM:300373 |
| Johnson Neuroectodermal Syndrome |
|
Carious teeth, Choanal stenosis, Ventricular septal defect, Growth delay, Anosmia, Patent ductus ... |
OMIM:147770 |
| Kapur-Toriello Syndrome |
|
Overlapping fingers, Camptodactyly of finger, Scoliosis, Atrial septal defect, Bulbous nose, Vent... |
OMIM:244300 |
| Atelosteogenesis Type Ii |
|
Polyhydramnios, Short phalanx of finger, Narrow chest, Elbow dislocation, Hitchhiker thumb, Campt... |
ORPHA:56304 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular se... |
OMIM:306955 |
| Disorganization, Mouse, Homolog Of |
|
Sacral meningocele, Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip disloc... |
OMIM:223200 |
| Yunis-Varon Syndrome |
|
Polyhydramnios, Thin vermilion border, Hydrops fetalis, Slender long bones with narrow diaphyses,... |
ORPHA:3472 |
| Gm1-Gangliosidosis, Type I |
|
Scoliosis, Thickened ribs, Hydrops fetalis, Abnormal heart valve morphology, Beaking of vertebral... |
OMIM:230500 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Scoliosis, Epiphyseal stippling, Congenital hip dislocation, Single ventricle, Short clavicles, R... |
OMIM:308050 |
| Faciocardiomelic Syndrome |
|
Long philtrum, Hyperplasia of the maxilla, Narrow chest, Hypoplastic pelvis, Polydactyly, Wide mo... |
OMIM:612731 |
| Temtamy Syndrome |
|
Long philtrum, Convex nasal ridge, Hypoplasia of teeth, Aortic regurgitation, Dental crowding, Sh... |
OMIM:218340 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scoliosis, Patent ductus arteriosus, Tricuspid regurgitation, Increased nuchal translucency, Flat... |
OMIM:618870 |
| Stuve-Wiedemann Syndrome |
|
Pursed lips, Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Pulmonary art... |
OMIM:601559 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Scoliosis, Polyhydramnios, Absent glenoid fossa, Epiphyseal stippling, Narrow mouth, Narrow chest... |
ORPHA:96334 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Hypoplasia of the radius, Toe syndactyly, Horseshoe kidney, Aortic regurgitation, Mitral atresia,... |
ORPHA:140952 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Prominent nasal bridge, Long philtrum, Thin vermilion border, Abnormal renal morphology, Downturn... |
OMIM:613792 |
| Cerebrocostomandibular Syndrome |
|
Scoliosis, Polyhydramnios, Anomalous tracheal cartilage, Congenital hip dislocation, Patent ductu... |
OMIM:117650 |
| Galloway-Mowat Syndrome 7 |
|
Partial duplication of thumb phalanx, IgA deposition in the glomerulus, High palate, Diffuse mesa... |
OMIM:618348 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Thin vermilion border, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Intrauterine... |
OMIM:608540 |
| Orofaciodigital Syndrome Type 5 |
|
Enamel hypoplasia, Scoliosis, Postaxial polysyndactyly of foot, Crossed fused renal ectopia, Abno... |
ORPHA:2919 |
| 22Q11.2 Deletion Syndrome |
|
Scoliosis, Polyhydramnios, Carious teeth, Abnormal dental enamel morphology, Narrow mouth, Bulbou... |
ORPHA:567 |
| Aarskog-Scott Syndrome |
|
Oral cleft, Short neck, Hypoplasia of the maxilla, Long philtrum, Pectus excavatum, Abnormal vert... |
ORPHA:915 |
| Monosomy 18Q |
|
Left aortic arch with right descending aorta and right ductus arteriosus, Bulbous nose, Downturne... |
ORPHA:1600 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Polyhydramnios, Lateral clavicle hook, Narrow chest, Ventricular septal defect, Preaxial polydact... |
OMIM:615503 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Sandal gap, Pulmonary artery stenosis, Patent foramen ovale, Periorbital edema, Micrognathia, Bro... |
OMIM:613177 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Abnormal ilium morphology, Polyhydramnios, Thin vermilion border, Open mouth, Patent ductus arter... |
OMIM:614080 |
| Bohring-Opitz Syndrome |
|
Polyhydramnios, Narrow palate, Camptodactyly, Intestinal malrotation, Vesicoureteral reflux, Micr... |
OMIM:605039 |
| Pentalogy Of Cantrell |
|
Scoliosis, Abnormality of tibia morphology, Atrial septal defect, Renal agenesis, Ventricular sep... |
ORPHA:1335 |
| Hunter-Macdonald Syndrome |
|
Scoliosis, Camptodactyly, Patent ductus arteriosus, Pseudoepiphyses, Metatarsus adductus, Mitral ... |
OMIM:611962 |
| Fryns Syndrome |
|
Polyhydramnios, Camptodactyly, Intestinal malrotation, Short distal phalanx of finger, Short thum... |
OMIM:229850 |
| Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Hydrops fetalis, Narrow chest, Polydactyly, Patent ductus arteriosus, Horizontal ... |
OMIM:613610 |
| X-Linked Intellectual Disability, Siderius Type |
|
Scoliosis, Preaxial hand polydactyly, Large hands, Oral cleft, Cleft upper lip, Broad nasal tip |
ORPHA:85287 |
| Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Broad long bones, Hypoplastic iliac wing, Absent ver... |
OMIM:200610 |
| Pagod Syndrome |
|
Abnormal clavicle morphology, Spina bifida, Arrhythmia, Situs inversus totalis, Abnormal aortic m... |
ORPHA:991 |
| Serkal Syndrome |
|
Malrotation of small bowel, Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect,... |
ORPHA:139466 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Scoliosis, Morphological abnormality of the gastrointestinal tract, Abnormal sternum morphology, ... |
ORPHA:2990 |
| Oculofaciocardiodental Syndrome |
|
Scoliosis, Oligodontia, Intestinal malrotation, Flexion contracture of the 2nd toe, Patent ductus... |
ORPHA:2712 |
| Orofaciodigital Syndrome Type 6 |
|
Central Y-shaped metacarpal, Tongue nodules, Hamartoma of tongue, Lobulated tongue, High palate, ... |
ORPHA:2754 |
| 8P23.1 Duplication Syndrome |
|
Long philtrum, Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenos... |
ORPHA:251076 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Scoliosis, Aortic regurgitation, Kyphosis, Umbilical hernia, Shoulder dislocation, High, narrow p... |
ORPHA:2181 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Talipes equinovarus, Scapular winging, Dental crowding, Micrognathia, Fetal akinesia sequence, Ca... |
OMIM:617468 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Natal tooth, Intestinal malrotation, Patent ductus arteriosus, Lobulat... |
OMIM:249000 |
| Endocrine-Cerebroosteodysplasia |
|
Shield chest, Narrow chest, Polydactyly, Natal tooth, Postaxial polydactyly, Sandal gap, Ulnar de... |
OMIM:612651 |
| Filippi Syndrome |
|
Short philtrum, Thin vermilion border, Abnormality of dental morphology, Finger clinodactyly, Ven... |
OMIM:272440 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Congenital hip dislocation, Pneumonia, High palate, Short neck, Micropenis, Wide nose, Recurrent ... |
OMIM:300209 |
| Autosomal Recessive Robinow Syndrome |
|
Open bite, Scoliosis, Broad thumb, Downturned corners of mouth, Elbow dislocation, Split hand, Br... |
ORPHA:1507 |
| Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Hematuria, Hydrops fetalis, Gastrointestinal hemorrhage, Internal hemorrhag... |
ORPHA:90308 |
| 3P25.3 Microdeletion Syndrome |
|
Scoliosis, Broad thumb, Downturned corners of mouth, Mandibular prognathia, Pyloric stenosis, Pat... |
ORPHA:435638 |
| Trichohepatoenteric Syndrome 1 |
|
Polyhydramnios, Long philtrum, Narrow mouth, Aortic regurgitation, Ventricular septal defect, Vil... |
OMIM:222470 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Platyspondyly, Short philtrum, Abnormality of the ribs, Short neck,... |
ORPHA:93267 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia... |
OMIM:618164 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Maternal diabetes, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Premature birth... |
ORPHA:1208 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Scoliosis, Underdeveloped nasal alae, Chordee, Polydactyly, Recurrent urinary tract infections, S... |
ORPHA:268261 |
| Koolen-De Vries Syndrome |
|
Scoliosis, Pear-shaped nose, Narrow palate, Bulbous nose, Open mouth, Patent ductus arteriosus, R... |
OMIM:610443 |
| Carpenter Syndrome 1 |
|
Scoliosis, Flared iliac wing, Hydroureter, Camptodactyly, Patent ductus arteriosus, Metatarsus ad... |
OMIM:201000 |
| Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, Epiphyseal stippling, Dental crowding, Pyloric stenosis, Intestinal malrotation,... |
OMIM:270400 |
| Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Convex nasal ridge, Humeroradial synostosis, Short neck, Narrow mouth, Oligohydramn... |
OMIM:251230 |
| Caudal Regression Sequence |
|
Scoliosis, Talipes equinovarus, Maternal diabetes, Renal agenesis, Arnold-Chiari malformation, Ab... |
ORPHA:3027 |
| Eng-Strom Syndrome |
|
Scoliosis, Camptodactyly of finger, Ventricular septal defect, Pectus excavatum, Short stature, I... |
ORPHA:1937 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Abnormal femoral neck/head morphology, Abnormal hip joint morphology, Abnormality of the elbow, A... |
ORPHA:85438 |
| Nasodigitoacoustic syndrome |
|
Broad distal phalanx of finger, Short 3rd metacarpal, Narrow palate, Short phalanx of finger, Bro... |
OMIM:255980 |
| Diamond-Blackfan Anemia 1 |
|
Narrow chest, Partial duplication of thumb phalanx, Premature birth, Short thumb, High palate, Sh... |
OMIM:105650 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Intrauterine growth retardat... |
ORPHA:2257 |
| Vater/Vacterl Association |
|
Scoliosis, Abnormal sternum morphology, Patent ductus arteriosus, Choanal atresia, Postnatal grow... |
OMIM:192350 |
| Genitopalatocardiac Syndrome |
|
Scoliosis, Postaxial hand polydactyly, Downturned corners of mouth, Kyphosis, Non-midline cleft l... |
ORPHA:2075 |
| Thomas Syndrome |
|
Oligohydramnios, Multicystic kidney dysplasia, Hypoplastic left heart, Cleft upper lip, Cleft pal... |
ORPHA:3316 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Ascending aortic dissection, Aortic regurgitation, Abnormal left ventricular function, Patent duc... |
OMIM:132900 |
| Disproportionate Short Stature With Ptosis And Valvular Heart Lesions |
|
Disproportionate short stature, Abnormal heart valve morphology, Abnormality of the dentition, Ra... |
OMIM:126190 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Carious teeth, Small epiphyses, Short femoral neck, High palate, Advanced ossification... |
OMIM:618363 |
| Campomelia, Cumming Type |
|
Multiple renal cysts, Hydrops fetalis, Oligohydramnios, Lymphedema, Bowing of the long bones, Abn... |
ORPHA:1318 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Hypoplastic right heart, Ventricular septal defect, Split foot, Tetralogy of Fallot, Micrognathia |
OMIM:601348 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Upper limb undergrowth, Thoracic hypoplasia, Pulmonary hypoplasi... |
OMIM:613124 |
| Marfan Syndrome |
|
Scoliosis, Narrow palate, Dental crowding, Camptodactyly, Tricuspid regurgitation, Metatarsus add... |
OMIM:154700 |
| Achondrogenesis Type 2 |
|
Delayed pubic bone ossification, Delayed proximal femoral epiphyseal ossification, Narrow chest, ... |
ORPHA:93296 |
| Esophageal Atresia |
|
Scoliosis, Polyhydramnios, Morphological abnormality of the gastrointestinal tract, Laryngotrache... |
ORPHA:1199 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... |
ORPHA:229 |
| Cardiomyopathy, Dilated, 1S |
|
Ventricular arrhythmia, Coarctation of aorta, Pulmonary artery hypoplasia, Tricuspid regurgitatio... |
OMIM:613426 |
| Genitopatellar Syndrome |
|
Long philtrum, Delayed eruption of teeth, Atrial septal defect, Radioulnar synostosis, Hypoplasti... |
ORPHA:85201 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Everted lower lip vermilion, P... |
OMIM:249670 |
| Ivic Syndrome |
|
Scoliosis, Limited wrist movement, Carpal bone hypoplasia, Intestinal malrotation, Patent ductus ... |
OMIM:147750 |
| Aneurysm-Osteoarthritis Syndrome |
|
Scoliosis, Patent ductus arteriosus, High palate, Abdominal aortic aneurysm, Protrusio acetabuli,... |
ORPHA:284984 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... |
ORPHA:93403 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Radioulnar synostosis, Craniofacial hyperostosis, Bowing of the long bones, Non-midline cleft lip... |
ORPHA:2725 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Scoliosis, Bulbous nose, Laryngotracheomalacia, Patent ductus arteriosus, Vesicoureteral reflux, ... |
OMIM:618454 |
| Baraitser-Winter Syndrome 1 |
|
Long philtrum, Short nose, Anteverted nares, Duplication of phalanx of hallux, Patent ductus arte... |
OMIM:243310 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Convex nasal ridge, Abnormal mitral valve morphology, Abnormal palate morphology, Mesomelia, Toot... |
ORPHA:1277 |
| Trisomy 17P |
|
Scoliosis, Narrow mouth, Patent ductus arteriosus, Oral cleft, High palate, Micrognathia, Short n... |
ORPHA:261290 |
| Achondrogenesis, Type Ib |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Narrow chest, Hypoplastic ilia, Short ribs, Umbilica... |
OMIM:600972 |
| Acrocallosal Syndrome |
|
Thin vermilion border, Hypoplasia of teeth, Open mouth, Postnatal growth retardation, Rectovagina... |
OMIM:200990 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Underdeveloped nasal alae, Deep philtrum, Kyphosis, Intestinal... |
ORPHA:77300 |
| 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 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intestinal malrotation, Patent ductus arteriosus, Microcolon, Pulmonary artery stenosis, Patent f... |
OMIM:600001 |
| Mohr Syndrome |
|
Scoliosis, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue, High palate, M... |
OMIM:252100 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Overlapping toe, Ventricular septal ... |
OMIM:617478 |
| Cornelia De Lange Syndrome 1 |
|
Downturned corners of mouth, Choanal atresia, Pneumonia, Vesicoureteral reflux, Phocomelia, High ... |
OMIM:122470 |
| Synpolydactyly 1 |
|
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... |
OMIM:186000 |
| Axial Mesodermal Dysplasia Spectrum |
|
Scoliosis, Morphological abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the lun... |
ORPHA:1834 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Mucolipidosis Type Ii |
|
Limited wrist movement, Abnormality of long bone morphology, Narrow chest, Pulmonary insufficienc... |
ORPHA:576 |
| Acromelic Frontonasal Dysostosis |
|
Broad nasal tip, Polydactyly, Preaxial polydactyly, Midline defect of the nose, Retrocerebellar c... |
OMIM:603671 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Ventricular septal defect, Tracheomalacia, Oral cleft, Bifid thoracic vertebrae,... |
ORPHA:268249 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Long philtrum, Postaxial hand polydactyly, Atrial septal defect, Ventricular septal defect, Renal... |
ORPHA:75389 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Fusion of gums, Diastema, Abnormality of the maxilla, Irregular dentition, Cleft lower lip, Cleft... |
ORPHA:401942 |
| Velocardiofacial Syndrome |
|
Right aortic arch with mirror image branching, Bulbous nose, Open mouth, Ventricular septal defec... |
OMIM:192430 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Thick vermilion border, Tricuspid regurgitation, Short chordae tendineae of... |
OMIM:314400 |
| Ritscher-Schinzel Syndrome 2 |
|
Scoliosis, Short philtrum, Atrial septal defect, Overlapping toe, Ventricular septal defect, Camp... |
OMIM:300963 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary hypoplasia, Broa... |
OMIM:615524 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Scoliosis, Carious teeth, Phalangeal dislocation, Slender long bones with narrow diaphyses, Ovoid... |
ORPHA:536467 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Scoliosis, Narrow mouth, Dental crowding, Camptodactyly, Mandibular prognathia, Premature birth, ... |
OMIM:300998 |
| Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Camptodactyly, Metatarsus adductus, Double outlet right ventricle, Mitra... |
OMIM:249420 |
| Triploidy |
|
Polyhydramnios, Macroglossia, Short neck, Narrow mouth, Narrow chest, Finger syndactyly, Intestin... |
ORPHA:3376 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect |
OMIM:613751 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Hip dysplasia, Long philtrum, Talipes equinovarus, Atrial septal defect, Narrow naris, Broad nasa... |
OMIM:617402 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Underdeveloped nasal alae, Peripheral pulmonary artery stenosis, Metatarsus adductus, Wrist flexi... |
ORPHA:436003 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Right aortic arch with mirror image branching, Dextrocardia, Pulmo... |
OMIM:606217 |
| Acrorenal-Mandibular Syndrome |
|
Narrow palate, Narrow chest, Split hand, Hemivertebrae, Missing ribs, High palate, Micrognathia, ... |
OMIM:200980 |
| Noonan Syndrome 12 |
|
Polyhydramnios, Ventricular septal defect, Pectus excavatum, 11 pairs of ribs, Tetralogy of Fallo... |
OMIM:618624 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Long philtrum, Overriding aorta, Atrial septal defect, Abnormal renal morphology, Abnormal heart ... |
ORPHA:477817 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Metaphyseal sclerosis, Cerebellar hypoplasia, Small hand, Short stature, Short foot, Intrauterine... |
OMIM:616051 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Scoliosis, Abnormality of the elbow, Abnormality of the metaphysis, High palate, Micrognathia, El... |
ORPHA:93359 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Pectus excavatum, Calcaneovalgus deformity, Mitral valve prolapse, Mitral r... |
OMIM:225320 |
| Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Short distal phalanx of finger, Delayed puberty, Spina bifi... |
ORPHA:52 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Narrow mouth, Dental crowding, Patent ductus arteriosus, Patent foramen ovale, High palate, Short... |
OMIM:612582 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Proportionate short stature, Pectus carinatum, Pectus excavatum, Cervi... |
OMIM:609654 |
| Mend Syndrome |
|
Overlapping fingers, Overlapping toe, Polydactyly, Microretrognathia, Kyphosis, 2-3 toe syndactyl... |
OMIM:300960 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Thin vermilion border, Narrow mouth, Phocomelia, High palate, Short neck, Micrognathia, Depressed... |
OMIM:266910 |
| Larsen Syndrome |
|
Scoliosis, Short metatarsal, Elbow dislocation, Spina bifida occulta, Bronchomalacia, Depressed n... |
OMIM:150250 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Carpal bone hypoplasia, Abnormal sternum morphology, Flattened femoral head, Patent ductus arteri... |
ORPHA:457395 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Scoliosis, Ventricular hypertrophy, Congenital hip dislocation, Dislocation of toes, Camptodactyl... |
OMIM:300280 |
| Roifman Syndrome |
|
Downturned corners of mouth, Underdeveloped nasal alae, Postnatal growth retardation, Premature b... |
OMIM:616651 |
| Feingold Syndrome 2 |
|
3-4 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 2nd finger, 2-3 toe sy... |
OMIM:614326 |
| Orofaciodigital Syndrome Type 10 |
|
Tarsal synostosis, Micrognathia, Short neck, Mesomelic leg shortening, Hypoplasia of proximal rad... |
ORPHA:2756 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... |
ORPHA:1209 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Palpitations, Partial diaphragmatic absence of pericardium, Atrial septal de... |
ORPHA:2847 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epiphyseal stippling, Patent ductus arteriosus, Ulnar deviation of the hand, Metatarsus adductus,... |
OMIM:214100 |
| Distal Monosomy 10P |
|
Convex nasal ridge, Short neck, Micrognathia, Abnormality of the elbow, Non-midline cleft lip, Bi... |
ORPHA:1580 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Wolf-Hirschhorn Syndrome |
|
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Abnormality of the philtrum, Downturned corners ... |
ORPHA:280 |
| Orofaciodigital Syndrome I |
|
Enamel hypoplasia, Carious teeth, Underdeveloped nasal alae, Tongue nodules, Polydactyly, Lobulat... |
OMIM:311200 |
| Mucolipidosis Iii Alpha/Beta |
|
Scoliosis, Irregular carpal bones, Broad ribs, Aortic regurgitation, Split hand, Carpal bone hypo... |
OMIM:252600 |
| 20P12.3 Microdeletion Syndrome |
|
Long philtrum, Atrial septal defect, Broad thumb, Narrow mouth, Wolff-Parkinson-White syndrome, P... |
ORPHA:261295 |
| Primary Ciliary Dyskinesia |
|
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... |
ORPHA:244 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Coarctation of aorta, Right aortic arch, Supraumbilical raphe, Bifid sternum |
OMIM:140850 |
| Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Short umbilical cord, Camptodactyly, Patent ductus arteriosus, Patent foramen ova... |
OMIM:256520 |
| Dysplastic Cortical Hyperostosis |
|
Abnormality of limb bone morphology, Polyhydramnios, Hydrops fetalis, Abnormality of the urinary ... |
ORPHA:2204 |
| Ellis Van Creveld Syndrome |
|
Thin vermilion border, Narrow chest, Hydroureter, Short distal phalanx of finger, Dextrocardia, A... |
ORPHA:289 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Scoliosis, Broad thumb, Two carpal ossification centers present at birth, Flared iliac wing, Subm... |
OMIM:312870 |
| Tetrasomy 9P |
|
Abnormal dental enamel morphology, Pericarditis, Downturned corners of mouth, Dental crowding, Bu... |
ORPHA:3310 |
| Microgastria-Limb Reduction Defects Association |
|
Hypoplasia of the radius, Horseshoe kidney, Cystic renal dysplasia, Secundum atrial septal defect... |
OMIM:156810 |
| Isolated Klippel-Feil Syndrome |
|
Scoliosis, Spina bifida, Abnormality of the vertebral column, Ventricular septal defect, Sprengel... |
ORPHA:2345 |
| Carey-Fineman-Ziter Syndrome |
|
Scoliosis, Broad nasal tip, Anteverted nares, Pierre-Robin sequence, Dysphagia, Growth delay, Gas... |
OMIM:254940 |
| Opitz-Kaveggia Syndrome |
|
Narrow palate, Broad thumb, Dental crowding, Split hand, Camptodactyly, Abnormal sternum morpholo... |
OMIM:305450 |
| Charlie M Syndrome |
|
Short philtrum, Thin vermilion border, Narrow mouth, Finger syndactyly, Micrognathia, Split hand,... |
ORPHA:1406 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Intrauterine growth retardation, Neonatal... |
OMIM:619003 |
| Hennekam Syndrome |
|
Hydrops fetalis, Narrow mouth, Narrow chest, Pericardial effusion, Depressed nasal bridge, Abnorm... |
ORPHA:2136 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Micrognathia, Gas... |
OMIM:600123 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Scoliosis, Long philtrum, Short nose, Downturned corners of mouth, Open mouth, Restrictive cardio... |
OMIM:615398 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Abnormality of the vertebral column, Cerebellar cyst, Sprengel anomaly, Unilateral r... |
OMIM:601076 |
| Oculodentodigital Dysplasia |
|
Neurogenic bladder, Aplasia/Hypoplasia of the cerebellum, Carious teeth, Abnormal dental enamel m... |
ORPHA:2710 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Abnormal aortic morphology, Uret... |
ORPHA:1926 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Patent ductus arteriosus, Aplasia of the... |
OMIM:615948 |
| Hurler-Scheie Syndrome |
|
Scoliosis, Aortic regurgitation, Kyphosis, Thick vermilion border, Umbilical hernia, Short statur... |
OMIM:607015 |
| Lujan-Fryns Syndrome |
|
Scoliosis, Camptodactyly of finger, Short philtrum, Atrial septal defect, Dental crowding, Microg... |
ORPHA:776 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short... |
ORPHA:391646 |
| Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Bulbous nose, Downturned corners of mouth, Open mouth, Patent ductus arteriosus, Short distal pha... |
OMIM:220500 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
| Syndromic Diarrhea |
|
Atrial septal defect, Aortic regurgitation, Abnormal heart morphology, Ventricular septal defect,... |
ORPHA:84064 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... |
OMIM:174500 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Opitz Gbbb Syndrome, Type Ii |
|
Patent ductus arteriosus, Aplasia/Hypoplasia of the cerebellar vermis, Pulmonary arterial hyperte... |
OMIM:145410 |
| Hemifacial Microsomia |
|
Branchial anomaly, Patent ductus arteriosus, Hemivertebrae, Vesicoureteral reflux, Arnold-Chiari ... |
OMIM:164210 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Scoliosis, Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Pericardial effusion, Bilater... |
OMIM:235510 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Scoliosis, Hyperlordosis, Large iliac wing, Abnormal thumb morphology, Abnormality of finger, Man... |
ORPHA:2511 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Short phalanx of finger, Bulbous nose, Ventricular septal defect, Short nos... |
OMIM:613458 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Narrow mouth, Ventricular septal defect, Mitral regurgitation, Abnorm... |
ORPHA:83473 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Polyhydramnios, Short neck, Abnormal form of the vertebral bodies, Abnormality of the elbow, Slen... |
ORPHA:1486 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Kyphosis, Postaxial polydactyly, Mitral regurgit... |
OMIM:603387 |
| Even-Plus Syndrome |
|
Atrial septal defect, Short nose, Coronal cleft vertebrae, Depressed nasal ridge, Renal hypoplasi... |
OMIM:616854 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Scoliosis, Polyhydramnios, Narrow chest, Patent ductus arteriosus, Postnatal growth retardation, ... |
OMIM:213980 |
| Simpson-Golabi-Behmel Syndrome |
|
Scoliosis, Polyhydramnios, Broad thumb, Congenital hip dislocation, Hydroureter, Mandibular progn... |
ORPHA:373 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Oligohydramnios, Postnatal growth retardation, Hypertension, Abnormal renal corticomedullary diff... |
OMIM:616733 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... |
ORPHA:1329 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Scoliosis, Camptodactyly, Postnatal growth retardation, Abnormality of the ribs, Renal insufficie... |
OMIM:611209 |
| Microphthalmia With Limb Anomalies |
|
Postnatal growth retardation, Sandal gap, High palate, Depressed nasal bridge, Postaxial hand pol... |
OMIM:206920 |
| Transaldolase Deficiency |
|
Atrial septal defect, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Edema, Coarctat... |
ORPHA:101028 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, IgA deposition in the glomerulus, Ventricular septal defect, Focal s... |
OMIM:616730 |
| Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Abnormality of the tongue, Broad palm, Intestinal malrotation, Bilateral cleft lip and palate, Ab... |
OMIM:601165 |
| Chromosome 15Q25 Deletion Syndrome |
|
Growth delay, Pectus excavatum, Tented upper lip vermilion, Dextrocardia, Cleft upper lip, Cleft ... |
OMIM:614294 |
| Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Short philtrum, Atrial septal defect, Narrow mouth, Aortic regurgitation, Bifid ureter, Bronchiec... |
OMIM:601347 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Scoliosis, Bulbous nose, Open mouth, High, narrow palate, Hip dysplasia, Long philtrum, Gastroeso... |
OMIM:618494 |
| Sonoda Syndrome |
|
Narrow mouth, Ventricular septal defect, Short stature, High axial triradius, Depressed nasal bridge |
OMIM:270460 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Midshaft hypospadias, Depressed nasal tip, Ab... |
ORPHA:2863 |
| Hutchinson-Gilford Progeria Syndrome |
|
Limited wrist movement, Thin vermilion border, Ventricular hypertrophy, Narrow mouth, Dental crow... |
ORPHA:740 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Glutaric aciduria, D-2-hydroxyglutaric aciduria, Micrognathia, Cardiomyopathy |
OMIM:600721 |
| Neuraminidase Deficiency |
|
Epiphyseal stippling, Hydrops fetalis, Facial edema, Urinary excretion of sialylated oligosacchar... |
OMIM:256550 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Short nose, Oligohydramnios, Finger syndactyly, Split hand, Malar flattening,... |
ORPHA:2145 |
| Acitretin/Etretinate Embryopathy |
|
Anteverted nares, Atrioventricular canal defect, Maternal teratogenic exposure, Abnormality of th... |
ORPHA:40366 |
| Kniest-Like Dysplasia, Lethal |
|
Polyhydramnios, Narrow mouth, Metaphyseal irregularity, Narrow chest, Patent ductus arteriosus, P... |
OMIM:245190 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Nephronophthisis, Abnormality of the ribs, Postaxial hand polydacty... |
ORPHA:474 |
| Kleefstra Syndrome |
|
Scoliosis, Downturned corners of mouth, Mandibular prognathia, Vesicoureteral reflux, Pulmonary a... |
ORPHA:261494 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Scoliosis, Carious teeth, Dental crowding, Camptodactyly, Intestinal malrotation, High palate, Na... |
OMIM:617602 |
| Suleiman-El-Hattab Syndrome |
|
Long philtrum, Atrial septal defect, Drooling, Downturned corners of mouth, Ventricular septal de... |
OMIM:618950 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Broad nasal tip, Oligohydramnios, Ventricular septal defect, Lymphedema, At... |
OMIM:601927 |
| Mental Retardation, Buenos Aires Type |
|
Carious teeth, Atrial septal defect, Cuboid-shaped thoracolumbar vertebral bodies, Pectus carinat... |
OMIM:249630 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Glossoptosis, Ventricular septal defect |
OMIM:614876 |
| Isolated Pierre Robin Syndrome |
|
Micrognathia, Glossoptosis, Abnormality of the pharynx, Cleft palate |
ORPHA:718 |
| Coffin-Siris Syndrome 5 |
|
Short philtrum, Atrial septal defect, Cerebellar hypoplasia, Wide mouth, Thick nasal alae, Sandal... |
OMIM:616938 |
| Fetal Trimethadione Syndrome |
|
Scoliosis, Atrial septal defect, Short nose, Ventricular septal defect, Bilateral single transver... |
ORPHA:1913 |
| Achondrogenesis, Type Ia |
|
Polyhydramnios, Hypoplasia of the radius, Unossified vertebral bodies, Abnormal hand bone ossific... |
OMIM:200600 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... |
ORPHA:216694 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral morph... |
OMIM:314390 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Left ve... |
ORPHA:99050 |
| Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
Polyhydramnios, Narrow chest, Mandibular prognathia, High palate, Long philtrum, Pectus excavatum... |
OMIM:618975 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Long philtrum, Short nose, Pericardial effusion, Kyphosis, Wide mouth, Decreased fetal movement, ... |
OMIM:608776 |
| Distal Monosomy 7Q36 |
|
Short neck, Bulbous nose, Micrognathia, Pectus excavatum, Wide mouth, Symphalangism affecting the... |
ORPHA:1636 |
| Metatropic Dysplasia |
|
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Narr... |
ORPHA:2635 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Macroglossia, Anteverted nares, Ventricular septal defect, Patent ductus arteriosus, Umbilical he... |
OMIM:612938 |
| Hyperphosphatasia With Mental Retardation Syndrome 1 |
|
Short philtrum, Short toe, Abnormal renal morphology, Broad nasal tip, Downturned corners of mout... |
OMIM:239300 |
| 22Q11.2 Duplication Syndrome |
|
Scoliosis, Interrupted aortic arch, Ventricular septal defect, Micrognathia, Depressed nasal ridg... |
ORPHA:1727 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Enamel hypoplasia, Scoliosis, Oligodontia, Dental crowding, Postnatal growth retardation, Patent ... |
OMIM:619184 |
| Nphp3-Related Meckel-Like Syndrome |
|
Polyhydramnios, Oligohydramnios, Intestinal malrotation, Multicystic kidney dysplasia, Renal dysp... |
ORPHA:3032 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Abnormal heart morphology, Growth delay, Short stature, Recurrent respirato... |
OMIM:617744 |
| Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Recurrent urinary tract infections, Pneumonia, Arnold-Chiari malformation,... |
ORPHA:309282 |
| Myhre Syndrome |
|
Thin vermilion border, Large iliac wing, Narrow mouth, Mandibular prognathia, Gingival cleft, Abn... |
ORPHA:2588 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Ventricular septal defect, Cerebellar vermis hypoplasia, Abnormality of the dentition, Short stat... |
OMIM:616901 |
| Fontaine Progeroid Syndrome |
|
Scoliosis, Oligodontia, Narrow mouth, Mandibular prognathia, Patent ductus arteriosus, Tricuspid ... |
OMIM:612289 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia of the proximal phalanges of the hand, Polyhydramnios, Finger syndactyly, Ventricular sep... |
ORPHA:2256 |
| Trisomy 18 |
|
Narrow palate, Narrow mouth, Choanal atresia, Bilateral single transverse palmar creases, Arnold-... |
ORPHA:3380 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Short distal phalanx of finger, Clin... |
OMIM:614261 |
| Tetralogy Of Fallot |
|
Thin vermilion border, Intrauterine growth retardation, Tetralogy of Fallot, Clinodactyly of the ... |
ORPHA:3303 |
| Raine Syndrome |
|
Enamel hypoplasia, Narrow mouth, Choanal stenosis, Hydroureter, Mandibular prognathia, Natal toot... |
OMIM:259775 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hypoplasia of the radius, Mesomelia, Solitary median maxillary central incisor, Hand oligodactyly... |
OMIM:602418 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, Broad nasal tip, Polydactyly, Syndactyly, Hypoplasia of the epigl... |
OMIM:300484 |
| Trisomy 4P |
|
Scoliosis, Radial club hand, Carious teeth, Preaxial hand polydactyly, Camptodactyly of finger, A... |
ORPHA:1738 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Thin vermilion border, Downturned corners of mouth, Underdeveloped nasal alae, Patent ductus arte... |
ORPHA:163956 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Pulmonary hemorrhage, Short philtrum, Aortic regurgitation, Aminoaciduria, Clinodactyly, Proteinuria |
OMIM:603585 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Scoliosis, Mandibular prognathia, Left superior vena cava draining to coronary sinus, Pulmonary a... |
ORPHA:464738 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Broad thumb, Abnormality of the philtrum, Ventricular septal defect, Short columella, Large hands... |
ORPHA:1770 |
| Restrictive Dermopathy, Lethal |
|
Polyhydramnios, Short umbilical cord, Narrow mouth, Natal tooth, Patent ductus arteriosus, Choana... |
OMIM:275210 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polyhydramnios, Carious teeth, Narrow palate, Abnormal proximal phalanx morphology of the hand, B... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polyhydramnios, Carious teeth, Narrow palate, Abnormal proximal phalanx morphology of the hand, B... |
ORPHA:353277 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Scoliosis, Narrow mouth, Slender long bones with narrow diaphyses, Abnormality of the elbow, Prom... |
ORPHA:536471 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Sandal gap, Intrauterine growth retardation, Short stature, Dilated ca... |
ORPHA:2515 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Scoliosis, Broad thumb, Bulbous nose, Downturned corners of mouth, Patent ductus arteriosus, Pate... |
ORPHA:329224 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Ventricular septal defect, Aplasia/Hypoplasia of the radius, Non-midline cleft lip,... |
ORPHA:2476 |
| Zechi-Ceide Syndrome |
|
Oligodontia, Short metatarsal, Underdeveloped nasal alae, Cerebellar vermis hypoplasia, Sandal ga... |
OMIM:612916 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Broad thumb, Ventricular septal defect, Short middle phalanx of finger, Aplas... |
OMIM:113000 |
| 20Q13.33 Microdeletion Syndrome |
|
Abnormality of limb bone morphology, Talipes equinovarus, Thin vermilion border, Atrial septal de... |
ORPHA:261311 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Dental crowding, Camptodactyly, Patent ductus arteriosus, H... |
ORPHA:397709 |
| Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Hypoplasia of the radius, Narrow mouth, Microretrognathia, Patent ductus arteri... |
ORPHA:1972 |
| Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Preaxial hand polydactyly, Cleft upper lip, Cleft palate |
OMIM:601420 |
| Codas Syndrome |
|
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Congenital hip dislocati... |
ORPHA:1458 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Abnormal thumb morphology, Short neck, Severe short-limb dwarfism, Abnormal... |
ORPHA:1842 |
| Whistling Face Syndrome, Recessive Form |
|
Long philtrum, Talipes equinovarus, Short neck, Narrow mouth, Underdeveloped nasal alae, Microgna... |
OMIM:277720 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Horseshoe kidney, Bulbous nose, Ventricular septal defect, Mandibular prognathia, Recurrent urina... |
OMIM:619103 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Metaphyseal widening, Disproportionate short stature, Ovoid vertebral bodies, Bell-shaped thorax,... |
OMIM:611702 |
| Craniofacioskeletal Syndrome |
|
Shield chest, Hypoplastic frontal sinuses, Patent ductus arteriosus, Choanal atresia, Micrognathi... |
OMIM:300712 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hydrops fetalis, Narrow chest, Abnormal pelvis bone ossification, Abnormality of the metaphysis, ... |
ORPHA:93271 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Unilateral renal agenesis, Postnatal growth retardation, Intrauterine growt... |
OMIM:616603 |
| Orofaciodigital Syndrome Type 4 |
|
Split hand, Choanal atresia, Oral cleft, Aplasia/Hypoplasia of the tibia, Rectovaginal fistula, R... |
ORPHA:2753 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Scoliosis, Broad thumb, Absent radius, Phocomelia, Micrognathia, Abnormality of the kidney, Genu ... |
ORPHA:3320 |
| C Syndrome |
|
Scoliosis, Patent ductus arteriosus, High palate, Micrognathia, Dislocated radial head, Postaxial... |
OMIM:211750 |
| Martsolf Syndrome 1 |
|
Short phalanx of finger, Slender ulna, Metatarsus adductus, Cardiac arrest, Broad fingertip, High... |
OMIM:212720 |
| Zechi-Ceide Syndrome |
|
Thin vermilion border, Oligodontia, Short philtrum, Short metatarsal, Downturned corners of mouth... |
ORPHA:217017 |
| Fetal Parvovirus Syndrome |
|
Hydrops fetalis, Increased nuchal translucency, Ascites, Intrauterine growth retardation, Hypertr... |
ORPHA:295 |
| Fetal Akinesia Deformation Sequence |
|
Scoliosis, Camptodactyly of finger, Polyhydramnios, Fetal akinesia sequence, Intestinal hypoplasi... |
ORPHA:994 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Scoliosis, Short philtrum, Atrial septal defect, Ventricular septal defect, Micrognathia, Sacral ... |
OMIM:608227 |
| Mental Retardation, Autosomal Dominant 23 |
|
Scoliosis, Long philtrum, Broad distal phalanx of finger, Hyperlordosis, Drooling, Downturned cor... |
OMIM:615761 |
| Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow disloc... |
ORPHA:1106 |
| Marden-Walker Syndrome |
|
Scoliosis, Narrow mouth, Hydroureter, Dextrocardia, Metatarsus adductus, Epispadias, Renal hypopl... |
ORPHA:2461 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Umbilical hernia, Clinodactyly of the 5th finger, Micrognathia, Depres... |
ORPHA:1918 |
| Schinzel-Giedion Syndrome |
|
Scoliosis, Choanal stenosis, Camptodactyly, Abnormal thorax morphology, Short distal phalanx of f... |
ORPHA:798 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Thin vermilion border, Carious teeth, Short nose, Anteverted nares, Deep philtrum, Abnormal palat... |
ORPHA:2701 |
| Loeys-Dietz Syndrome 2 |
|
Scoliosis, Generalized arterial tortuosity, Camptodactyly, Abnormal sternum morphology, Patent du... |
OMIM:610168 |
| Marshall-Smith Syndrome |
|
Scoliosis, Prominence of the premaxilla, Choanal stenosis, Patent ductus arteriosus, Choanal atre... |
OMIM:602535 |
| Smith-Magenis Syndrome |
|
Scoliosis, Open mouth, Mandibular prognathia, Abnormal tracheobronchial morphology, Delayed puber... |
ORPHA:819 |
| Keratoconus Posticus Circumscriptus |
|
Short neck, Growth delay, Recurrent urinary tract infections, Vesicoureteral reflux, Limited elbo... |
OMIM:244600 |
| Kabuki Syndrome 2 |
|
Natal tooth, Postnatal growth retardation, High palate, Prominent fingertip pads, Micrognathia, B... |
OMIM:300867 |
| Meckel Syndrome, Type 8 |
|
Postaxial hand polydactyly, Hyperechogenic kidneys, Short nose, Polydactyly, Cleft upper lip, Cle... |
OMIM:613885 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Narrow palate, Abnormal proximal phalanx morphology of the hand, Broad thumb, Dent... |
ORPHA:353281 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
