| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Dysplastic tricuspid valve, Hydronephrosis, Micrognathia, Hypoplastic left heart, Ventricular sep... |
OMIM:265380 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Renal agenesis, Abnormal hip bone morphology, Abnormality of the vertebral column, Stillbirth, Sy... |
ORPHA:294975 |
| Robinow Syndrome |
|
Acromesomelia, Broad nasal tip, Missing ribs, Long philtrum, Tricuspid atresia, Hydronephrosis, M... |
ORPHA:97360 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Brachydactyly, Ectopic kidney, Long philtrum, Atrial septal defect, Intestinal malrotation, Dislo... |
ORPHA:401935 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal agenesis, Abnormal lung lobation, Short neck, Intrauterine growth retardation, Renal hypopl... |
ORPHA:2516 |
| Cardioacrofacial Dysplasia 2 |
|
Brachydactyly, Clubbing, Accessory oral frenulum, Short philtrum, Postaxial foot polydactyly, Con... |
OMIM:619143 |
| Emanuel Syndrome |
|
Long philtrum, Micrognathia, Scoliosis, Ventricular septal defect, Cleft palate, Renal agenesis, ... |
OMIM:609029 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cerebellar hypoplasia, Decreased fibular diameter, Hydronephrosis, Micrognathia, Ventricular sept... |
OMIM:616897 |
| Ritscher-Schinzel Syndrome 1 |
|
Tetralogy of Fallot, Missing ribs, Intrauterine growth retardation, Atrial septal defect, Hydrone... |
OMIM:220210 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Bifid uvula, Long philtrum, Micrognathia, Dandy-Walker malformation, S... |
ORPHA:96170 |
| Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Dandy-Walker malformation, Hypoplastic iliac wing, Narrow chest, Genu valgum, Co... |
OMIM:225500 |
| Genitopalatocardiac Syndrome |
|
Renal cyst, Cleft upper lip, Hypospadias, Double outlet right ventricle, Micrognathia, Right aort... |
OMIM:231060 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Fibular hypoplasia, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, ... |
OMIM:617925 |
| Trisomy 13 |
|
Long philtrum, Hydronephrosis, High, narrow palate, Abnormal rib morphology, Scoliosis, Ventricul... |
ORPHA:3378 |
| Meier-Gorlin Syndrome 7 |
|
Scoliosis, Duodenal stenosis, Ventricular septal defect, Chiari type I malformation, Aplasia/Hypo... |
OMIM:617063 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Long nose, Left-to-right shunt, Recurrent urinary tract infections, Re... |
ORPHA:363444 |
| Pallister-Hall-Like Syndrome |
|
Median cleft lip, Short ribs, Micropenis, Occipital encephalocele, Micrognathia, Microglossia, Ab... |
OMIM:241800 |
| Recombinant Chromosome 8 Syndrome |
|
Clinodactyly of the 5th finger, Hydronephrosis, Double outlet right ventricle, Micrognathia, Scol... |
OMIM:179613 |
| Catel-Manzke Syndrome |
|
Metatarsus valgus, Abnormality of epiphysis morphology, Atrial septal defect, Clinodactyly of the... |
ORPHA:1388 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Renal agenesis, Dilated cardiomyopathy, Aortic regurgitation, Pulmonary artery hypoplasia, Pulmon... |
ORPHA:2326 |
| Congenital Alveolar Capillary Dysplasia |
|
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Intestinal malrotation, Hydr... |
ORPHA:210122 |
| Pseudotrisomy 13 Syndrome |
|
Complete atrioventricular canal defect, Renal agenesis, Cleft upper lip, 2-3 toe syndactyly, Tric... |
OMIM:264480 |
| Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Accessory oral frenulum, Short philtrum, Conical tooth, A... |
OMIM:619142 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Bilateral talipes equinovarus, High palate, Unilateral renal agenesis, Intrauterine growth retard... |
OMIM:618142 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, High palate, Thoracic scoliosis, Short neck, Long philtrum, Intrauterine growth... |
OMIM:617022 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Bilateral trilobed lungs, Block vertebrae, Total anomalous pulmonary venous return, Cerebellar hy... |
OMIM:306955 |
| Chime Syndrome |
|
Hydronephrosis, Microdontia, Ventricular septal defect, Aplasia/Hypoplasia of the phalanges of th... |
ORPHA:3474 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Hamartoma of tongue, Polycystic kidney dysplasia, Ventricular septal defect, Pol... |
OMIM:263520 |
| Truncus Arteriosus |
|
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... |
ORPHA:3384 |
| Mucopolysaccharidosis, Type X |
|
Long philtrum, Open bite, Widely spaced teeth, Disproportionate short-trunk short stature, Scolio... |
OMIM:619698 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Micrognathia, Ventricular septal defect, Tr... |
OMIM:228940 |
| Mulibrey Nanism |
|
Ascites, Cardiomegaly, Pericardial constriction, Single transverse palmar crease, Intrauterine gr... |
OMIM:253250 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Sandal gap, Clinodactyly of the 5th finger, High, narrow palate, Recur... |
ORPHA:261330 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Cutaneous syndactyly, Atrial... |
OMIM:618316 |
| Mosaic Trisomy 9 |
|
Endocardial fibroelastosis, Hydronephrosis, Dextrocardia, Micrognathia, Micromelia, Dandy-Walker ... |
ORPHA:99776 |
| Trisomy 1Q |
|
Cerebellar hypoplasia, Hydronephrosis, Abnormal rib morphology, Multicystic kidney dysplasia, Ven... |
ORPHA:261344 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Absent distal interphalangeal creases, Cerebellar hypoplasia, Hand clenchin... |
ORPHA:1692 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Complete atrioventricular canal defect, Dilated cardiomyopathy, High palate, Clinodactyly, Patent... |
OMIM:619343 |
| 19P13.12 Microdeletion Syndrome |
|
Long philtrum, Sandal gap, Clinodactyly of the 5th finger, Scoliosis, Ventricular septal defect, ... |
ORPHA:254346 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Underdeveloped nasal alae, Hydranencephaly, Short distal phalanx of fi... |
OMIM:601355 |
| Down Syndrome |
|
Complete atrioventricular canal defect, Atlantoaxial instability, Shallow acetabular fossae, Shor... |
OMIM:190685 |
| Femoral-Facial Syndrome |
|
Missing ribs, Long philtrum, Underdeveloped nasal alae, Micrognathia, Polycystic kidney dysplasia... |
OMIM:134780 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Long philtrum, Duplication of phalanx of hand, Clinodactyly of the 5th finger, Micrognathia, Spin... |
ORPHA:508498 |
| Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Accessory oral frenulum, Short philtrum, Cervical ribs, Single transverse palmar c... |
OMIM:617927 |
| 3C Syndrome |
|
Abnormal hip bone morphology, Missing ribs, Abnormal mitral valve morphology, Hydronephrosis, Hig... |
ORPHA:7 |
| Otopalatodigital Syndrome Type 2 |
|
Carpal synostosis, Cerebellar hypoplasia, Hydronephrosis, Short thumb, Abnormal rib morphology, M... |
ORPHA:90652 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... |
ORPHA:2631 |
| Turnpenny-Fry Syndrome |
|
Clinodactyly, Tapered finger, Widely spaced teeth, Microdontia, Small hand, Mandibular prognathia... |
OMIM:618371 |
| Fibrochondrogenesis 1 |
|
Long philtrum, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger... |
OMIM:228520 |
| Scimitar Syndrome |
|
Abnormality of the vertebral column, Pulmonary artery hypoplasia, Tricuspid atresia, Left-to-righ... |
ORPHA:185 |
| Hadziselimovic Syndrome |
|
High palate, Tetralogy of Fallot, Atrial septal defect, Renal hypoplasia, Cerebellar hypoplasia, ... |
OMIM:612946 |
| Atelosteogenesis, Type Ii |
|
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... |
OMIM:256050 |
| Acrocardiofacial Syndrome |
|
Foot polydactyly, Mitral stenosis, Ventricular septal defect, Hallux valgus, Cleft palate, Cleft ... |
ORPHA:2008 |
| Sandestig-Stefanova Syndrome |
|
Clinodactyly, High palate, Short neck, Intrauterine growth retardation, Rocker bottom foot, Muscu... |
OMIM:618804 |
| Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Dextrocardia, Micrognathia, Ventricular septal defect, Cleft pala... |
OMIM:616145 |
| Van Esch-O'Driscoll Syndrome |
|
Bifid uvula, Intrauterine growth retardation, Atrial septal defect, Cerebellar hypoplasia, Growth... |
OMIM:301030 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal hip bone morphology, Tetralogy of Fallot, Abnormality of lower lip, Tooth agenesis, Micr... |
ORPHA:1166 |
| Fryns Syndrome |
|
Long philtrum, Clinodactyly of the 5th finger, Hydronephrosis, Tented upper lip vermilion, Microg... |
ORPHA:2059 |
| Achondrogenesis Type 1B |
|
Short neck, Aplasia/Hypoplasia of the lungs, Short thorax, Long philtrum, Severe short stature, H... |
ORPHA:93298 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, High palate, Kyphosis, 2-3 toe syndactyly, Short palm, Lo... |
ORPHA:476126 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... |
ORPHA:1330 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Fetal pyelectasis, Cerebellar dysplasia, Cerebellar hypoplasia, Overlapping fingers, Cerebellar v... |
OMIM:616531 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Narrow mouth, Clinodactyly, Single transverse palmar crease, Aortic regurgitation, Bulbous nose, ... |
OMIM:614114 |
| Adams-Oliver Syndrome 6 |
|
Brachydactyly, Portal hypertension, Renal hypoplasia, Esophageal varix, Foot oligodactyly, Ventri... |
OMIM:616589 |
| Mucolipidosis Ii Alpha/Beta |
|
Long philtrum, Macroglossia, Abnormal rib cage morphology, Metaphyseal widening, Cardiomegaly, Hi... |
OMIM:252500 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Microdontia, Short uvula, Polycystic kidney dysplasia, Micromelia, Ascites, Narrow chest, Cleft p... |
OMIM:614091 |
| Arterial Tortuosity Syndrome |
|
Hiatus hernia, High palate, Pectus carinatum, Aortic regurgitation, Long philtrum, Generalized ar... |
OMIM:208050 |
| Phenobarbital Embryopathy |
|
Brachydactyly, Tetralogy of Fallot, Abnormal mitral valve morphology, Unilateral cleft lip, Aplas... |
ORPHA:1919 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Intrauterine growth retardation, Underdeveloped nasal alae, Short stature, Malar flattening, Smoo... |
OMIM:611867 |
| Kagami-Ogata Syndrome |
|
Long philtrum, Micrognathia, Ventricular septal defect, Retrognathia, Patent ductus arteriosus, L... |
OMIM:608149 |
| Odontochondrodysplasia 1 |
|
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Long philtrum, Polycys... |
OMIM:184260 |
| Achondrogenesis Type 1A |
|
Short neck, Short palm, Aplasia/Hypoplasia of the lungs, Short thorax, Long philtrum, Hydrops fet... |
ORPHA:93299 |
| Periventricular Nodular Heterotopia |
|
Shoulder dislocation, Abnormal heart valve morphology, Aortic regurgitation, Patent ductus arteri... |
ORPHA:98892 |
| Distal Monosomy 19P13.3 |
|
Short philtrum, Long toe, Tricuspid valve prolapse, Arachnodactyly, Hypoplasia of the maxilla, Pu... |
ORPHA:96129 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Sandal gap, Recurrent shoulder dislocation, Hallux valgus, Mitral regurgitation, Genu valgum, Lef... |
ORPHA:230851 |
| Mosaic Trisomy 16 |
|
Clinodactyly, Single coronary artery origin, Short thumb, Abnormal thorax morphology, Short forea... |
ORPHA:1708 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Vertebral segmentation defect, Sacral dimple, Short thorax, Patent duc... |
OMIM:618845 |
| Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Intrauterine growth retardation, Depressed nasal ridge, Thin ribs, Micrognathia,... |
OMIM:312150 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Colon cancer, Clinodactyly of the 5th finger, Micrognathia, Multicystic kidney dysplasia, Dandy-W... |
ORPHA:1052 |
| Zttk Syndrome |
|
Unilateral renal agenesis, Bifid uvula, Cerebellar hypoplasia, Polyuria, Scoliosis, Intestinal at... |
OMIM:617140 |
| Seckel Syndrome 9 |
|
Intrauterine growth retardation, Pulmonary artery hypoplasia, Atrial septal defect, Convex nasal ... |
OMIM:616777 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Shoulder dislocation, Coronal cleft vertebrae, Long philtrum, Widely spaced teeth, Narrow vertebr... |
OMIM:143095 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Broad hallux, ... |
OMIM:217095 |
| Marden-Walker Syndrome |
|
Long philtrum, Cerebellar hypoplasia, Dextrocardia, High, narrow palate, Micrognathia, Dandy-Walk... |
OMIM:248700 |
| Orofaciodigital Syndrome Xvii |
|
Clinodactyly, Tetralogy of Fallot, Central Y-shaped metacarpal, Short neck, Micropenis, Renal hyp... |
OMIM:617926 |
| Diamond-Blackfan Anemia 6 |
|
Tetralogy of Fallot, Bifid uvula, Cleft upper lip, Patent ductus arteriosus, Atrial septal defect... |
OMIM:612561 |
| Tarp Syndrome |
|
Clinodactyly, Abnormal duodenum morphology, Cerebellar hypoplasia, Hydronephrosis, Micrognathia, ... |
ORPHA:2886 |
| Thanatophoric Dysplasia |
|
Brachydactyly, Abnormal ilium morphology, Kyphosis, Short thorax, Patent ductus arteriosus, Intra... |
ORPHA:2655 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... |
OMIM:613854 |
| Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Cystic renal dysplasia, Broad palm, Hamartoma of tongue, Ventricular septal defe... |
OMIM:269860 |
| Burn-Mckeown Syndrome |
|
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, 2-3 toe syndactyly, Underdeveloped na... |
OMIM:608572 |
| Grange Syndrome |
|
Short palm, Patent ductus arteriosus, Aortic regurgitation, Hypertension, Ventricular septal defe... |
ORPHA:79094 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Coronary artery atherosclerosis, Prenatal maternal abnormality, Scoliosis, H... |
ORPHA:91387 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal tricuspid valve morphology, Abnormal form of the vertebral bodies, Atrial sept... |
ORPHA:1354 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Micrognathia, Glossoptosis, Cor pulmonale, Cleft palate |
OMIM:261800 |
| Brachydactyly, Type C |
|
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... |
OMIM:113100 |
| Mucolipidosis Iii Gamma |
|
Flat capital femoral epiphysis, Short neck, Aortic regurgitation, Kyphosis, Flared iliac wing, Hy... |
OMIM:252605 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Clinodactyly, Long philtrum, Hypoplastic right heart, Micrognathia, Scoliosis, Ventricular septal... |
OMIM:616894 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Hamartoma of tongu... |
OMIM:613091 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Horizontal ribs, Cerebellar hypoplasia, Squared iliac bones, Dandy-Walker malformation, Narrow ch... |
OMIM:616300 |
| Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Pulmonic stenosis, ... |
OMIM:609008 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Hydronephrosis, Micrognathia, Single ventricle, Ventricular septal defect, Rig... |
OMIM:601186 |
| Infantile Sialic Acid Storage Disease |
|
High palate, Metaphyseal irregularity, Nephrotic syndrome, Congestive heart failure, Hydrops feta... |
OMIM:269920 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Clinodactyly of the 5th finger, Hydronephrosis, Short thumb, Micrognathia, Sho... |
ORPHA:391641 |
| Marfanoid Hypermobility Syndrome |
|
High palate, Aortic regurgitation, High, narrow palate, Pectus excavatum, Arachnodactyly, Aortic ... |
OMIM:154750 |
| Cardiac Diverticulum |
|
Aplasia/Hypoplasia of the sternum, Pulmonary artery hypoplasia, Tricuspid atresia, Premature vent... |
ORPHA:1686 |
| Monosomy 13Q34 |
|
Fetal pyelectasis, Hematochezia, Epistaxis, Broad nasal tip, Postaxial foot polydactyly, Growth d... |
ORPHA:96168 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Short 2nd finger, Cleft upper lip, 2-3 toe syndactyly, Cutaneous syndactyly, Atrial septal defect... |
OMIM:600987 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Atrial septal defect, Hydrops fetalis, Multicystic kidney dyspl... |
ORPHA:1909 |
| Tonne-Kalscheuer Syndrome |
|
Brachydactyly, Narrow mouth, Velopharyngeal insufficiency, Micropenis, Wide nasal bridge, Growth ... |
OMIM:300978 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Short neck, Underdeveloped nasal alae, Convex nasal ridge, Micrognathia, ... |
OMIM:263210 |
| Mmep Syndrome |
|
Triphalangeal thumb, Ventricular septal defect, Mandibular prognathia, Oral cleft, Split foot, Me... |
ORPHA:3434 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Cerebellar hypoplasia, Clinodactyly of the 5th finger, Renal dysplasia, Oligohydramnios, Brachyda... |
OMIM:236500 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Clinodactyly o... |
ORPHA:3104 |
| Hurler Syndrome |
|
Broad nasal tip, Hypoplasia of the femoral head, Endocardial fibroelastosis, Urinary glycosaminog... |
OMIM:607014 |
| Scheie Syndrome |
|
Short neck, Aortic regurgitation, Spondylolisthesis, Depressed nasal bridge, Mandibular prognathi... |
OMIM:607016 |
| 2P15P16.1 Microdeletion Syndrome |
|
Long philtrum, Cerebellar hypoplasia, Sandal gap, Hydronephrosis, Tapered finger, Everted lower l... |
ORPHA:261349 |
| Alg12-Cdg |
|
Cerebellar hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Scoliosis, Thin ... |
ORPHA:79324 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Cerebellar hypoplasia, Hydronephrosis, Double outlet right ventricle, Ventricular septal defect, ... |
OMIM:301056 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Cervical kyphosis, Broad nasal tip, Short neck, Aortic regurgitation, Tap... |
ORPHA:401923 |
| Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs, Non-midline cleft lip, Amelia involving the upper limbs, Hypopla... |
ORPHA:1027 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspid valve mo... |
OMIM:616749 |
| Intellectual Disability, Wolff Type |
|
Bulbous nose, Non-midline cleft lip, Clinodactyly of the 5th finger, Thick lower lip vermilion, W... |
ORPHA:3080 |
| Coffin-Lowry Syndrome |
|
Narrow iliac wing, Broad palm, Tapered finger, Everted lower lip vermilion, Widely spaced teeth, ... |
OMIM:303600 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Broad hallux, Coarctation of... |
OMIM:217085 |
| Holzgreve Syndrome |
|
Renal agenesis, Cleft upper lip, Renal hypoplasia, Hand polydactyly, Hypoplastic left heart, Clef... |
OMIM:236110 |
| Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Micromelia, Narrow chest, Cleft palate, Bowing of the long bones, Short thorax, Hypop... |
ORPHA:85166 |
| Diaphanospondylodysostosis |
|
Missing ribs, Cystic renal dysplasia, Hammertoe, Disproportionate short-trunk short stature, Micr... |
OMIM:608022 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Cystic renal dysplasia, Oligohydramnios, Hypertrophic cardiomyopathy, Situs inve... |
OMIM:615415 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Patent ductus arteriosus, Bulbous nose, Broad hallux, Coarctation of aorta, B... |
OMIM:612474 |
| Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... |
ORPHA:1505 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Tetralogy of Fallot, Finger syndactyly, Intrauterine growth retardation, Non-midline cleft lip, A... |
ORPHA:1908 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Clinodactyly of the 5th finger, Tapered finger, Micrognathia, Short distal... |
OMIM:311895 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Narrow mouth, Neonatal death, Wide nasal bridge, Micrognathia, Anisospo... |
OMIM:224410 |
| Alg9-Cdg |
|
Bifid uvula, Ureteral hypoplasia, Long philtrum, Underdeveloped nasal alae, Hydronephrosis, Micro... |
ORPHA:79328 |
| Double Outlet Right Ventricle |
|
Narrow mouth, Tetralogy of Fallot, Intestinal malrotation, Double outlet right ventricle, Pulmoni... |
ORPHA:3426 |
| Meacham Syndrome |
|
Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Patent ductus arteriosus, Bicusp... |
OMIM:608978 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Small thenar eminence, Tapered finger, Short thumb, Tented upper lip vermilion, Micrognathia, Dan... |
OMIM:619148 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... |
OMIM:208530 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... |
OMIM:614980 |
| Keutel Syndrome |
|
Emphysema, Sinusitis, Pulmonary artery hypoplasia, Epiphyseal stippling, Short hallux, Short thum... |
OMIM:245150 |
| Noonan Syndrome 14 |
|
Clinodactyly, Long philtrum, High, narrow palate, Scapular winging, Short neck, Aortic regurgitat... |
OMIM:619745 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Intrauterine growth retardation, Depressed nasal ridge, Thin ribs, Micrognathia, Abnormal cervica... |
OMIM:253290 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... |
OMIM:613751 |
| Gm1 Gangliosidosis |
|
Cherry red spot of the macula, Broad nasal tip, Long philtrum, Macroglossia, Scoliosis, Ventricul... |
ORPHA:354 |
| Frontonasal Dysplasia 1 |
|
Brachydactyly, Clinodactyly, Tetralogy of Fallot, Hypoplastic frontal sinuses, Median cleft palat... |
OMIM:136760 |
| Distal Tetrasomy 15Q |
|
Hydronephrosis, Micrognathia, Polycystic kidney dysplasia, Dandy-Walker malformation, Scoliosis, ... |
ORPHA:314588 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Scoliosis, Hypoplasia of the zygomatic bone, Abno... |
ORPHA:958 |
| Orofaciodigital Syndrome Vi |
|
Tongue nodules, High palate, Clinodactyly, Brachydactyly, Central Y-shaped metacarpal, Toe syndac... |
OMIM:277170 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Micrognathia, Micromelia, Broad long bones, Narrow chest, Cleft palate, Enc... |
ORPHA:1865 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Short thumb, Multicystic kidney dysplasia, Renal dysplasia, Esophagitis, Abnormal lung lobation, ... |
ORPHA:2538 |
| Prune Belly Syndrome |
|
Abnormal rib morphology, Multicystic kidney dysplasia, Scoliosis, Recurrent urinary tract infecti... |
ORPHA:2970 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Short neck, Atrial septal defect, Short ribs, Preaxial polydactyly, Aplastic clavicle, Micropenis... |
OMIM:616546 |
| Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Broad nasal tip, Long philtrum, Hypoplastic vertebral bodies, Urin... |
ORPHA:79255 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lumbar vertebrae, Proximal tapering of metacarpals, Urinary glycosaminoglycan... |
OMIM:253220 |
| Holt-Oram Syndrome |
|
Abnormal rib morphology, Hypoplastic left heart, Scoliosis, Ventricular septal defect, Atrioventr... |
ORPHA:392 |
| Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Oligohydramnios, Polyhydramnios, Nephropathy, Renotubu... |
ORPHA:3033 |
| Osteogenesis Imperfecta |
|
Fractures of the long bones, Abnormal hip bone morphology, Cervical kyphosis, Abnormal rib morpho... |
ORPHA:666 |
| Pallister-Hall Syndrome |
|
Preductal coarctation of the aorta, Hydronephrosis, Renal dysplasia, Ventricular septal defect, D... |
OMIM:146510 |
| Gonadal Dysgenesis, Xy Type, With Associated Anomalies |
|
Acromelia, Cleft upper lip, Short columella, Broad palm, Abnormal heart morphology, Short stature... |
OMIM:233430 |
| 8Q24.3 Microdeletion Syndrome |
|
Unilateral renal agenesis, Broad nasal tip, Gastrointestinal hemorrhage, Cleft maxillary alveolus... |
ORPHA:508488 |
| Greenberg Dysplasia |
|
Hypoplastic vertebral bodies, Toxemia of pregnancy, 11 pairs of ribs, Broad palm, Micrognathia, A... |
OMIM:215140 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Renal agenesis, Wide nose, Muscular ventricular septal defect, Tracheo... |
OMIM:619227 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, High palate, Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe synd... |
ORPHA:3304 |
| Mcdonough Syndrome |
|
Clinodactyly, Short philtrum, Single transverse palmar crease, Atrial septal defect, Pulmonic ste... |
OMIM:248950 |
| Hydrolethalus Syndrome 1 |
|
Hydronephrosis, Micrognathia, Dandy-Walker malformation, Ventricular septal defect, Midline defec... |
OMIM:236680 |
| Chromosome 18Q Deletion Syndrome |
|
Bifid uvula, Cerebellar hypoplasia, Scoliosis, Ventricular septal defect, Mandibular prognathia, ... |
OMIM:601808 |
| Temtamy Syndrome |
|
Brachydactyly, Aortic regurgitation, Long philtrum, Convex nasal ridge, Micrognathia, Hypoplasia ... |
OMIM:218340 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Abnormal thumb morphology, Aplasia/Hypoplasia of the lungs, Patent... |
ORPHA:1120 |
| Czeizel-Losonci Syndrome |
|
Hydronephrosis, Dextrocardia, Micrognathia, Spina bifida, 2-3 finger syndactyly, High palate, Sin... |
ORPHA:2437 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Ectopic anus, Aplasia/Hypoplasia of the lungs, Renal hypoplasia/aplasia, Non-midline cleft lip, A... |
ORPHA:2549 |
| Distal Monosomy 15Q |
|
Broad nasal tip, Micrognathia, Multicystic kidney dysplasia, Hypoplastic left heart, Mitral steno... |
ORPHA:1596 |
| Recombinant 8 Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Scoliosis, Ventricular septal defect, Cleft palate,... |
ORPHA:96167 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Brachydactyly, Horizontal ribs, Long philtrum, Short ribs, Lateral clavicle hook, Hypoplasia of t... |
OMIM:617895 |
| Achondrogenesis |
|
Short neck, Short thorax, Aplasia/Hypoplasia of the lungs, Long philtrum, Severe short stature, H... |
ORPHA:932 |
| Phaver Syndrome |
|
Butterfly vertebrae, Myelomeningocele, Abnormal form of the vertebral bodies, Intrauterine growth... |
ORPHA:2876 |
| Verheij Syndrome |
|
Renal agenesis, Clinodactyly, Renal cyst, Short neck, Long philtrum, Renal hypoplasia, Short 5th ... |
OMIM:615583 |
| Acrofacial Dysostosis 1, Nager Type |
|
Unilateral renal agenesis, Clinodactyly, Trismus, Micrognathia, Scoliosis, Ventricular septal def... |
OMIM:154400 |
| Thymic Aplasia With Fetal Death |
|
Renal agenesis, Ureteral agenesis, Truncus arteriosus, Stillbirth, Pulmonary hypoplasia |
OMIM:274210 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Acromesomelia, Clinodactyly of the 5th finger, Hydronephrosis, Scolios... |
ORPHA:464306 |
| Tarp Syndrome |
|
Clinodactyly, Cerebellar hypoplasia, Hydronephrosis, Micrognathia, Cleft palate, Cerebellar vermi... |
OMIM:311900 |
| Duane-Radial Ray Syndrome |
|
Small thenar eminence, Renal malrotation, Sandal gap, Hydronephrosis, Short thumb, Scoliosis, Ven... |
OMIM:607323 |
| Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, High palate, Short neck, Kyphosis, Abnormality of epiphysis morphology, Abnormal f... |
ORPHA:3098 |
| Fixed Subaortic Stenosis |
|
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... |
ORPHA:3092 |
| Mullegama-Klein-Martinez Syndrome |
|
Short philtrum, Long philtrum, Bulbous nose, Clinodactyly of the 5th finger, Wide nasal bridge, C... |
OMIM:301022 |
| Vacterl/Vater Association |
|
Hydronephrosis, Anorectal anomaly, Abnormal rib morphology, Multicystic kidney dysplasia, Abnorma... |
ORPHA:887 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Brachydactyly, Hypoplastic ischia, Missing ribs, Single transverse palmar crease, 2-3 toe syndact... |
OMIM:617866 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Narrow mouth, Small thenar eminence, Ectopic kidney, Abnormality of the vertebral column, Cleft u... |
OMIM:239800 |
| Boomerang Dysplasia |
|
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia o... |
ORPHA:1263 |
| 14Q11.2 Microdeletion Syndrome |
|
Narrow mouth, High palate, Toe syndactyly, Toe clinodactyly, Long philtrum, Patent ductus arterio... |
ORPHA:261120 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cardiac arrest, Broad first metatarsal, Hydronephrosis, Left-to-right shunt, Everted lower lip ve... |
OMIM:619534 |
| Smith-Lemli-Opitz Syndrome |
|
Long philtrum, Hydronephrosis, Abnormal rib morphology, Micrognathia, Multicystic kidney dysplasi... |
ORPHA:818 |
| Maternal Phenylketonuria |
|
Brachydactyly, High palate, Tetralogy of Fallot, Clinodactyly, Deviated nasal septum, Long philtr... |
ORPHA:2209 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Sacral meningocele, Hand polydactyly, Limb duplication, Cleft palate, Hip disloc... |
OMIM:223200 |
| Gm1-Gangliosidosis, Type I |
|
Cherry red spot of the macula, Dilated cardiomyopathy, Abnormal heart valve morphology, Short nec... |
OMIM:230500 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Long philtrum, Dysplastic tricuspid valve, Sandal gap, High, narrow palate, Small hand, Dysplasti... |
OMIM:612863 |
| Femoral-Facial Syndrome |
|
Long philtrum, Abnormal rib morphology, Polycystic kidney dysplasia, Micrognathia, Scoliosis, Thi... |
ORPHA:1988 |
| Atelosteogenesis Type I |
|
Coronal cleft vertebrae, Micrognathia, Scoliosis, Narrow chest, Cleft palate, Brachydactyly, Abno... |
ORPHA:1190 |
| Johnson Neuroectodermal Syndrome |
|
Anosmia, Patent ductus arteriosus, Micropenis, Choanal stenosis, Carious teeth, Growth delay, Rig... |
OMIM:147770 |
| Stankiewicz-Isidor Syndrome |
|
Absent thumb, Sacral dimple, 2-3 toe syndactyly, Patent ductus arteriosus, Ureteral duplication, ... |
OMIM:617516 |
| Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Micrognat... |
OMIM:129540 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Hydronephrosis, Tapered finger, Scoliosis, Ventricular septal defect, ... |
ORPHA:464311 |
| Orofaciodigital Syndrome Type 5 |
|
Bifid uvula, High, narrow palate, Ectopic accessory finger-like appendage, Scoliosis, Accessory o... |
ORPHA:2919 |
| 8P23.1 Microdeletion Syndrome |
|
Tapered finger, Micrognathia, Hypoplastic left heart, Enlarged thorax, Atrioventricular canal def... |
ORPHA:251071 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Tetralogy of Fallot, Aortic regurgitation, Conotruncal defect, Everted lower lip vermilion, Hypop... |
ORPHA:96147 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Vertebral hypoplasia, Hydronephrosis, Mild intrauterine growth retardation, Micrognathia, Scolios... |
OMIM:308050 |
| Alg3-Cdg |
|
High palate, Abnormality of the gastrointestinal tract, Abnormality of limb bone morphology, Abno... |
ORPHA:79321 |
| Blomstrand Lethal Chondrodysplasia |
|
Long philtrum, Micrognathia, Distal shortening of limbs, Broad clavicles, Narrow chest, Short nos... |
ORPHA:50945 |
| Pentalogy Of Cantrell |
|
Renal agenesis, Tetralogy of Fallot, Encephalocele, Abnormal pericardium morphology, Non-midline ... |
ORPHA:1335 |
| Stuve-Wiedemann Syndrome 1 |
|
Smooth tongue, Micrognathia, Scoliosis, Dysphagia, Short tibia, Wide nasal base, Short nose, Bowi... |
OMIM:601559 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Coronal cleft vertebrae, Long philtrum, Micromelia, Scoliosis, Ventricular septal defect, Scapula... |
OMIM:618870 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Renal cyst, Systolic heart murmur, Tricuspid atresia, Atrial septal defect, ... |
OMIM:617478 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Long philtrum, 11 pairs of ribs, Sandal gap, Clinodactyly of the 5th finger, Everted lower lip ve... |
OMIM:617877 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis, Micrognathia, Cardiomyopathy, Abnorma... |
OMIM:608540 |
| Yunis-Varon Syndrome |
|
Absent sternal ossification, Abnormal pelvis bone morphology, Aplasia/Hypoplasia of the clavicles... |
ORPHA:3472 |
| Kapur-Toriello Syndrome |
|
Single transverse palmar crease, Short neck, Patent ductus arteriosus, Cleft upper lip, Atrial se... |
OMIM:244300 |
| Monosomy 18Q |
|
Cerebellar hypoplasia, Left-to-right shunt, Tapered finger, Atlantoaxial abnormality, Mandibular ... |
ORPHA:1600 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Clinodactyly, Broad palm, Tapered finger, Multicystic kidney dysplasia, Abnormal rib cage morphol... |
OMIM:300209 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Brachydactyly, Postaxial polydactyly, Short ribs, Lateral clavicle hook, Preaxial polydactyly, Th... |
OMIM:615503 |
| Autosomal Recessive Robinow Syndrome |
|
Abnormal hip bone morphology, Long philtrum, Open bite, Sandal gap, Clinodactyly of the 5th finge... |
ORPHA:1507 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Clinodactyly, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarcta... |
OMIM:618164 |
| Oculofaciocardiodental Syndrome |
|
Long philtrum, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Short thumb, Flexion contra... |
ORPHA:2712 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal agenesis, Toe syndactyly, Ectopic kidney, Horseshoe kidney, Aortic regurgitation, Bulbous n... |
ORPHA:140952 |
| Orofaciodigital Syndrome Type 6 |
|
Broad nasal tip, Foot polydactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Midl... |
ORPHA:2754 |
| 22Q11.2 Deletion Syndrome |
|
Foot polydactyly, Gastrointestinal hemorrhage, Tricuspid atresia, Long philtrum, Abnormal aortic ... |
ORPHA:567 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Long philtrum, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia... |
ORPHA:56304 |
| Cranioectodermal Dysplasia 2 |
|
Horizontal ribs, Clinodactyly, Everted lower lip vermilion, Widely spaced teeth, Microdontia, Mic... |
OMIM:613610 |
| Osteopathia Striata With Cranial Sclerosis |
|
Bifid uvula, Fibular hypoplasia, Craniofacial osteosclerosis, Clinodactyly of the 5th finger, Mic... |
OMIM:300373 |
| Galloway-Mowat Syndrome 7 |
|
Clinodactyly, Diffuse mesangial sclerosis, Proteinuria, Micrognathia, Ventricular septal defect, ... |
OMIM:618348 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
High palate, Internally rotated shoulders, Elbow flexion contracture, Decreased fetal movement, M... |
OMIM:617468 |
| Meckel Syndrome, Type 1 |
|
Clinodactyly, Foot polydactyly, Cerebellar hypoplasia, Micrognathia, Polycystic kidney dysplasia,... |
OMIM:249000 |
| Hurler-Scheie Syndrome |
|
Kyphosis, Aortic regurgitation, Contracture of the distal interphalangeal joint of the fingers, T... |
OMIM:607015 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the vertebral column, Cervical kyphosis, Epiphyseal stippling of toe phalanges, Ca... |
ORPHA:79345 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Abnormal distal phalanx morphology of finger, Hepatoblastoma, Long philtrum, Metaphyseal spurs, T... |
ORPHA:96334 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Absent vertebral body mineralization, Short ribs, Hydrops fetalis, Disproportion... |
OMIM:200610 |
| Fryns Syndrome |
|
Long philtrum, Hydronephrosis, Short thumb, Tented upper lip vermilion, Dandy-Walker malformation... |
OMIM:229850 |
| Pagod Syndrome |
|
Encephalocele, Pulmonary artery hypoplasia, Arrhythmia, Sudden cardiac death, Situs inversus tota... |
ORPHA:991 |
| Bohring-Opitz Syndrome |
|
Broad palm, Tapered finger, Micrognathia, Dandy-Walker malformation, Ventricular septal defect, S... |
OMIM:605039 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Shoulder dislocation, Kyphosis, Aortic regurgitation, High, narrow palate, Arachnodactyly, Adduct... |
ORPHA:2181 |
| Aarskog-Scott Syndrome |
|
Long philtrum, Clinodactyly of the 5th finger, Broad palm, Everted lower lip vermilion, Small han... |
ORPHA:915 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Abnormal ilium morphology, Ureteral hypoplasia, Long philtrum, Hydronephrosis, Micrognathia, Rena... |
OMIM:614080 |
| Hunter-Macdonald Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Hypertension, Mitral regurgitation, Thin upper lip ver... |
OMIM:611962 |
| Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... |
OMIM:613426 |
| Faciocardiomelic Syndrome |
|
Long philtrum, Micrognathia, Polydactyly, Depressed nasal bridge, Cuboid-shaped vertebral bodies,... |
OMIM:612731 |
| Loeffler Endocarditis |
|
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... |
ORPHA:75566 |
| Carpenter Syndrome 1 |
|
Genu varum, Joint contracture of the hand, Clinodactyly of the 5th finger, Complete duplication o... |
OMIM:201000 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Advanced tarsal ossification, Short ribs, Hydrops fetalis,... |
OMIM:215045 |
| Achondrogenesis Type 2 |
|
Pierre-Robin sequence, Absent vertebral body mineralization, Delayed proximal femoral epiphyseal ... |
ORPHA:93296 |
| Klippel-Trénaunay Syndrome |
|
Upper limb asymmetry, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointest... |
ORPHA:90308 |
| Diamond-Blackfan Anemia 1 |
|
Colon cancer, 11 pairs of ribs, Short thumb, Micrognathia, Ventricular septal defect, Retrognathi... |
OMIM:105650 |
| 3P25.3 Microdeletion Syndrome |
|
Acromesomelia, Tapered finger, High, narrow palate, Coronary artery atherosclerosis, Micrognathia... |
ORPHA:435638 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Single transverse palmar crease, Drooling, Patent ductus arteriosus, Clinodactyly of the 5th fing... |
OMIM:619717 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
High palate, Broad nasal tip, Anteverted nares, Sacral dimple, Long philtrum, Atrioventricular ca... |
OMIM:613792 |
| Smith-Lemli-Opitz Syndrome |
|
Unilateral renal agenesis, Long philtrum, Hammertoe, Gastrointestinal dysmotility, Hydronephrosis... |
OMIM:270400 |
| Cerebrocostomandibular Syndrome |
|
Calcaneal epiphyseal stippling, Long philtrum, 11 pairs of ribs, Clinodactyly of the 5th finger, ... |
OMIM:117650 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Long philtrum, Abnormal aortic valve morphology, Micrognathia, Abnormality of the tongue, Scolios... |
ORPHA:2990 |
| Campomelia, Cumming Type |
|
Brachydactyly, Bowing of the long bones, Pancreatic cysts, Hydrops fetalis, Abnormal thorax morph... |
ORPHA:1318 |
| 8P23.1 Duplication Syndrome |
|
Toe syndactyly, Tetralogy of Fallot, Long philtrum, Hydronephrosis, Pulmonic stenosis, Ventricula... |
ORPHA:251076 |
| Ivic Syndrome |
|
Small thenar eminence, Carpal synostosis, Short thumb, Scoliosis, Short 1st metacarpal, Hypoplasi... |
OMIM:147750 |
| Thomas Syndrome |
|
Cleft upper lip, Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia, ... |
ORPHA:3316 |
| X-Linked Intellectual Disability, Siderius Type |
|
Broad nasal tip, Cleft upper lip, Preaxial hand polydactyly, Scoliosis, Oral cleft, Large hands |
ORPHA:85287 |
| Endocrine-Cerebroosteodysplasia |
|
Sandal gap, Micrognathia, Micromelia, Ulnar deviation of the hand or of fingers of the hand, Hype... |
OMIM:612651 |
| Caudal Regression Syndrome |
|
Missing ribs, Hypoplastic vertebral bodies, Scoliosis, Hypertension, Renal agenesis, Anal atresia... |
ORPHA:3027 |
| Serkal Syndrome |
|
Renal agenesis, Malrotation of small bowel, Abnormal penis morphology, Growth delay, Pulmonic ste... |
ORPHA:139466 |
| Teebi Hypertelorism Syndrome 1 |
|
Long philtrum, Aortic root aneurysm, Atrial septal defect, Broad palm, Wide nasal bridge, Microgn... |
OMIM:145420 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... |
OMIM:619702 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Coronal cleft vertebrae, Amelogenesis imperfecta, Micrognathia, Disproportionate short stature, S... |
OMIM:618363 |
| Eng-Strom Syndrome |
|
Brachydactyly, Intrauterine growth retardation, Pectus excavatum, Scoliosis, Short stature, Ventr... |
ORPHA:1937 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the vertebral column, Sacroiliac arthritis, Abnormal metatarsal morphology, Abnorm... |
ORPHA:85438 |
| Aneurysm-Osteoarthritis Syndrome |
|
Bifid uvula, Protrusio acetabuli, Scoliosis, Atrial fibrillation, Retrognathia, Mitral regurgitat... |
ORPHA:284984 |
| Disproportionate Short Stature With Ptosis And Valvular Heart Lesions |
|
High palate, Clinodactyly, Abnormal heart valve morphology, Short palm, Abnormality of the dentit... |
OMIM:126190 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Upper limb undergrowth, Nonimmune hydrops fetalis, Hydrops fetalis, Polyhydramnios, Thoracic hypo... |
OMIM:613124 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Abnormal 3rd finger morphology, Patent ductus arteriosus, Atrial septal defect, Everted lower lip... |
OMIM:249670 |
| Koolen-De Vries Syndrome |
|
Hydronephrosis, Everted lower lip vermilion, Widely spaced teeth, Scoliosis, Pear-shaped nose, Re... |
OMIM:610443 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Emphysema, Bladder diverticulum, Patent foramen ovale, Long philtrum, Sandal gap, Gastroesophagea... |
OMIM:613177 |
| Filippi Syndrome |
|
Short philtrum, Cerebellar atrophy, Single transverse palmar crease, Intrauterine growth retardat... |
OMIM:272440 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Tented upper lip vermilion, Dandy-Walker malformation, Ventricula... |
OMIM:612582 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Clubbing, Patent foramen ovale, Systolic heart murmur, Congestive heart... |
ORPHA:439 |
| Syndactyly Type 2 |
|
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... |
ORPHA:93403 |
| Orofaciodigital Syndrome V |
|
High palate, Tetralogy of Fallot, Bifid uvula, Horseshoe kidney, Postaxial foot polydactyly, Lobu... |
OMIM:174300 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia, Maternal... |
ORPHA:1208 |
| Vater/Vacterl Association |
|
Hydronephrosis, Short thumb, Abnormal rib morphology, Patent urachus, Renal dysplasia, Scoliosis,... |
OMIM:192350 |
| Genitopatellar Syndrome |
|
Hypoplastic ischia, Wide nose, Short palm, Delayed eruption of teeth, Long philtrum, Atrial septa... |
ORPHA:85201 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Abnormality of toe, Unilateral renal agenesis, Broad nasal tip, Chordee, Underdeveloped nasal ala... |
ORPHA:268261 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... |
ORPHA:2725 |
| Primary Pulmonary Hypoplasia |
|
Ureteral stenosis, Patellar hypoplasia, Intrauterine growth retardation, Dextrocardia, Micrognath... |
ORPHA:2257 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Hypoplastic right heart, Micrognathia, Ventricular septal defect, Split foot |
OMIM:601348 |
| Synpolydactyly 1 |
|
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... |
OMIM:186000 |
| Familial Aortic Dissection |
|
Mucoid extracellular matrix accumulation, Aortic regurgitation, Patent ductus arteriosus, Aortic ... |
ORPHA:229 |
| Microcephaly-Micromelia Syndrome |
|
Narrow mouth, Wide nose, Short neck, Intrauterine growth retardation, Absent radius, Oligodactyly... |
OMIM:251230 |
| Baraitser-Winter Syndrome 1 |
|
Short neck, Long philtrum, Patent ductus arteriosus, Cleft upper lip, Micropenis, Wide nasal brid... |
OMIM:243310 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Brachydactyly, Abnormal palate morphology, Abnormal mitral valve morphology, Convex nasal ridge, ... |
ORPHA:1277 |
| Trichohepatoenteric Syndrome 1 |
|
Narrow mouth, Tetralogy of Fallot, Bifid uvula, Renal cortical microcysts, Aortic regurgitation, ... |
OMIM:222470 |
| Acrocallosal Syndrome |
|
Long philtrum, Clinodactyly of the 5th finger, Tapered finger, Cleft palate, Short nose, Triangul... |
OMIM:200990 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Short chordae tendineae of the mitral valve, Congestive heart failure, Shor... |
OMIM:314400 |
| Marfan Syndrome |
|
Hammertoe, Equinus calcaneus, Micrognathia, Protrusio acetabuli, Scoliosis, Retrognathia, Mitral ... |
OMIM:154700 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Posterior cerebral artery stenosis, Aortic regurgitation, Thoracic aortic aneurysm, Patent ductus... |
OMIM:132900 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Glycosuria, Ventricular septal defect, Interrupted aortic arch, Cervical ribs, Patent foramen ova... |
OMIM:600001 |
| Cornelia De Lange Syndrome 1 |
|
Long philtrum, Proteinuria, Clinodactyly of the 5th finger, Widely spaced teeth, High, narrow pal... |
OMIM:122470 |
| Trisomy 17P |
|
Clinodactyly of the 5th finger, Hydronephrosis, Tapered finger, Micrognathia, Macroglossia, Polyc... |
ORPHA:261290 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Right aortic arch, Coarctation of aorta, Supraumbilical raphe |
OMIM:140850 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... |
OMIM:614779 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, 11 pairs of ribs, Supravalvular aortic stenosis, Chiari malformation, Pectus... |
OMIM:618624 |
| Velocardiofacial Syndrome |
|
Pierre-Robin sequence, Tetralogy of Fallot, Underdeveloped nasal alae, Velopharyngeal insufficien... |
OMIM:192430 |
| Achondrogenesis, Type Ib |
|
Neonatal short-limb short stature, Absent or minimally ossified vertebral bodies, Short ribs, Hyd... |
OMIM:600972 |
| Acromelic Frontonasal Dysostosis |
|
Broad nasal tip, Cleft upper lip, Retrocerebellar cyst, Preaxial polydactyly, U-Shaped upper lip ... |
OMIM:603671 |
| Triploidy |
|
Narrow mouth, Finger syndactyly, Short neck, Intrauterine growth retardation, Non-midline cleft l... |
ORPHA:3376 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Cervical ribs, Kyphosis, Underdeveloped nasal alae, Depressed nasal ridge, Intestinal malrotation... |
ORPHA:77300 |
| Axial Mesodermal Dysplasia Spectrum |
|
Missing ribs, Hydronephrosis, Anorectal anomaly, Abnormal rib morphology, Micrognathia, Scoliosis... |
ORPHA:1834 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Long philtrum, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Tapered finger, Scoliosis, ... |
OMIM:300998 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Cleft upper lip, Fusion of gums, Abnormal mandible morphology, Irregular dentition, Diastema, Abn... |
ORPHA:401942 |
| Mohr Syndrome |
|
Broad nasal tip, Clinodactyly of the 5th finger, Agenesis of central incisor, Syndactyly, Microgn... |
OMIM:252100 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Long philtrum, Intrauterine growth retardation, Atrial septal defect, Renal hypoplasia, Cerebella... |
ORPHA:75389 |
| Frank-Ter Haar Syndrome |
|
Broad nasal tip, Double outlet right ventricle, Micrognathia, Ventricular septal defect, Broad cl... |
OMIM:249420 |
| Nasodigitoacoustic syndrome |
|
High palate, Enlarged epiphyses, Short phalanx of finger, Thick upper lip vermilion, Broad hallux... |
OMIM:255980 |
| Charge Syndrome |
|
Dysplastic tricuspid valve, Hydronephrosis, Short thumb, Double outlet right ventricle, Abnormal ... |
OMIM:214800 |
| Genitopalatocardiac Syndrome |
|
Brachydactyly, Kyphosis, Intrauterine growth retardation, Non-midline cleft lip, Hypospadias, Wid... |
ORPHA:2075 |
| Short Stature And Facioauriculothoracic Malformations |
|
High palate, Cervical ribs, Short neck, Cleft upper lip, Pectus excavatum, Ventricular septal def... |
OMIM:609654 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Clinodactyly of the 5th finger, Hydronephrosis, Narrow nose, Micrognathia, Scoliosis, Thin upper ... |
OMIM:618454 |
| Microphthalmia, Syndromic 12 |
|
Broad nasal tip, Wide nasal bridge, Micrognathia, Ventricular septal defect, Retrognathia, Pulmon... |
OMIM:615524 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Short philtrum, Short neck, Abnormality of epiphysis morphology, Rhizom... |
ORPHA:93267 |
| Ritscher-Schinzel Syndrome 2 |
|
Clinodactyly, Short philtrum, Patent ductus arteriosus, Atrial septal defect, Cerebellar hypoplas... |
OMIM:300963 |
| Orofaciodigital Syndrome I |
|
Clinodactyly, Underdeveloped nasal alae, Proteinuria, Hamartoma of tongue, Ovarian cyst, Polycyst... |
OMIM:311200 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Coronal cleft vertebrae, Long philtrum, Prominent scalp veins, Micrognathia, Scoliosis, Hallux va... |
ORPHA:536471 |
| Esophageal Atresia |
|
Clinodactyly, Gastrointestinal dysmotility, Excessive salivation, Anorectal anomaly, Scoliosis, V... |
ORPHA:1199 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Broad nasal tip, Atrial flutter, Patent ductus arteriosus, Atrial septal defect... |
OMIM:601927 |
| Mucolipidosis Type Ii |
|
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Mitral regurgitation, Narrow ... |
ORPHA:576 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Underdeveloped nasal alae, Short thumb, High, narrow palate, Micrognathia, Chiari type I malforma... |
ORPHA:436003 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Micrognathia, Scoliosis, Hip dysplasia, Cleft palate, Hip dislocation, Long upper lip, High palat... |
ORPHA:93359 |
| Wolf-Hirschhorn Syndrome |
|
Abnormality of the vertebral column, Short thumb, Abnormal thorax morphology, Micrognathia, Scoli... |
ORPHA:280 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... |
OMIM:606217 |
| Feingold Syndrome 2 |
|
2-3 toe syndactyly, 3-4 toe syndactyly, Short thumb, Short middle phalanx of the 2nd finger, Shor... |
OMIM:614326 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Patent foramen ovale, 2-3 toe syndactyly, Long philtrum, Atrial septal defect, ... |
ORPHA:477817 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Micrognathia, Aplasia of the ulna, Renal dysplasia, Oligohydramnios, Narrow mouth, High palate, S... |
OMIM:266910 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Calcaneovalgus deformity, Aortic regurgitation, Pectus excavatum, Mitral regurgitation, Mitral va... |
OMIM:225320 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Hepatoblastoma, Total anomalous pulmonary venous return, Short ... |
OMIM:312870 |
| Mucolipidosis Iii Alpha/Beta |
|
Short long bone, Shallow acetabular fossae, Aortic regurgitation, Short ribs, Scoliosis, Short st... |
OMIM:252600 |
| Alagille Syndrome |
|
Long nose, Clinodactyly of the 5th finger, Abnormal rib morphology, Micrognathia, Telangiectasia ... |
ORPHA:52 |
| Microgastria-Limb Reduction Defects Association |
|
Absent thumb, Unilateral renal agenesis, Hypoplasia of the ulna, Cystic renal dysplasia, Hand oli... |
OMIM:156810 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Recurrent sinopulmonary infections, Anomalous pulmonary venous ret... |
ORPHA:244 |
| Distal Monosomy 10P |
|
Ectopic anus, Short neck, Intrauterine growth retardation, Polycystic ovaries, Non-midline cleft ... |
ORPHA:1580 |
| Pericardial And Diaphragmatic Defect |
|
Tetralogy of Fallot, Morphological abnormality of the gastrointestinal tract, Patent ductus arter... |
ORPHA:2847 |
| Acrorenal-Mandibular Syndrome |
|
Missing ribs, Foot polydactyly, Micrognathia, Polycystic kidney dysplasia, Narrow chest, Oligohyd... |
OMIM:200980 |
| Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Cystic renal dysplasia, Long philtrum, Clinodactyly of the 5th finger, Everted lower lip vermilio... |
OMIM:220500 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Anterior atlanto-occipital dislocation, Long philtrum, Microdontia, Micrognathia, Scoliosis, Hall... |
ORPHA:536467 |
| Tricuspid Atresia |
|
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... |
ORPHA:1209 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
High palate, Toe syndactyly, Solitary median maxillary central incisor, Patent ductus arteriosus,... |
OMIM:619657 |
| Roifman Syndrome |
|
Long philtrum, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Narrow nose, Irregular ... |
OMIM:616651 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Abnormality of the vertebral column, C... |
OMIM:601076 |
| Polydactyly, Preaxial Ii |
|
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... |
OMIM:174500 |
| Diabetic Embryopathy |
|
Abnormal sacrum morphology, Tetralogy of Fallot, Ureteral duplication, Renal hypoplasia/aplasia, ... |
ORPHA:1926 |
| Suleiman-El-Hattab Syndrome |
|
Brachydactyly, High palate, Clinodactyly, Single transverse palmar crease, Patent foramen ovale, ... |
OMIM:618950 |
| Neu-Laxova Syndrome 1 |
|
Clinodactyly, Cerebellar hypoplasia, Micrognathia, Micromelia, Dandy-Walker malformation, Spina b... |
OMIM:256520 |
| Mycophenolate Mofetil Embryopathy |
|
Ectopic kidney, Foot polydactyly, Short palm, Hydrops fetalis, Tracheoesophageal fistula, Coarcta... |
ORPHA:268249 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Lacticaciduria, Intrauterine growth retardation, Elevated urinary 4-hydroxybutyric acid, Nonimmun... |
OMIM:619003 |
| Mend Syndrome |
|
High palate, Kyphosis, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Dandy-Walker malform... |
OMIM:300960 |
| Feingold Syndrome Type 2 |
|
Brachydactyly, Toe syndactyly, Short thumb, Jejunal atresia, Short stature, Short middle phalanx ... |
ORPHA:391646 |
| Tetrasomy 9P |
|
Amelogenesis imperfecta, Bifid uvula, Missing ribs, Aplasia/Hypoplasia of the clavicles, Abnormal... |
ORPHA:3310 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
High palate, Broad nasal tip, Broad columella, Aortic regurgitation, Long philtrum, Atrial septal... |
OMIM:617402 |
| Chromosome 15Q25 Deletion Syndrome |
|
Short neck, Cleft upper lip, Tented upper lip vermilion, Dextrocardia, Growth delay, Pectus excav... |
OMIM:614294 |
| Neuraminidase Deficiency |
|
Cherry red spot of the macula, Urinary excretion of sialylated oligosaccharides, Proteinuria, Epi... |
OMIM:256550 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Pierre-Robin sequence, Broad nasal tip, Trismus, Gastroesophageal reflux, Tapered finger, Decreas... |
OMIM:254940 |
| Dysplastic Cortical Hyperostosis |
|
Abnormality of limb bone morphology, Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Polyhydram... |
ORPHA:2204 |
| 20P12.3 Microdeletion Syndrome |
|
Narrow mouth, Long philtrum, Wolff-Parkinson-White syndrome, Atrial septal defect, Wide nasal bri... |
ORPHA:261295 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Unilateral renal agenesis, Intrauterine growth retardation, Patent ductus arteriosus, Atrial sept... |
OMIM:608406 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Kyphosis, Atrial septal defect, Vascular ring, Ventricular septal defect, Pos... |
OMIM:603387 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Abnormal thumb morphology, Short palm, Severe short stature, Cone-shaped epiphysis... |
ORPHA:2511 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Thoracic pla... |
ORPHA:457395 |
| Oculodentodigital Dysplasia |
|
Clinodactyly, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Micrognathia, Ventricula... |
ORPHA:2710 |
| Orofaciodigital Syndrome Xiv |
|
Cerebellar hypoplasia, Hamartoma of tongue, Micrognathia, Dandy-Walker malformation, Ventricular ... |
OMIM:615948 |
| Complete Atrioventricular Septal Defect |
|
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... |
ORPHA:1329 |
| Viss Syndrome |
|
Bifid uvula, Carotid artery tortuosity, Hydronephrosis, Double outlet right ventricle, High, narr... |
OMIM:619472 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Glossoptosis, Ventricular septal defect |
OMIM:614876 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia, Ventricul... |
OMIM:613759 |
| Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Cleft upper lip, Short palm, Intestinal malrotation, Partial duplication of thumb phalanx, Broad ... |
OMIM:601165 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Ureteral stenosis, Nephrocalcinosis, Hypoplasia of the ulna, Renal cyst, Patent duct... |
OMIM:615398 |
| Opitz-Kaveggia Syndrome |
|
Clinodactyly, Long philtrum, Syndactyly, Micrognathia, Cleft palate, Single transverse palmar cre... |
OMIM:305450 |
| Orofaciodigital Syndrome Type 10 |
|
Long philtrum, Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Short tibia, Sho... |
ORPHA:2756 |
| Charlie M Syndrome |
|
Brachydactyly, Narrow mouth, Short philtrum, Thin vermilion border, Finger syndactyly, Non-midlin... |
ORPHA:1406 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Micrognathia, Microglossia, Asp... |
ORPHA:141152 |
| Larsen Syndrome |
|
Cervical kyphosis, Scoliosis, Ventricular septal defect, Cleft palate, Hip dislocation, Bipartite... |
OMIM:150250 |
| Ellis Van Creveld Syndrome |
|
Foot polydactyly, Microdontia, Dextrocardia, Micromelia, Ventricular septal defect, Atrioventricu... |
ORPHA:289 |
| Syndromic Diarrhea |
|
Tetralogy of Fallot, Hepatoblastoma, Aortic regurgitation, Patent ductus arteriosus, Intrauterine... |
ORPHA:84064 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, D-2-hydroxyglutaric aciduria, Micrognathia, Cardiomyopathy, Glutaric aciduria |
OMIM:600721 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Micrognathia, Bifid ribs, Scoliosis, Narrow chest, Hemivertebrae, Rib fusion, Cleft palate, Short... |
OMIM:213980 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Wide nose, Kyphosis, Mitral regurgitation, Joint contracture of the hand, Broad palm, Congenital ... |
OMIM:300280 |
| Hennekam Syndrome |
|
Retrognathia, Ascites, Narrow chest, Narrow mouth, Mild postnatal growth retardation, Pulmonary l... |
ORPHA:2136 |
| Isolated Klippel-Feil Syndrome |
|
Ectopic anus, Abnormality of the vertebral column, Abnormal sacrum morphology, Short neck, Cervic... |
ORPHA:2345 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Abnormal rib mor... |
ORPHA:1486 |
| Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy, Hydrops fetalis, Abnormality of the kidney, Coar... |
ORPHA:101028 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Hypoplastic left heart, Ventricular septal defect, Anomalous origin of left ... |
ORPHA:99050 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatoblastoma, Clinodactyly of the 5th finger, Hydronephrosis, Bundle branch block, High, narrow... |
ORPHA:373 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Brachydactyly, Abnormality of the ureter, Renal hypoplasia/aplasia, Polycystic ovaries, Non-midli... |
ORPHA:1770 |
| Opitz gbbb syndrome, type II |
|
Bifid uvula, Micrognathia, Ventricular septal defect, Dysphagia, Thin upper lip vermilion, Cleft ... |
OMIM:145410 |
| Orofaciodigital Syndrome Viii |
|
High palate, Broad nasal tip, Polydactyly, Short stature, Short tibia, Bifid nasal tip, Recurrent... |
OMIM:300484 |
| Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Clinodactyly, High palate, Diffuse mesangial sclerosis, Nephrotic syndrom... |
OMIM:616730 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Non-midline cleft lip, Anencephaly, Hypoplastic left heart, Spina bifida, Ventricul... |
ORPHA:2476 |
| Kniest-Like Dysplasia, Lethal |
|
Coronal cleft vertebrae, Hypoplastic vertebral bodies, Narrow chest, Short diaphyses, Cleft palat... |
OMIM:245190 |
| Even-Plus Syndrome |
|
High palate, Coronal cleft vertebrae, Vertebral clefting, Short neck, Patent foramen ovale, Depre... |
OMIM:616854 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hydronephrosis, Abnormal rib morphology, Micrognathia, Scoliosis, Small hand, Thin upper lip verm... |
OMIM:611209 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Tetralogy of Fallot, Hypoplasia of the ulna, Intrauterine growth retardation, Absent radius, Atri... |
OMIM:600123 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Atrial septal defect, Postaxial oligodactyly, Sh... |
ORPHA:52056 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Long philtrum, Gastrointestinal dysmotility, Macroglossia, Scoliosis... |
ORPHA:363705 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Long nose, Narrow nose, Narrow maxilla, Scoliosis, Ventricular septal defect, Short nose, High pa... |
OMIM:617602 |
| Myhre Syndrome |
|
Bifid uvula, Abnormal penis morphology, Severe short stature, Abnormal rib morphology, Hypertensi... |
ORPHA:2588 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Underdeveloped nasal alae, Double outlet right ventricle, Mitral stenosis, Ventricular septal def... |
ORPHA:163956 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Brachydactyly, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Intrauterine growth retardatio... |
ORPHA:2145 |
| Raine Syndrome |
|
Hydronephrosis, Microdontia, Micrognathia, Micromelia, Mandibular prognathia, Cleft palate, Short... |
OMIM:259775 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, High palate, Solitary median maxillary central incisor, Cleft upper lip, Hand oligo... |
OMIM:602418 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Hy... |
ORPHA:860 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Intrauterine growth retardation, Abnormal renal corticomedullary differentiation, Oligohydramnios... |
OMIM:616733 |
| Hutchinson-Gilford Progeria Syndrome |
|
Left ventricular systolic dysfunction, Abnormal mitral valve morphology, Abnormal aortic valve mo... |
ORPHA:740 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Intestinal lymphangiectasia, Hydronephrosis, Rectal prolapse, Thyroid lymphangiectasia, Hypoplast... |
OMIM:235510 |
| Microphthalmia With Limb Anomalies |
|
Fibular hypoplasia, Sandal gap, Retrognathia, Cleft palate, Short nose, Hip dislocation, High pal... |
OMIM:206920 |
| Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
Clinodactyly, Long philtrum, Hydronephrosis, Tapered finger, Tented upper lip vermilion, Hand cle... |
OMIM:618975 |
| Absence Of The Pulmonary Artery |
|
Atrial fibrillation, Pedal edema, Cardiomegaly, Pulmonary edema, Recurrent pneumonia, Patent fora... |
ORPHA:980 |
| Lujan-Fryns Syndrome |
|
Brachydactyly, High palate, Short philtrum, Abnormality of the dentition, Atrial septal defect, M... |
ORPHA:776 |
| Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Narrow mouth, Short philtrum, Bifid ureter, Aortic regurgitation, Ureteral duplication, Atrial se... |
OMIM:601347 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hydronephrosis, High, narrow palate, Macroglossia, Micrognathia, Ulnar deviation of the hand or o... |
OMIM:214100 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Cerebellar hypoplasia, Clinodactyly of the 5th finger, Scoliosis, Partial absence of cerebellar v... |
ORPHA:329224 |
| Trisomy 18 |
|
Abnormal hip bone morphology, Hydronephrosis, Abnormal rib morphology, Spina bifida, Ventricular ... |
ORPHA:3380 |
| Kabuki Syndrome 2 |
|
Broad nasal tip, Micrognathia, Atrioventricular canal defect, Cleft palate, Hip dislocation, Brac... |
OMIM:300867 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect |
OMIM:607941 |
| Metatropic Dysplasia |
|
Kyphosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the lungs, Severe short st... |
ORPHA:2635 |
| Fetal Parvovirus Syndrome |
|
Intrauterine growth retardation, Hydrops fetalis, Hypertrophic cardiomyopathy, Increased nuchal t... |
ORPHA:295 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Clinodactyly, Hydronephrosis, Everted lower lip vermilion, Tented upper lip vermilion, Exaggerate... |
ORPHA:464738 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Brachydactyly, High palate, Broad alveolar ridges, Delayed eruption of teeth, Patent ductus arter... |
ORPHA:2863 |
| Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Preaxial hand polydactyly, Cleft upper lip, Cleft palate |
OMIM:601420 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... |
ORPHA:216694 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Brachydactyly, Bifid uvula, Short neck, Intrauterine growth retardation, Patent ductus arteriosus... |
OMIM:612938 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the vertebral column, Abnormal ilium morphology, Severe short stature, Disproporti... |
ORPHA:93316 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Hydrops fetalis, Single umbilical artery, Polyhydramnios, In... |
ORPHA:3405 |
| Lethal Faciocardiomelic Dysplasia |
|
Narrow mouth, Hypoplasia of the ulna, Intrauterine growth retardation, Patent ductus arteriosus, ... |
ORPHA:1972 |
| Kleefstra Syndrome |
|
Hydronephrosis, Everted lower lip vermilion, Tented upper lip vermilion, Exaggerated cupid's bow,... |
ORPHA:261494 |
| Fontaine Progeroid Syndrome |
|
Long philtrum, Cerebellar hypoplasia, Everted lower lip vermilion, Microdontia, High, narrow pala... |
OMIM:612289 |
| Restrictive Dermopathy 1 |
|
Premature rupture of membranes, Micrognathia, Narrow mouth, Intrauterine growth retardation, Pate... |
OMIM:275210 |
| Fetal Trimethadione Syndrome |
|
High palate, Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Microgna... |
ORPHA:1913 |
| Hyperphosphatasia With Mental Retardation Syndrome 1 |
|
Short philtrum, Broad nasal tip, Delayed ossification of carpal bones, Cleft upper lip, Tapered f... |
OMIM:239300 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Long philtrum, Overhanging nasal tip, Hydronephrosis, High, narrow palate, Scoliosis, Dysphagia, ... |
OMIM:618494 |
| Alpha-Mannosidosis, Infantile Form |
|
Widely spaced teeth, Macroglossia, Recurrent urinary tract infections, Mandibular prognathia, Mit... |
ORPHA:309282 |
| Distal Monosomy 7Q36 |
|
Symphalangism affecting the phalanges of the hand, Short neck, Bulbous nose, Non-midline cleft li... |
ORPHA:1636 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Intrauterine growth retardation, Sandal gap, Clinodactyly of the 5th fing... |
ORPHA:2515 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Disproportionate short stat... |
OMIM:611702 |
| Jeune Syndrome |
|
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... |
ORPHA:474 |
| Acitretin/Etretinate Embryopathy |
|
High palate, Hypoplastic nasal septum, Anteverted nares, Median cleft palate, Conotruncal defect,... |
ORPHA:40366 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Bifid uvula, Long philtrum, Micrognathia, Scoliosis, Ventricular septal defect, Thin upper lip ve... |
ORPHA:404440 |
| Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Multicystic kidney dysplasia, Dandy-Walker malformation, Renal dysplasia,... |
ORPHA:3032 |
| Craniofacial Microsomia |
|
Block vertebrae, Vertebral hypoplasia, Maxillozygomatic hypoplasia, Micrognathia, Multicystic kid... |
OMIM:164210 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Clinodactyly, Short philtrum, Aortic regurgitation, Proteinuria, Pulmonary hemorrhage, Aminoaciduria |
OMIM:603585 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Growth delay, Abnormal heart morphology, Short stature, Recurrent respirato... |
OMIM:617744 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Narrow mouth, Abnormal localization of kidney, Depressed nasal bridge, Postaxial hand polydactyly... |
ORPHA:83473 |
| Achondrogenesis, Type Ia |
|
Hypoplastic ischia, Short neck, Short ribs, Hydrops fetalis, Hypoplastic scapulae, Hypoplasia of ... |
OMIM:200600 |
| Aortic Arch Interruption |
|
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... |
ORPHA:2299 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Bulbous nose, Atrial septal defect, Tapered finger, Short phalanx of finger, Pectus excavatum, Lo... |
OMIM:613458 |
| Trisomy 4P |
|
Abnormal palate morphology, Short neck, Abnormality of the dentition, Radial club hand, Carious t... |
ORPHA:1738 |
| Tetralogy Of Fallot |
|
Brachydactyly, Tetralogy of Fallot, Intrauterine growth retardation, Clinodactyly of the 5th fing... |
ORPHA:3303 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis, Aortic regurgitation, Intrauterine growth retardation, Adducted thumb,... |
OMIM:616603 |
| Yunis-Varon Syndrome |
|
Clinodactyly, Absent sternal ossification, Absent middle phalanx of 2nd finger, Aplasia/Hypoplasi... |
OMIM:216340 |
| Tetrasomy 5P |
|
High palate, Short neck, Long philtrum, Congestive heart failure, Cerebellar hypoplasia, Clinodac... |
ORPHA:3309 |
| Microphthalmia With Limb Anomalies |
|
Abnormal thumb morphology, Long philtrum, Hypoplasia of the premaxilla, Fibular hypoplasia, Sanda... |
ORPHA:1106 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Horseshoe kidney, Bulbous nose, Unilateral cleft palate, Unilateral cleft lip... |
OMIM:619103 |
| Mgat2-Cdg |
|
Brachydactyly, Kyphosis, Patent ductus arteriosus, Arrhythmia, Hydrops fetalis, Gastroesophageal ... |
ORPHA:79329 |
| Zechi-Ceide Syndrome |
|
Cleft upper lip, Underdeveloped nasal alae, Sandal gap, Oligodontia, Wide nasal bridge, Short dis... |
OMIM:612916 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Abnormal thumb morphology, Short neck, Abnormality of epiphysis morphology, Patent ductus arterio... |
ORPHA:1842 |
| Brachydactyly, Type B1 |
|
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... |
OMIM:113000 |
| 20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Thin vermilion border, Sacral dimple, Abnormality of limb bone morphology, Bulbous ... |
ORPHA:261311 |
| Marden-Walker Syndrome |
|
Abnormal anatomic location of the heart, Bifid uvula, Abnormal penis morphology, Severe short sta... |
ORPHA:2461 |
| Fetal Akinesia Deformation Sequence |
|
Absent palmar crease, Intrauterine growth retardation, Intestinal hypoplasia, Micrognathia, Dandy... |
ORPHA:994 |
| Focal Dermal Hypoplasia |
|
Upper limb asymmetry, Open bite, Hydronephrosis, Telangiectasia of the skin, Multicystic kidney d... |
ORPHA:2092 |
| Mental Retardation, Buenos Aires Type |
|
High palate, Atrial septal defect, Clinodactyly of the 5th finger, Carious teeth, Wide nasal brid... |
OMIM:249630 |
| Coffin-Siris Syndrome 5 |
|
Short philtrum, Intrauterine growth retardation, Atrial septal defect, Sandal gap, Cerebellar hyp... |
OMIM:616938 |
| Martsolf Syndrome 1 |
|
