| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... |
ORPHA:294975 |
| Genitopalatocardiac Syndrome |
|
Cleft upper lip, Double outlet right ventricle, Cleft palate, Hypospadias, Ventricular septal def... |
OMIM:231060 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... |
OMIM:217095 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Aortic valve stenosis, Talipes equinovarus, Pulmonic stenosis, Femoral bowing, Cyst... |
OMIM:615415 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Microphthalmia With Limb Anomalies |
|
High palate, Hydrocephalus, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the uppe... |
ORPHA:1106 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
| Thymic Aplasia With Fetal Death |
|
Renal agenesis, Pulmonary hypoplasia, Ureteral agenesis, Truncus arteriosus |
OMIM:274210 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,... |
OMIM:612474 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Renal hypoplasia/aplasia, High, narrow palate, Cleft palate, Rena... |
ORPHA:2516 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Cleft palate, Unilateral renal agenesis, Ventricular septal defec... |
OMIM:601355 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Long philtrum, Brachydactyl... |
ORPHA:401935 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Syndactyly, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Renal cyst, Renal hypop... |
OMIM:228940 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Microphthalmia, Micrognathia, Short philtrum, Platysp... |
ORPHA:93267 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Syndactyly, Brachydactyly, Ventricular septal defect, Renal hypoplasia, Hepatic fib... |
OMIM:616589 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Abnormal h... |
ORPHA:228190 |
| Frontonasal Dysplasia 1 |
|
Low-set ears, Conductive hearing impairment, Median cleft palate, Joint contracture of the hand, ... |
OMIM:136760 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Bicuspid aortic valve, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta,... |
OMIM:604381 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Basal Cell Nevus Syndrome |
|
Hydrocephalus, Cleft palate, Hemivertebrae, Down-sloping shoulders, Microphthalmia, Mandibular pr... |
OMIM:109400 |
| Achondrogenesis Type 1B |
|
Narrow chest, Talipes equinovarus, Severe short stature, Thickened nuchal skin fold, Micrognathia... |
ORPHA:93298 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
High palate, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
| Aarskog-Scott Syndrome |
|
Pectus excavatum, Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of tee... |
ORPHA:915 |
| Achondrogenesis Type 1A |
|
Narrow chest, Recurrent fractures, Severe short stature, Multiple rib fractures, Thickened nuchal... |
ORPHA:93299 |
| Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Anal atresia, Ectopic anus, Cleft palate, Abno... |
ORPHA:2345 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Hydrocephalus, Abnormal cardiac septum morphology, Anal atresia, Na... |
ORPHA:2166 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Carpenter Syndrome 1 |
|
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, S... |
OMIM:201000 |
| Hypoglossia With Situs Inversus |
|
High palate, Narrow mouth, Hypodontia, Situs inversus totalis, Microglossia, Polysplenia, Asplenia |
OMIM:612776 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Osteopenia, Platyspondyly, Short neck, Ventricular septal defect, Pulmonary hypopla... |
OMIM:616897 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Heterotaxy, Intestinal malrotation, Atr... |
OMIM:616749 |
| Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Cleft palate, Abnormally ossified vertebrae, Sclerotic scapulae,... |
ORPHA:166119 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Hypopla... |
OMIM:213980 |
| Achondrogenesis |
|
Narrow chest, Severe short stature, Inguinal hernia, Thickened nuchal skin fold, Micrognathia, Sh... |
ORPHA:932 |
| Kagami-Ogata Syndrome |
|
Ventricular septal defect, Hypoplasia of the maxilla, Pulmonary hypoplasia, Omphalocele, Diastasi... |
OMIM:608149 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate |
OMIM:611867 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
High palate, Osteopenia, Short neck, Hammertoe, Ventral hernia, Umbilical hernia, Cervical C2/C3 ... |
OMIM:618000 |
| Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Short metacarpal, Horizontal sacrum, Barrel-shaped chest, P... |
OMIM:215140 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Asplenia, Heterotaxy |
OMIM:601086 |
| Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... |
OMIM:305620 |
| Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Cleft palate, Platyspondyly, Short neck, Rhizomelia, Omphalocele, Post... |
OMIM:228520 |
| Trisomy 13 |
|
Abnormal antihelix morphology, Abnormal helix morphology, Cleft palate, Abnormality of the dentit... |
ORPHA:3378 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Cleft palate, Micrognathia, Macrotia, Anophthalmia, Dextrocardia, ... |
OMIM:221950 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Down-slopin... |
OMIM:265000 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing,... |
OMIM:108720 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Pectus excavatum, Attached earlobe, Pectus carinatum, Mandibular prognathia, Delayed... |
ORPHA:1327 |
| Triploidy |
|
Narrow chest, Abnormal cardiac septum morphology, Hydrocephalus, Wide mouth, Narrow mouth, Aplasi... |
ORPHA:3376 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrocephalus, Cleft palate, Short neck, Micromelia, Anisospondyly, Pulmonary hypoplasia, Pterygi... |
ORPHA:1865 |
| Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Absent thumb, Hand oligodactyly, Intest... |
OMIM:156810 |
| Melnick-Needles Syndrome |
|
Abnormal cardiac septum morphology, Cone-shaped epiphyses of the phalanges of the hand, Abnormali... |
ORPHA:2484 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Short neck, Pulmonary hypoplasia, Omphalocele, Short long bone, Abnormal heart morphology, Flexio... |
OMIM:263210 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Metaphyseal dysplasia, Short stature, Thin vermilion border, Flared meta... |
OMIM:156510 |
| Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Abnormal pinna morphology, Cleft palate, Pulmo... |
ORPHA:90652 |
| Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... |
ORPHA:93323 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sensorineural hearing impairment, Slender long bones with narrow diaphyses, Abnormal rib cage mor... |
OMIM:608154 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Lethal Congenital Contracture Syndrome 10 |
|
High palate, Short neck, Ventricular septal defect, Pulmonary hypoplasia, Broad ribs, Omphalocele... |
OMIM:617022 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Boomerang Dysplasia |
|
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... |
ORPHA:1263 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... |
OMIM:619702 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... |
OMIM:208540 |
| Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... |
OMIM:618300 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
| Lujan-Fryns Syndrome |
|
High palate, Protruding ear, Pectus excavatum, Atrial septal defect, Arachnodactyly, Micrognathia... |
ORPHA:776 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Hydrocephalus, Pectus excavatum, Abnormal pinna morphology, Craniosynostosis, Osteop... |
OMIM:182212 |
| Achondrogenesis, Type Ib |
|
Narrow chest, Neonatal short-limb short stature, Malar flattening, Short ribs, Inguinal hernia, H... |
OMIM:600972 |
| Trisomy 1Q |
|
Hydrocephalus, Cleft palate, Ventricular septal defect, Omphalocele, Abnormality of the outer ear... |
ORPHA:261344 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Congenital... |
OMIM:306955 |
| Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Craniosynostosis, Cleft palate, Limitation of knee mobility, Si... |
ORPHA:1826 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
| 20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Narrow mouth, Atrial septal defect, Malar flattening, Short statu... |
ORPHA:261295 |
| Martsolf Syndrome 1 |
|
High palate, Pectus excavatum, Finger joint hypermobility, Short philtrum, Pectus carinatum, Broa... |
OMIM:212720 |
| Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Narrow chest, Narrow mouth, Talipes equinovarus, Cleft palate, Craniosynosto... |
OMIM:251230 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Abnormal heart morphology, Anomalous pulmonary venous return, Inte... |
ORPHA:244 |
| Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing... |
OMIM:304120 |
| Mosaic Trisomy 9 |
|
High palate, Cleft palate, Hemivertebrae, Short neck, Micromelia, Finger clinodactyly, Ventricula... |
ORPHA:99776 |
| Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
High palate, Overlapping toe, Wide anterior fontanel, Narrow mouth, Talipes equinovarus, Short st... |
OMIM:201170 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Short sta... |
ORPHA:2522 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft palate, Heterotaxy, In... |
ORPHA:3426 |
| Acrocardiofacial Syndrome |
|
Cleft upper lip, Anal atresia, Mitral stenosis, Atrial septal defect, Finger syndactyly, Cleft pa... |
ORPHA:2008 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, ... |
OMIM:601186 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Accelerated skeletal maturation, Malar flattening, Short r... |
OMIM:215045 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Ventricular septal defect, Hypoplasia of the maxilla, Proportionate short stat... |
ORPHA:79345 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Abnormal pinna morphology, Short neck, Anencephaly, Lobulated tongue, Ventricular ... |
OMIM:269860 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Patellar disloc... |
ORPHA:3320 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Overlapping toe, Atrial septal defect, Tetralogy of Fallot, Ventricular septal... |
OMIM:617478 |
| Neurofaciodigitorenal Syndrome |
|
Hypoplasia of the premaxilla, Low-set ears, Pectus excavatum, Short stature, External ear malform... |
ORPHA:2673 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
| Mohr Syndrome |
|
High palate, Hydrocephalus, Pectus excavatum, Cleft palate, Lobulated tongue, Tongue nodules, Hyp... |
OMIM:252100 |
| Holzgreve Syndrome |
|
Cleft upper lip, Hypoplastic left heart, Cleft palate, Renal agenesis, Renal hypoplasia, Hand pol... |
OMIM:236110 |
| Oculodentodigital Dysplasia |
|
Abnormality of the ear, Abnormal clavicle morphology, Cleft palate, Carious teeth, Ventricular se... |
ORPHA:2710 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Hydrocephalus, Prominent fingertip pads, Sandal gap, Anteriorly placed anus, Intraut... |
OMIM:612863 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sensorineural hearing impairment, Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis,... |
OMIM:144750 |
| Shprintzen-Goldberg Syndrome |
|
Pectus excavatum, Craniosynostosis, Osteopenia, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:2462 |
| Cohen Syndrome |
|
Pectus excavatum, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum,... |
ORPHA:193 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Anomalous pulmonary venous return, Abnormal helix morphology, Atrioventricular canal defect, Vert... |
ORPHA:1120 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, High palate, Flexion contracture, Short stature, Everted lower l... |
OMIM:616549 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Pectus excavatum, Atrioventricular canal defect, Short neck, Hypermobility of inte... |
ORPHA:508498 |
| Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Cleft palate, Atrioventricular canal defect, Pulmonic stenosis, B... |
OMIM:619123 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly... |
OMIM:604922 |
| Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Absent proximal finger flexion creases, T... |
ORPHA:2839 |
| Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Hemivert... |
ORPHA:96334 |
| Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Cleft upper lip, Butterfly vertebrae, Hiatus hernia, Lipoma, Postnatal gr... |
OMIM:304050 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Anal atresia, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal def... |
ORPHA:210122 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:270100 |
| Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Limited pronation/supination of forearm, Cleft palate, Craniofa... |
ORPHA:1724 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Renal hypoplasia/aplasia, Cleft palate, Abnormality of lower lip, Abnormal hip bo... |
ORPHA:1166 |
| Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Abnormal cardiac septum morphology, Abnormality of the dentition, Ven... |
ORPHA:2092 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Cleft pala... |
OMIM:274000 |
| Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Cleft palate, Platyspondyly, Short neck, Dispropo... |
ORPHA:485 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Abnormality of the kidney, Renal cyst, Polydactyly |
OMIM:615987 |
| Stickler Syndrome Type 1 |
|
Sensorineural hearing impairment, Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abn... |
ORPHA:90653 |
| Coffin-Lowry Syndrome |
|
High palate, Abnormal mitral valve morphology, Wide mouth, Pectus excavatum, Broad finger, Delaye... |
ORPHA:192 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Gingival overgrowth, Triangular mouth, Short stature, Micrognathia, Abnorm... |
OMIM:618529 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 finger syndactyly, Coarctation of aorta, Hamartoma of tongue, Postaxial hand polydactyly, Bro... |
OMIM:217085 |
| Mosaic Trisomy 1 |
|
Wide mouth, Abnormal pinna morphology, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, ... |
ORPHA:1692 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal cardiac septum morphology, Narrow mouth, Malar flattening, Prominence of the premaxilla,... |
ORPHA:2412 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Abnormal mitral valve morphology, Atrial septal defect, Accelerated skele... |
ORPHA:1354 |
| Schneckenbecken Dysplasia |
|
Cleft palate, Platyspondyly, Short neck, Nonimmune hydrops fetalis, Ovoid vertebral bodies, Umbil... |
OMIM:269250 |
| Holoprosencephaly 9 |
|
Hydrocephalus, Cleft palate, Short philtrum, Underdeveloped tragus, Hypoplasia of the maxilla, So... |
OMIM:610829 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Wrist pain, Metatarsal osteolysis, ... |
OMIM:166300 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Abnormality of the dentition, Scoliosis, Pectus ca... |
ORPHA:3268 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Cleft upper lip, Conductive hearing impairment... |
OMIM:214300 |
| Dental Anomalies And Short Stature |
|
Narrow vertebral interpedicular distance, Short stature, Oligodontia, Platyspondyly, Microdontia,... |
OMIM:601216 |
| Czeizel-Losonci Syndrome |
|
High palate, Hydrocephalus, Tracheoesophageal fistula, 2-3 finger syndactyly, Single transverse p... |
ORPHA:2437 |
| Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Macrodontia of permanent maxillary central incisor, Hig... |
OMIM:216550 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... |
ORPHA:3384 |
| Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Pectus carinatum,... |
OMIM:253220 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Accessory oral frenulum, Conductive hearing impairm... |
ORPHA:79113 |
| Osteopathia Striata With Cranial Sclerosis |
|
High palate, Hydrocephalus, Pectus excavatum, Cleft palate, Overfolded helix, Ventricular septal ... |
OMIM:300373 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Dental malocclusion, Dental crowding, Hypodontia, Short stature, Pericardial... |
OMIM:253250 |
| Pallister-Hall Syndrome |
|
Cleft palate, Hemivertebrae, Ventricular septal defect, Y-shaped metacarpals, Anteriorly placed a... |
OMIM:146510 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Sensorineural hearing impairment, Narrow mouth, Conductive hearing impairment, Micro... |
ORPHA:1307 |
| Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Malar flattening, Cleft pala... |
OMIM:108721 |
| Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Single transverse palmar crease, Sandal gap, Microphthalmia, Cleft upp... |
OMIM:206920 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Talipes equinovarus, Joint contracture of the hand, Inguinal hernia, Small thenar eminence, Derma... |
OMIM:211960 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Short philtrum, Micromelia, Radioulnar synostosis, Hypoplasia of the ul... |
ORPHA:3258 |
| Otopalatodigital Syndrome, Type I |
|
Pectus excavatum, Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure o... |
OMIM:311300 |
| Pycnodysostosis |
|
High palate, Abnormal clavicle morphology, Abnormality of the dentition, Carious teeth, Rhizomeli... |
ORPHA:763 |
| Myhre Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Platyspondyly, Abnormality of the pubic bone, A... |
ORPHA:2588 |
| Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Delayed eruption of teeth, C1-C2 subluxation, Thin bony cortex, Thin metacarpal corti... |
OMIM:259600 |
| Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Accelerated skeletal maturation, Cone-shaped epiphysis, Short philtrum, Upper limb... |
ORPHA:439822 |
| Melnick-Needles Syndrome |
|
Tricuspid valve prolapse, Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, C... |
OMIM:309350 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid valve prolapse, Abnormality of the ear, Pectus excavatum, Talipes equinovarus, Tricuspi... |
ORPHA:1101 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hiatus hernia, Hepatomegaly, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kid... |
ORPHA:2538 |
| Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Th... |
OMIM:312150 |
| Infantile Sialic Acid Storage Disease |
|
High palate, Metaphyseal irregularity, Hydrocephalus, Gingival overgrowth, Osteopenia, Hydrops fe... |
OMIM:269920 |
| Aarskog-Scott Syndrome |
|
Pectus excavatum, Cleft palate, Short neck, Single transverse palmar crease, Hypoplasia of the ma... |
OMIM:305400 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... |
ORPHA:370010 |
| Distal Trisomy 15Q |
|
High palate, Joint stiffness, Anal atresia, Pectus excavatum, Arachnodactyly, Micrognathia, Campt... |
ORPHA:1707 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Postaxial hand polydactyly, Renal cyst, Preaxial foot polydactyly, Bilateral triphalangeal thumbs |
OMIM:138790 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Rhizomelia, Pulmonary hypoplasia, Omphalocele... |
OMIM:616300 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Postaxial polydactyly, Atrioventricular canal defect, Short philtrum, Di... |
OMIM:619142 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
|
Growth delay, Wide mouth, Clinodactyly of the 5th finger, Secundum atrial septal defect, Retrogna... |
OMIM:619758 |
| Turnpenny-Fry Syndrome |
|
Tricuspid valve prolapse, High palate, Pectus excavatum, Short sternum, Abnormality of the dentit... |
OMIM:618371 |
| Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Vertebral clefting, Open bite, Scol... |
ORPHA:1248 |
| Lowry-Maclean Syndrome |
|
Hydrocephalus, Cleft palate, Craniosynostosis, Atrioventricular canal defect, Osteopenia, Single ... |
ORPHA:2409 |
| Distal Trisomy 14Q |
|
Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology, Abn... |
ORPHA:1705 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| Emanuel Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft palate, Recurrent r... |
OMIM:609029 |
| Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Cleft upper lip, Butterfly vertebrae, Hiatus hernia, Malabsorption, Cleft... |
ORPHA:50 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch, Bronchiectasis |
OMIM:617577 |
| Trisomy 18 |
|
Cleft palate, Anencephaly, Abnormality of the upper limb, Ventricular septal defect, Omphalocele,... |
ORPHA:3380 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Abnormality of the hand, Abnormality of the... |
ORPHA:521308 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Nonimmune hydrops fetalis... |
OMIM:265380 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Cleft palate, Bidirectional ventricular ectopy, Small finger, Hypoplasia of the maxi... |
OMIM:170390 |
| Renal Tubular Dysgenesis |
|
Bilateral single transverse palmar creases, Nephropathy, Multiple renal cysts, Tetralogy of Fallo... |
ORPHA:3033 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal palate morphology, Conductive hearing impairment, Hydrocephalus, Malar flattening, Brach... |
ORPHA:93262 |
| Weill-Marchesani Syndrome 2 |
|
High palate, Thin bony cortex, Ventricular septal defect, Hypoplasia of the maxilla, Broad ribs, ... |
OMIM:608328 |
| Meier-Gorlin Syndrome 1 |
|
High palate, Cleft palate, Absent glenoid fossa, Hemivertebrae, Birth length less than 3rd percen... |
OMIM:224690 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, High palate, Hydrocephalus, Cleft palate, Femoral bowing, Sho... |
OMIM:114290 |
| C Syndrome |
|
High palate, Wide mouth, Micromelia, Ulnar deviation of finger, Ventricular septal defect, Omphal... |
OMIM:211750 |
| Distal Monosomy 19P13.3 |
|
Tricuspid valve prolapse, Pulmonary valve atresia, Sensorineural hearing impairment, Conductive h... |
ORPHA:96129 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
| Apert Syndrome |
|
Hydrocephalus, Cleft palate, Craniosynostosis, Cutaneous syndactyly, Delayed eruption of teeth, R... |
OMIM:101200 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Cutaneous finger synda... |
OMIM:113000 |
| Vacterl/Vater Association |
|
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Anencephaly, Omphalo... |
ORPHA:887 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Tracheoesophageal fistula, Short neck, Omphalocele, Vertebral segmentation defect,... |
ORPHA:1834 |
| Subaortic Stenosis--Short Stature Syndrome |
|
Pectus excavatum, Membranous subvalvular aortic stenosis, Barrel-shaped chest, Short neck, Broad ... |
OMIM:271960 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Hydrocephalus, Cleft palate, Atrioventricular canal defect, Hem... |
ORPHA:7 |
| Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Abnormal bone structure, Abnormal epiphysis morph... |
ORPHA:1306 |
| Thomas Syndrome |
|
Cleft upper lip, Renal hypoplasia/aplasia, Hypoplastic left heart, Cleft palate, Multicystic kidn... |
ORPHA:3316 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Sprengel anomaly, Duodenal atresia, Butterfly vertebrae, Pectus excavatum, Muscular ventricular s... |
OMIM:619227 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
High palate, Hydrocephalus, 11 pairs of ribs, Ventricular septal defect, Delayed closure of the a... |
OMIM:607872 |
| Chromosome 9P Deletion Syndrome |
|
High palate, Clinodactyly of the 4th toe, Short neck, Tapered finger, Heart murmur, Ventricular s... |
OMIM:158170 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Ventricular septal defect, Hypoplasia of the maxilla, Broad ribs, Proportionate... |
OMIM:277600 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Aqueductal stenosis, Abnormally ossified vertebrae, Intestinal malr... |
ORPHA:3035 |
| Lateral Meningocele Syndrome |
|
High palate, Pectus excavatum, Short neck, Biconcave vertebral bodies, Umbilical hernia, Abnormal... |
OMIM:130720 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Protruding ear, Talipes equinovarus, Short stature, Camptodactyly of finger, Tapered... |
ORPHA:85279 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Thin ribs, Cleft pa... |
OMIM:253290 |
| Hydrolethalus |
|
Hydrocephalus, Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Anencephaly, Arrhinencep... |
ORPHA:2189 |
| Platyspondylic Dysplasia, Torrance Type |
|
Cleft palate, Platyspondyly, Micromelia, Hypoplasia of the capital femoral epiphysis, Hypoplastic... |
ORPHA:85166 |
| Marshall-Smith Syndrome |
|
High palate, Hydrocephalus, Pectus excavatum, Short sternum, Accelerated skeletal maturation, Sle... |
OMIM:602535 |
| Sialidosis Type 2 |
|
Kyphosis, Flexion contracture, Inguinal hernia, Short stature, Hydrops fetalis, Osteoporosis, Pec... |
ORPHA:87876 |
| Van Maldergem Syndrome 1 |
|
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver... |
OMIM:601390 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short distal phalanx of finger, Narrow chest, Abnormal bone ossification, Postnatal growth retard... |
ORPHA:73230 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
| Van Maldergem Syndrome 2 |
|
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver... |
OMIM:615546 |
| Fountain Syndrome |
|
Wide mouth, Pectus excavatum, Facial edema, Thick lower lip vermilion, Short distal phalanx of fi... |
ORPHA:3219 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Intrauterine growth retardation, Flexion contracture, Thin vermilion border, Micrognathia, Nonimm... |
OMIM:608540 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Narrow chest, Kyphosis, High palate, Pectus excavatum, Scoliosis, Pectus carinatum, Long palm, Hy... |
OMIM:300676 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Flexion contracture of finger, Pectus excavatum, Prominent sternum, Single transverse palmar crea... |
ORPHA:254528 |
| Gm1 Gangliosidosis |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Platyspondyly, Ventricular septal defect, A... |
ORPHA:354 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Right ventricular hypertrophy... |
OMIM:614261 |
| Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Macroti... |
OMIM:610828 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Narrow mouth, Abnormal pinna morphology, Microretrognathia, Cleft palate, Camptodact... |
OMIM:246560 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Meckel Syndrome, Type 1 |
|
Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the ureter, Hypoplas... |
OMIM:249000 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Retrognathia, Micrognathia, Anophthalmia, Hypoplastic left atriu... |
OMIM:615524 |
| Pseudodiastrophic Dysplasia |
|
Talipes equinovarus, Malar flattening, Platyspondyly, Scoliosis, Phalangeal dislocation, Rhizomel... |
ORPHA:85174 |
| Van Den Ende-Gupta Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Overfolded helix, Femoral bowing, ... |
OMIM:600920 |
| Acalvaria |
|
Hydrocephalus, Cleft palate, Holoprosencephaly, Abnormal lung lobation, Postaxial hand polydactyl... |
ORPHA:945 |
| Asymmetric Short Stature Syndrome |
|
Dental crowding, Micrognathia, Lumbar scoliosis, Fused cervical vertebrae, Asymmetric short statu... |
OMIM:108450 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Low-set ears, Talipes equinovarus, Cleft palate, Short neck, Anophthalmia, Polyd... |
OMIM:613885 |
| Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Cleft palate, Overfolded helix, Micromelia, Symphalangism affecting... |
ORPHA:628 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Accelerated skeletal maturation, Cleft palate, Carious teeth, Genu valgum, Small epi... |
OMIM:618363 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the dentition, Abnormality of the kidney, Syndactyly, Brachydactyly, Polydactyly, ... |
OMIM:615982 |
| Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Wide mouth, Prominent sternum, Anterior beakin... |
OMIM:253000 |
| Dysostosis, Stanescu Type |
|
Pectus excavatum, Abnormality of the dentition, Short neck, Micromelia, Carious teeth, Abnormal e... |
ORPHA:1798 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Triphalangeal thumb, Preaxial foot polydactyly, Multicystic kidney dy... |
ORPHA:2091 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Short ribs, Hypoplastic ilia, Micr... |
OMIM:617895 |
| Myhre Syndrome |
|
Cleft palate, Cone-shaped epiphysis, Platyspondyly, Short neck, Birth length less than 3rd percen... |
OMIM:139210 |
| Cerebrofaciothoracic Dysplasia |
|
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Wide mouth... |
ORPHA:1394 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Hydrocephalus With Associated Malformations |
|
Hydrocephalus, Tibial bowing, Intestinal malrotation, Micrognathia, Short lower limbs, Pulmonary ... |
OMIM:236640 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, 2-3 toe syndactyly, Flexion contracture, Scoliosis, Tapered finger, Long fingers, Hy... |
OMIM:218000 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Delayed epiphyseal ossification, Abnormal sternum morphology, Epiphyseal ... |
ORPHA:166016 |
| Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Micropenis, Partial duplication of thumb phalanx, Short middle phalanx of th... |
OMIM:617926 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts, Abnormality of the liver |
DECIPHER:47 |
| Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Dispro... |
OMIM:200600 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturatio... |
OMIM:101800 |
| Acrodysostosis |
|
Accelerated skeletal maturation, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Del... |
ORPHA:950 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Short femur, Holoprosencephaly, Scoliosis, Anterior encephalocele, Ventricular s... |
OMIM:601357 |
| Stankiewicz-Isidor Syndrome |
|
2-3 toe syndactyly, Absent thumb, Micropenis, Hypospadias, Ureteral duplication, Short thumb, Ven... |
OMIM:617516 |
| Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Sandal... |
OMIM:607323 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Coarctation of aorta |
OMIM:140850 |
| Distal Xq28 Microduplication Syndrome |
|
High palate, Predominantly lower limb lymphedema, Short stature, Upper eyelid edema, Open mouth, ... |
ORPHA:293939 |
| Multiple Synostoses Syndrome 3 |
|
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... |
OMIM:612961 |
| Endosteal Hyperostosis, Worth Type |
|
Sensorineural hearing impairment, Torus palatinus, Clavicular sclerosis, Abnormal form of the ver... |
ORPHA:2790 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
High palate, Tricuspid stenosis, Barrel-shaped chest, Short neck, Delayed eruption of teeth, Hypo... |
OMIM:143095 |
| Vacterl With Hydrocephalus |
|
Hydrocephalus, Hypoplasia of the radius, Hemivertebrae, Tracheoesophageal fistula, Anotia, Pulmon... |
ORPHA:3412 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Nephritis, Cervical lymphadenopathy, Hematuria, H... |
OMIM:614034 |
| Frontorhiny |
|
Lumbar hyperlordosis, Basal encephalocele, Congenital conductive hearing impairment, Cleft palate... |
ORPHA:391474 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Cleft upper lip, Hydrocephalus, 2-3 toe syndactyly, Atrial septal defect, Anal... |
OMIM:264480 |
| Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Narrow mouth, Camptodactyly of finger, Ulnar deviation of the w... |
ORPHA:1529 |
| Metatropic Dysplasia |
|
Hydrocephalus, Halberd-shaped pelvis, Cleft palate, Micromelia, Long thorax, Abnormal metaphysis ... |
ORPHA:2635 |
| Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... |
ORPHA:1540 |
| Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Wide mouth, Prominent sternum, Platyspondyly, ... |
OMIM:253010 |
| Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Kyphosis, Posterior rib gap, Clinodactyly of the 5th finger, Conductive hearing... |
ORPHA:1393 |
| Premature Aging Syndrome, Penttinen Type |
|
Sensorineural hearing impairment, Lipoatrophy, Thin vermilion border, Osteopenia, Delayed cranial... |
OMIM:601812 |
| Andersen-Tawil Syndrome |
|
High palate, Abnormality of the dentition, Bidirectional ventricular ectopy, Hypoplasia of the ma... |
ORPHA:37553 |
| Cleft Velum |
|
Conductive hearing impairment, Velopharyngeal insufficiency, Aspiration pneumonia, Hypoplasia of ... |
ORPHA:99772 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
| Rubinstein-Taybi Syndrome 1 |
|
High palate, Dental crowding, Pectus excavatum, Prominent fingertip pads, Cleft palate, Ventricul... |
OMIM:180849 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Charge Syndrome |
|
Aplasia of the semicircular canal, Cleft palate, Hemivertebrae, Tracheoesophageal fistula, Down-s... |
OMIM:214800 |
| Yunis-Varon Syndrome |
|
Hydrocephalus, Abnormal pinna morphology, Slender long bones with narrow diaphyses, Absent thumb,... |
ORPHA:3472 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cleft palate, Delayed eruption of teeth, Abnormal metaphysis morphology, Severe short stature, In... |
ORPHA:2780 |
| Apert Syndrome |
|
Vertebral segmentation defect, Ectopic anus, Hydrocephalus, Narrow palate, Sensorineural hearing ... |
ORPHA:87 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Short stature, Abnormality of the dentition, Osteolysis, Hypoplas... |
ORPHA:2776 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Cleft palate, Anencephaly, Micromelia, Ventricular septal defect, Mandibular progn... |
ORPHA:1908 |
| Bartsocas-Papas Syndrome 1 |
|
Absent thumb, Cleft palate, Short neck, Oral synechia, Hypoplasia of the maxilla, Omphalocele, Mi... |
OMIM:263650 |
| Diabetic Embryopathy |
|
Vertebral segmentation defect, Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Cleft palate,... |
ORPHA:1926 |
| Feingold Syndrome 1 |
|
High palate, Annular pancreas, Duodenal atresia, Short toe, 2-3 toe syndactyly, Everted lower lip... |
OMIM:164280 |
| Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Lower limb pain, Osteopenia, Mitral regurgitation, Thoracolumbar scoliosis, Mitr... |
OMIM:606631 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Cleft palate, Ulnar deviation of finger, Pyloric stenosis, Ventricular septal defect, Sandal gap,... |
ORPHA:261330 |
| Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Micrognathia, Scoliosis, Fused cervical vertebrae, Thoracic ky... |
ORPHA:530983 |
| Orofaciodigital Syndrome Type 10 |
|
Short neck, Retrognathia, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Oligodactyly... |
ORPHA:2756 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
| 3Mc Syndrome 1 |
|
Abnormality of the abdominal wall, Cleft palate, Radioulnar synostosis, Ventricular septal defect... |
OMIM:257920 |
| Keipert Syndrome |
|
Short distal phalanx of finger, Sensorineural hearing impairment, Clinodactyly of the 5th finger,... |
ORPHA:2662 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... |
OMIM:617927 |
| Gracile Bone Dysplasia |
|
Micropenis, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic spleen, Ankyloglossi... |
OMIM:602361 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Hydrocephalus, Malar flattening, Short stature, Abnormality of ... |
OMIM:109120 |
| Achondrogenesis, Type Ii |
|
Disproportionate short-limb short stature, Cleft palate, Short ribs, Barrel-shaped chest, Hydrops... |
OMIM:200610 |
| Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Delayed eruption ... |
ORPHA:2712 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Pulmonary hypoplasia, Bowing of ... |
OMIM:614091 |
| Fibrochondrogenesis |
|
Narrow chest, Wide anterior fontanel, Narrow mouth, Cleft palate, Short ribs, Short stature, Camp... |
ORPHA:2021 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Micrope... |
OMIM:300209 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
High palate, Pectus excavatum, Atrial septal defect, Abnormally folded helix, Flexion contracture... |
OMIM:309520 |
| Bardet-Biedl Syndrome 11 |
|
Abnormality of the kidney, Polydactyly |
OMIM:615988 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Bronchiolitis, Renal cyst, Renal insu... |
OMIM:615993 |
| Marfan Syndrome |
|
Tricuspid valve prolapse, Reduced subcutaneous adipose tissue, Mitral annular calcification, Pect... |
OMIM:154700 |
| Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Cleft palate, Glo... |
ORPHA:3104 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Myelomeningocele, Rib fusion, Short stature, Hemivertebrae, Spina ... |
OMIM:613686 |
| Pentalogy Of Cantrell |
|
Hydrocephalus, Abnormal sternum morphology, Atrial septal defect, Congenital diaphragmatic hernia... |
ORPHA:1335 |
| Lateral Meningocele Syndrome |
|
High palate, Pectus excavatum, Short neck, Ventricular septal defect, Umbilical hernia, High, nar... |
ORPHA:2789 |
| 8Q22.1 Microdeletion Syndrome |
|
Abnormal antihelix morphology, Abnormal pinna morphology, Craniosynostosis, Abnormality of the de... |
ORPHA:178303 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Pectus excavatum, Joint dislocation, Bruising susceptibility, Inguinal hernia, Hyperextensibility... |
OMIM:130000 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Tricuspid valve prolapse, High palate, Pectus excavatum, Hiatus hernia, Cleft palate, Umbilical h... |
OMIM:601776 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Sensorineural hearing impairment, Conductive h... |
OMIM:118100 |
| Miller-Dieker Lissencephaly Syndrome |
|
Abnormality of the abdominal wall, Cleft palate, Delayed eruption of teeth, Single transverse pal... |
OMIM:247200 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Aplas... |
ORPHA:2476 |
| Fibrodysplasia Ossificans Progressiva |
|
Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly of the 5th finger, ... |
OMIM:135100 |
| Mckusick-Kaufman Syndrome |
|
High palate, Cleft palate, Ventricular septal defect, Ectopic anus, Anal atresia, Tetralogy of Fa... |
ORPHA:2473 |
| Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Atrial septal defect, Absent thumb, Short stature, Hypoplasia of t... |
OMIM:609053 |
| Kbg Syndrome |
|
Cleft palate, Short stature, Vertebral fusion, Cutaneous syndactyly, Short neck, Scoliosis, Finge... |
ORPHA:2332 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
High palate, Pectus excavatum, Furrowed tongue, Hypoplasia of the maxilla, Mandibular prognathia,... |
OMIM:300534 |
| Cleidocranial Dysplasia |
|
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... |
ORPHA:1452 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... |
ORPHA:397973 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cleft palate, Micropenis, Renal agenesis, Short lingual frenulum, ... |
ORPHA:2326 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Narrow chest, Hydrocephalus, Abnormal pinna morphology, Atrial septal defect, Congenital diaphrag... |
OMIM:616546 |
| Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Short stature, Syndactyly, Brac... |
OMIM:613005 |
| Johnson Neuroectodermal Syndrome |
|
Cleft palate, Micropenis, Carious teeth, Ventricular septal defect, Patent ductus arteriosus, Rig... |
OMIM:147770 |
| Emanuel Syndrome |
|
High palate, Cleft palate, Congenital hip dislocation, Delayed eruption of teeth, Ventricular sep... |
ORPHA:96170 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Micrognathia, Cleft palate, Hand oligodactyly |
OMIM:172880 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
High palate, Protruding ear, Flexion contracture, Arachnodactyly, Thin vermilion border, Overfold... |
ORPHA:481152 |
| Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate sh... |
OMIM:156530 |
| Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Short clavicles, Atrial septal defect, Short stature, Cupped ear, Wormian bones, Te... |
OMIM:617159 |
| Acrocraniofacial Dysostosis |
|
Abnormal pinna morphology, Pectus excavatum, Cleft palate, Craniosynostosis, Short 1st metacarpal... |
ORPHA:949 |
| Fryns Syndrome |
|
Wide mouth, Abnormal helix morphology, Prominent fingertip pads, Cleft palate, Short neck, Ventri... |
OMIM:229850 |
| Codas Syndrome |
|
Atrioventricular canal defect, Congenital hip dislocation, Delayed eruption of teeth, Crumpled ea... |
OMIM:600373 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Triangular mouth, Cleft palate, Short neck, Ventricular septal defect, Omphalocele, Anteriorly pl... |
OMIM:616894 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular septal defect, ... |
OMIM:249670 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Abnormal hand morphology, Ventricular septal defect, Osteolysis, Omphalocele, Pterygi... |
ORPHA:371428 |
| Pallister-Hall Syndrome |
|
Cleft palate, Atrioventricular canal defect, Hemivertebrae, Ventricular septal defect, Umbilical ... |
ORPHA:672 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Dislocated radial head, Micrognathia, Mandibular condyle hypoplasia... |
ORPHA:2975 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Pectus excavatum, Hemivertebrae, Macrodontia, Pectus carinatum, Mandibular prognat... |
OMIM:263540 |
| Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Ulnar deviation of the hand, Malar flattening, Ulnar deviation ... |
OMIM:122880 |
| Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, P... |
ORPHA:794 |
| Orofaciodigital Syndrome Vi |
|
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... |
OMIM:277170 |
| Trisomy 20P |
|
Abnormal antihelix morphology, Abnormality of the dentition, Short philtrum, Platyspondyly, Short... |
ORPHA:261318 |
| Fryns Syndrome |
|
High palate, Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Short neck, Pulmonary ... |
ORPHA:2059 |
| Blomstrand Lethal Chondrodysplasia |
|
Accelerated skeletal maturation, Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Pulmon... |
ORPHA:50945 |
| Bardet-Biedl Syndrome 12 |
|
Abnormality of the kidney, Polydactyly |
OMIM:615989 |
| Mandibulofacial Dysostosis With Alopecia |
|
Low-set ears, Bicuspid aortic valve, Conductive hearing impairment, Protruding ear, Cleft palate,... |
OMIM:616367 |
| Alg9-Cdg |
|
Wide mouth, Short neck, Ventricular septal defect, Lipodystrophy, Rhizomelia, Pulmonary hypoplasi... |
ORPHA:79328 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Dental crowding, Wide mouth, Pectus excavatum, Triangular mouth, Hypoplastic sacrum, Hypoplasia o... |
OMIM:268310 |
| Frank-Ter Haar Syndrome |
|
Wide mouth, Short philtrum, Delayed eruption of teeth, Osteolysis, Umbilical hernia, Mandibular p... |
ORPHA:137834 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Delayed eruption of teeth, Hypoplasia of the ... |
OMIM:257850 |
| Arthrogryposis, Distal, Type 3 |
|
High palate, Pectus excavatum, Cleft palate, Congenital hip dislocation, Short neck, Down-sloping... |
OMIM:114300 |
| Sweeney-Cox Syndrome |
|
High palate, Anal atresia, Narrow mouth, Short clavicles, Cleft palate, Short philtrum, Cutaneous... |
OMIM:617746 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cleft palate, Osteopenia, Short neck, Rhizomelia, Intrauterine growth retardation, V... |
OMIM:611209 |
| Mend Syndrome |
|
High palate, Kyphosis, Hydrocephalus, Overlapping toe, Aortic valve stenosis, Microretrognathia, ... |
OMIM:300960 |
| Phaver Syndrome |
|
Myelomeningocele, Broad hallux phalanx, Camptodactyly of finger, Coarctation of aorta, Radioulnar... |
ORPHA:2876 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Anal atresia, Short stature, Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle pha... |
ORPHA:1436 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
| Femoral-Facial Syndrome |
|
Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Vertebral segmentation def... |
ORPHA:1988 |
| Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Short stature, Hydrops fetalis, Abnormality of limb bone morpholo... |
ORPHA:2204 |
| Holoprosencephaly |
|
Abnormal antihelix morphology, Hydrocephalus, Short neck, Ventricular septal defect, Median cleft... |
ORPHA:2162 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid valve prolapse, High palate, Hydrocephalus, Abnormal antihelix morphology, Abnormal hel... |
ORPHA:261337 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly, Micropenis |
OMIM:615983 |
| Peters-Plus Syndrome |
|
Hydrocephalus, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Birth... |
OMIM:261540 |
| Neonatal Marfan Syndrome |
|
Tricuspid valve prolapse, Crumpled ear, Pectus carinatum, Heart murmur, Abnormal cardiac ventricl... |
ORPHA:284979 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Kyphosis, Joint stiffness, Beaking of vertebral bodies, Hypoplastic vertebral bod... |
OMIM:230500 |
| Coarctation Of Aorta |
|
Coarctation of aorta, Hypoplastic left heart |
OMIM:120000 |
| Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Abnormality ... |
OMIM:192430 |
| Catel-Manzke Syndrome |
|
High palate, Abnormal pinna morphology, Pectus excavatum, Cleft palate, Short neck, Pectus carina... |
OMIM:616145 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Hydrocephalus, Wide anterior fontanel, Atrial septal defect, Promi... |
OMIM:614886 |
| Arthrogryposis, Distal, Type 1C |
|
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... |
OMIM:619110 |
| Meier-Gorlin Syndrome 4 |
|
Narrow mouth, Genu recurvatum, Short stature, Microtia, Micrognathia, Birth length less than 3rd ... |
OMIM:613804 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Pectus excavatum, High, narrow palate, Cleft palate, Camptodactyl... |
ORPHA:957 |
| Cardiospondylocarpofacial Syndrome |
|
Wide mouth, Muscular ventricular septal defect, Cone-shaped epiphysis, Ventricular septal defect,... |
OMIM:157800 |
| Cranioectodermal Dysplasia 2 |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Short neck, Microdontia, Rhizomeli... |
OMIM:613610 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis, Occipital encephalocele |
OMIM:614416 |
| Ring Chromosome 21 Syndrome |
|
Holoprosencephaly, Fused thoracic vertebrae, Small hand, Short stature, Scoliosis, Syndactyly, Na... |
ORPHA:1445 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus, Hypodontia, Inguinal hernia, Everted lower lip vermilion, Short philtrum, Microdon... |
OMIM:601499 |
| Pfeiffer Syndrome |
|
High palate, Hydrocephalus, Elbow ankylosis, Finger syndactyly, Coronal craniosynostosis, Short m... |
OMIM:101600 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Cleft palate, Congenital hip dislocation, Anophthalmia, Abnormal thorax mo... |
OMIM:164180 |
| Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Malar flattening, Short stature, Everted upper lip vermilion, Abnor... |
OMIM:182290 |
| Limb Body Wall Complex |
|
Hydrocephalus, Cleft palate, Aplasia of the proximal phalanges of the hand, Anencephaly, Ventricu... |
ORPHA:2369 |
| Crouzon Syndrome |
|
Conductive hearing impairment, Hydrocephalus, Narrow palate, Multiple suture craniosynostosis, Hy... |
ORPHA:207 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Hypoplasia of the maxilla, Protruding ear |
OMIM:618302 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Femoral bowing, Platyspondyly, Biconcave vertebral bodies, Hypoplasia of the maxilla,... |
OMIM:231070 |
| Cerebrofacioarticular Syndrome |
|
Conductive hearing impairment, Narrow mouth, Talipes equinovarus, Tracheomalacia, Pulmonic stenos... |
ORPHA:314679 |
| Simpson-Golabi-Behmel Syndrome |
|
Wide mouth, Pectus excavatum, Abnormal helix morphology, Accelerated skeletal maturation, Cleft p... |
ORPHA:373 |
| Anophthalmia Plus Syndrome |
|
Vertebral segmentation defect, Cleft palate, Anophthalmia, Low-set, posteriorly rotated ears, Dev... |
ORPHA:1104 |
| Melorheostosis |
|
Joint stiffness, Increased bone mineral density, Arthritis, Lymphedema, Atypical scarring of skin... |
ORPHA:2485 |
| Pseudoaminopterin Syndrome |
|
High palate, Overlapping toe, Clinodactyly of the 5th toe, Slender finger, Postaxial polydactyly,... |
ORPHA:221120 |
| Neu-Laxova Syndrome 2 |
|
High palate, Intrauterine growth retardation, Cleft palate, Micrognathia, Short neck, Scoliosis, ... |
OMIM:616038 |
| Frontometaphyseal Dysplasia 2 |
|
High palate, Abnormal pinna morphology, Pectus excavatum, Cleft palate, Short philtrum, Congenita... |
OMIM:617137 |
| Neu-Laxova Syndrome 1 |
|
Cleft palate, Short neck, Micromelia, Small placenta, Ventricular septal defect, Pulmonary hypopl... |
OMIM:256520 |
| Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Accelerated skeletal maturation, Abnormally ossified vertebra... |
ORPHA:175 |
| Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Renal tubu... |
OMIM:610205 |
| Stickler Syndrome, Type I |
|
Pectus excavatum, Cleft palate, Platyspondyly, Joint stiffness, Spondylolisthesis, Micrognathia, ... |
OMIM:108300 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Upper limb undergrowth, Polyhydramnios, Pulmonary hyp... |
OMIM:613124 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cleft palate, Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Single transverse palmar cr... |
OMIM:614701 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Scoliosis, Vasculitis, Arthritis, Inflammation of the large intestine, Osteolysis,... |
ORPHA:324964 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... |
ORPHA:1909 |
| Phocomelia, Schinzel Type |
|
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Short neck, Micromelia, Aplasi... |
ORPHA:2879 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Congenital hip dislocation, Delayed eruption of teeth, Wormian bones, Omphalocele, ... |
OMIM:614450 |
| Meier-Gorlin Syndrome 5 |
|
Short stature, Microtia, Micrognathia, Prominent metopic ridge, Birth length less than 3rd percen... |
OMIM:613805 |
| Carpenter Syndrome |
|
Preaxial foot polydactyly, Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial... |
ORPHA:65759 |
| Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear, Congenital diaphragmatic hernia, Ma... |
ORPHA:1488 |
| Down Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Single transverse palmar crease, Sandal... |
OMIM:190685 |
| Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Short stature, Coronal craniosynostosis, Micrognathia, Small hand, Long phi... |
OMIM:145420 |
| Zttk Syndrome |
|
High palate, Craniosynostosis, Hemivertebrae, Abnormality of the dentition, Short philtrum, Ventr... |
OMIM:617140 |
| Autosomal Recessive Robinow Syndrome |
|
Wide mouth, Pectus excavatum, Abnormality of the dentition, Short philtrum, Short neck, Pectus ca... |
ORPHA:1507 |
| Fanconi Anemia, Complementation Group O |
|
Anal atresia, Absent thumb, Hypoplasia of the radius, Small thenar eminence, Renal cyst, Hydronep... |
OMIM:613390 |
| Stickler Syndrome |
|
Cleft palate, Platyspondyly, Advanced eruption of teeth, Pectus carinatum, Genu valgum, Abnormal ... |
ORPHA:828 |
| Iniencephaly |
|
Hydrocephalus, Anencephaly, Rhizomelia, Omphalocele, Rocker bottom foot, Encephalocele, Anal atre... |
ORPHA:63259 |
| Mucopolysaccharidosis Type 4 |
|
Wide mouth, Abnormality of the dentition, Platyspondyly, Short neck, Pectus carinatum, Carious te... |
ORPHA:582 |
| Mucopolysaccharidosis Type 7 |
|
Joint stiffness, Enlarged thorax, Inguinal hernia, Abnormal hip bone morphology, Anterior beaking... |
ORPHA:584 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Conductive hearing impairment, Cleft palate, Camptodactyly of finger, Finger clinodactyly, Brachy... |
ORPHA:306542 |
| Nager Syndrome |
|
Joint stiffness, Wide mouth, Cleft palate, Microtia, Hypoplasia of the radius, Micrognathia, Low-... |
ORPHA:245 |
| Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Micropenis, Hypospadias, Malfor... |
OMIM:614175 |
| Gm1 Gangliosidosis Type 1 |
|
Platyspondyly, Pectus carinatum, Spatulate ribs, Intrauterine growth retardation, Short long bone... |
ORPHA:79255 |
| Meckel Syndrome |
|
Urethral atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Preaxial h... |
ORPHA:564 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Widening of cervical spinal canal, Cervical vertebral bodies with decreased anteroposterior diame... |
OMIM:606842 |
| Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Short sternum, Congenital diaphragmatic... |
OMIM:222448 |
| Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of upper lip, Polyhydramnios, Omphalocele, Growth del... |
ORPHA:531 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Malar flattening, Craniosynostosis, Short stature, Micrognathia, C... |
ORPHA:2145 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Ectopic anus, Wide mouth, Aplasia/Hypoplasia affecting the eye, Sensorineural hearing impairment,... |
ORPHA:2549 |
| Ear-Patella-Short Stature Syndrome |
|
Cleft palate, Craniosynostosis, Anotia, Abnormal epiphysis morphology, Hypoplasia of the maxilla,... |
ORPHA:2554 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Cleft palate, Short neck, Sco... |
OMIM:618469 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Cleft palate, Short neck, Umbilical hernia, Intrauterine growt... |
ORPHA:2311 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antihelix morphology, Short neck, Pectus carinatum, Abnormal epiphysis morphology, Mandi... |
ORPHA:3082 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Short distal phalanx of finger, Conductive hearing impairment, Short stature, Coronal craniosynos... |
ORPHA:2095 |
| Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Intestinal obstruction, Abno... |
ORPHA:449400 |
| Hallermann-Streiff Syndrome |
|
High palate, Pectus excavatum, Decreased number of sternal ossification centers, Microphthalmia, ... |
OMIM:234100 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial hand polydactyly, Short fourth metatarsal, Micropenis, Polyuria, Brachydactyly, Polydac... |
OMIM:615994 |
| Prune Belly Syndrome |
|
Abnormality of the ureter, Congenital hip dislocation, Ventricular septal defect, Congenital post... |
ORPHA:2970 |
| Femoral-Facial Syndrome |
|
Cleft palate, Short fourth metatarsal, Radioulnar synostosis, Ventricular septal defect, Short fi... |
OMIM:134780 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Urethral st... |
ORPHA:1727 |
| Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Abnormal morphology of ulna, Cleft palate, Abnormality of tibia morphol... |
ORPHA:971 |
| Neu-Laxova Syndrome |
|
Cleft palate, Osteopenia, Micromelia, Pulmonary hypoplasia, Pterygium, Trismus, Intrauterine grow... |
ORPHA:2671 |
| Mosaic Trisomy 14 |
|
Narrow chest, High palate, Wide mouth, Ectopic anus, Aplasia/Hypoplasia affecting the eye, Cleft ... |
ORPHA:1703 |
| Mucolipidosis Type Iii |
|
Joint stiffness, Large iliac wing, Inguinal hernia, Reduced bone mineral density, Abnormal hip bo... |
ORPHA:577 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cleft palate, Platyspondyly, Pectus carinatum, Ventricular septal defect, Pulmonary hypoplasia, S... |
OMIM:263520 |
| Meckel Syndrome, Type 2 |
|
Microphthalmia, Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand po... |
OMIM:603194 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Malformation of the hepatic ductal plat... |
OMIM:607361 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Congenital diaphragmatic hernia, Tracheomalacia, Microtia, Micrognathia, Tracheoes... |
ORPHA:268249 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Tricuspid stenosis, Horseshoe kidney, Abnormal heart morphology, Anal atresia,... |
ORPHA:391641 |
| Monosomy 5P |
|
High palate, Recurrent fractures, Microretrognathia, Inguinal hernia, Short stature, Small hand, ... |
ORPHA:281 |
| Say Syndrome |
|
Short distal phalanx of finger, Cleft palate, Ulnar deviation of the 3rd finger, Proximal renal t... |
OMIM:181180 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Cleft palate, Hemivertebrae, Macrodontia, Vaginal hernia, Mandibul... |
ORPHA:2916 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media... |
ORPHA:401942 |
| Mullegama-Klein-Martinez Syndrome |
|
Sensorineural hearing impairment, Abnormal cardiac septum morphology, Clinodactyly of the 5th fin... |
OMIM:301022 |
| Split-Hand/Foot Malformation 1 |
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Ectrodactyly, Hand oligodactyly, Cleft palate, Split foot, Syndactyly, Broad hallux, Triphalangea... |
OMIM:183600 |
| 22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Hydrocephalus, Cleft palate, Overfolded helix, Abnormality of the dentition, S... |
ORPHA:567 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Narrow mouth, Arteriovenous malformation, Abnormal hip bone morphology, Genu varum, Carious teeth... |
ORPHA:1110 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Pursed lips, Inguinal hernia, Microtia, Micrognathia, Coat hange... |
ORPHA:254519 |
| Orofaciodigital Syndrome Viii |
|
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Recurrent aspiration pneumonia, ... |
OMIM:300484 |
| Jawad Syndrome |
|
Thoracic scoliosis, Postaxial polydactyly, Retrognathia, Single interphalangeal crease of fifth f... |
OMIM:251255 |
| Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vert... |
ORPHA:1801 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology, Spina bifid... |
ORPHA:64754 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cleft palate, Split foot, Abnormality of the urinary system, Median cleft lip... |
DECIPHER:46 |
| Focal Dermal Hypoplasia |
|
Hydrocephalus, Hiatus hernia, Cleft palate, Congenital hip dislocation, Delayed eruption of teeth... |
OMIM:305600 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Overlapping toe, Atrial septal defect, Bilateral talipes equinovarus, Postaxial poly... |
OMIM:618142 |
| Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Abnormality of the humerus, Delayed eruption of teeth, Carious t... |
ORPHA:1328 |
| Acrofacial Dysostosis, Catania Type |
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Pectus excavatum, Abnormality of the dentition, Carious teeth, Delayed skeletal maturation, Intra... |
ORPHA:1786 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Diastasis recti, Coat hanger sign of ribs, Large placenta, Ventricular septal defect, Polyhydramn... |
ORPHA:254534 |
| Meier-Gorlin Syndrome 3 |
|
Birth length less than 3rd percentile, Hypoplasia of the maxilla, Delayed skeletal maturation, In... |
OMIM:613803 |
| 16P13.11 Microduplication Syndrome |
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Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot, Ventricular sept... |
ORPHA:261243 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Syndactyly, Hepatic cysts, Ventricular septal defect, Renal cyst, Duplicati... |
OMIM:263630 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Pulmonary edema, Atrial septal defect, Abnormal coronary arte... |
ORPHA:980 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, High palate, Low-set ears, Lumbar hyperlordosis, Sensorineural h... |
OMIM:617796 |
| Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Congenital diaphragmatic hernia, Intest... |
ORPHA:2143 |
| Mucopolysaccharidosis, Type Vi |
|
Hydrocephalus, Prominent sternum, Delayed eruption of teeth, Pectus carinatum, Carious teeth, Dis... |
OMIM:253200 |
| Meckel Syndrome, Type 5 |
|
Cleft upper lip, Cleft palate, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly... |
OMIM:611561 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
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Hypoplastic tricuspid valve, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Ventricular sept... |
OMIM:600001 |
| Schisis Association |
|
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Tracheoesophageal fistula, Anencepha... |
ORPHA:63862 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Anal atresia, Short stature, Hypoplasia of the maxilla, Macrotia, Mandibular prognathia |
ORPHA:93950 |
| Classical Ehlers-Danlos Syndrome |
|
Tricuspid valve prolapse, Hiatus hernia, Osteopenia, Orthostatic hypotension, Phalangeal dislocat... |
ORPHA:287 |
| Hydrolethalus Syndrome 1 |
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Abnormal pinna morphology, Cleft palate, Anencephaly, Upper limb undergrowth, Ventricular septal ... |
OMIM:236680 |
| Fryns Microphthalmia Syndrome |
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Abnormality of the ear, Abnormality of the vertebral column, Anophthalmia, Macrotia, Neural tube ... |
OMIM:600776 |
| Yunis-Varon Syndrome |
|
High palate, Absent thumb, Decreased calvarial ossification, Congenital hip dislocation, Cutaneou... |
OMIM:216340 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Abnormality of the abdominal wall, Hydrocephalus, Accelerated skeletal maturation, Cleft palate, ... |
OMIM:245600 |
| Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Hypoplasia of the maxilla, Craniosynostosis |
OMIM:608432 |
| Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Broad long bones, Disproportionate short-limb short stature, ... |
OMIM:166210 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Overlapping toe, Narrow mouth, Thin ribs, Long clavicles, Retrognathia, Contracture of the distal... |
ORPHA:83617 |
