| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Cleft upper lip, Cleft pala... |
OMIM:231060 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal lung morphology, Congenital malformation of the great arteries, Upper limb phocomelia, P... |
ORPHA:294975 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Dextrocardia, Ectopia of the spleen, Ri... |
OMIM:613751 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Cystic renal dysplasia, Enlarged kidney, Cholestasis,... |
OMIM:615415 |
| Conotruncal Heart Malformations |
|
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... |
OMIM:217095 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... |
OMIM:113100 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Bulbous nose, Broad thumb, Patent ductus arteriosus, Bicuspid aortic valve, C... |
OMIM:612474 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Unilateral renal agenes... |
OMIM:601355 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Long philtrum, Dislocated radial head, Atrial septal defect, Truncus arteriosus, Short nose, Abno... |
ORPHA:401935 |
| Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow disloc... |
ORPHA:1106 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal agenesis, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnorma... |
ORPHA:2516 |
| Thymic Aplasia With Fetal Death |
|
Renal agenesis, Pulmonary hypoplasia, Truncus arteriosus, Ureteral agenesis |
OMIM:274210 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... |
ORPHA:93403 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormality of the ribs, Platyspondyly, Short philtrum, Short neck,... |
ORPHA:93267 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... |
OMIM:606217 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Mesomelia, Hypoplasia of the uln... |
OMIM:228940 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Situs inversus totalis, Abdominal situs ambiguus, Single ventricle, Aorto... |
OMIM:208530 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Achondrogenesis Type 1B |
|
Polyhydramnios, Thickened nuchal skin fold, Short thorax, Disproportionate short stature, Short n... |
ORPHA:93298 |
| Greenberg Dysplasia |
|
Polyhydramnios, Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Narrow che... |
OMIM:215140 |
| Aarskog-Scott Syndrome |
|
Oral cleft, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum, Joint hyperfle... |
ORPHA:915 |
| Achondrogenesis Type 1A |
|
Polyhydramnios, Thickened nuchal skin fold, Short thorax, Hydrops fetalis, Short neck, Long philt... |
ORPHA:93299 |
| Basal Cell Nevus Syndrome |
|
Irregular ossification of hand bones, Scoliosis, Polydactyly, Abnormal sternum morphology, Mandib... |
OMIM:109400 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus, Underdeveloped nasal alae, Smooth philtrum, Thin upper lip vermilion, Cleft p... |
OMIM:611867 |
| Isolated Klippel-Feil Syndrome |
|
Scoliosis, Spina bifida, Abnormality of the vertebral column, Ventricular septal defect, Sprengel... |
ORPHA:2345 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Short 5th metacarpal, Patent ductus arteriosus, Abnormal hand mor... |
ORPHA:228190 |
| Achondrogenesis |
|
Polyhydramnios, Thickened nuchal skin fold, Short thorax, Hydrops fetalis, Short neck, Long philt... |
ORPHA:932 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Wormian bones, Hydrops fetalis, Decreased fibular diameter, Multiple prenatal fra... |
OMIM:616897 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Narrow mouth, Polysplenia, Hypodontia, Microglossia, Asplenia, High palate |
OMIM:612776 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Short finger, Short 5th metacarpal, Patent ductus arteriosus, Bic... |
OMIM:604381 |
| Frontometaphyseal Dysplasia 1 |
|
Scoliosis, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, Sensorin... |
OMIM:305620 |
| Kagami-Ogata Syndrome |
|
Polyhydramnios, Patent ductus arteriosus, Omphalocele, Premature birth, Pulmonary arterial hypert... |
OMIM:608149 |
| Fibrochondrogenesis 1 |
|
Hydrops fetalis, Narrow mouth, Camptodactyly, Omphalocele, Hypoplastic ischia, Narrow greater sci... |
OMIM:228520 |
| Carpenter Syndrome 1 |
|
Scoliosis, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Patent ductus arteriosu... |
OMIM:201000 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Polyhydramnios, Hypoplasia of the premaxilla, Postaxial hand polydactyly, Narrow mouth, Holoprose... |
ORPHA:2166 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Scoliosis, Joint hypermobility, Polyhydramnios, Craniosynostosis, Narrow chest, Patent ductus art... |
OMIM:213980 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Open bite, Narrow mouth, Narrow chest, Downturned corners of mouth, Mandibular prognathia, Short ... |
ORPHA:1327 |
| Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Hypoplastic frontal sinuses, Camptodactyly, Lipoma of corpus callosum, ... |
OMIM:136760 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... |
OMIM:616749 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Macrotia, Micrognathia, Vertebral fusion, Dextrocardia, Cleft palate, Microphthalmia, Anophthalmi... |
OMIM:221950 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Foot oligodactyly, Esophageal va... |
OMIM:616589 |
| Trisomy 13 |
|
Scoliosis, Abnormality of the antihelix, Hydrops fetalis, Narrow chest, Patent ductus arteriosus,... |
ORPHA:3378 |
| Triploidy |
|
Polyhydramnios, Macroglossia, Short neck, Narrow mouth, Narrow chest, Finger syndactyly, Holopros... |
ORPHA:3376 |
| Otopalatodigital Syndrome Type 2 |
|
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Narrow chest, Flared iliac wing, Elbow d... |
ORPHA:90652 |
| Lujan-Fryns Syndrome |
|
Scoliosis, Camptodactyly of finger, Short philtrum, Atrial septal defect, Dental crowding, Joint ... |
ORPHA:776 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... |
ORPHA:363417 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Short m... |
OMIM:156510 |
| 20P12.3 Microdeletion Syndrome |
|
Long philtrum, Thickened helices, Atrial septal defect, Broad thumb, Narrow mouth, Wolff-Parkinso... |
ORPHA:261295 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Trisomy 1Q |
|
Polyhydramnios, Hydrops fetalis, Narrow mouth, Patent ductus arteriosus, Omphalocele, Increased n... |
ORPHA:261344 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Oligodactyly, Short philtrum, Absent forearm, Wide anterior fontanel, Overlapping toe, Micrognath... |
OMIM:201170 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polyhydramnios, Underdeveloped nasal alae, Omphalocele, Ulnar deviation of the hand, Narrow great... |
OMIM:263210 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Scoliosis, Narrow chest, Pectus carinatum, Mandibular prognathia, Pectus excavatum, Kyphosis, Hig... |
OMIM:300676 |
| Microgastria-Limb Reduction Defects Association |
|
Hypoplasia of the radius, Horseshoe kidney, Cystic renal dysplasia, Secundum atrial septal defect... |
OMIM:156810 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Long philtrum, Short neck, Bulbous nose, Underdeveloped nasal alae, Everted lower lip vermilion, ... |
OMIM:616549 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hydrops fetalis, Narrow palate, Narrow chest, Omphalocele, Cardiomegaly, High palate, Short neck,... |
OMIM:617022 |
| Melnick-Needles Syndrome |
|
Scoliosis, Narrow chest, Omphalocele, Short distal phalanx of finger, Short clavicles, Abnormalit... |
ORPHA:2484 |
| Boomerang Dysplasia |
|
Polyhydramnios, Abnormality of tibia morphology, Severe short-limb dwarfism, Abnormality of femur... |
ORPHA:1263 |
| Frontometaphyseal Dysplasia |
|
Scoliosis, Limited wrist movement, Oligodontia, Craniosynostosis, Short metatarsal, Short phalanx... |
ORPHA:1826 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Narrow mouth, Narrow chest, Forearm undergrowth, Absent radius, Abnormality of ... |
OMIM:251230 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Narrow mouth, ... |
ORPHA:2412 |
| Neurofaciodigitorenal Syndrome |
|
Hypoplasia of the premaxilla, Abnormality of the philtrum, Mandibular prognathia, Abnormality of ... |
ORPHA:2673 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Narrow mout... |
OMIM:265000 |
| Chondrodysplasia, Blomstrand Type |
|
Accelerated skeletal maturation, Squared iliac bones, Polyhydramnios, Hydrops fetalis, Advanced t... |
OMIM:215045 |
| Fibular Hemimelia |
|
Hip subluxation, Craniosynostosis, Joint laxity, Bowing of the legs, Joint stiffness, Anophthalmi... |
ORPHA:93323 |
| Martsolf Syndrome 1 |
|
Short phalanx of finger, Joint laxity, Slender ulna, Metatarsus adductus, Cardiac arrest, Broad f... |
OMIM:212720 |
| Primary Ciliary Dyskinesia |
|
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... |
ORPHA:244 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Intestinal malrotation, Aplasia/Hypo... |
ORPHA:3426 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Cubitus valgus, Congenital generalized lipodystrophy, Slender long bones with narrow... |
OMIM:608154 |
| Mohr Syndrome |
|
Scoliosis, Wormian bones, Accessory oral frenulum, Metaphyseal irregularity, Tongue nodules, Lobu... |
OMIM:252100 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Patent ductus arteriosus, Intestinal malrotation, Pancreatic fibrosis, Ureteral atresia, Renal in... |
OMIM:208540 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow palate, Joint laxity, Camptodactyly, Met... |
OMIM:182212 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Epiphyseal stippling, Tracheal calcification, Proportionate short stature, Optic disc hypoplasia,... |
ORPHA:79345 |
| Achondrogenesis, Type Ib |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Narrow chest, Hypoplastic ilia, Umbilical hernia, Sh... |
OMIM:600972 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Mosaic Trisomy 9 |
|
Scoliosis, Polyhydramnios, Hydrops fetalis, Bulbous nose, Elbow dislocation, Patent ductus arteri... |
ORPHA:99776 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Short neck, Abnormality of dental morphology, Pectus... |
ORPHA:2522 |
| Otopalatodigital Syndrome, Type Ii |
|
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Short me... |
OMIM:304120 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Clubbing of fingers, Hydrops fetalis, Narrow mouth, Narrow chest, Hypoplastic ischia, Bowing of t... |
ORPHA:1865 |
| Oculodentodigital Dysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Underdeveloped nasal alae, Mandibular prognathi... |
ORPHA:2710 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Toe syndactyly, Finger syndact... |
ORPHA:2008 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... |
OMIM:618780 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Dextrocardia, Asplenia, Situs inversus totalis |
OMIM:618948 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Short phalanx of finger, Joint laxit... |
OMIM:170390 |
| Microphthalmia, Syndromic 9 |
|
Single ventricle, Patent ductus arteriosus, Multilobulated spleen, Pelvic kidney, Agenesis of pul... |
OMIM:601186 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Polyhydramnios, Narrow mout... |
ORPHA:96334 |
| Cohen Syndrome |
|
Scoliosis, Open mouth, Aplasia/Hypoplasia of the tongue, Sandal gap, Delayed puberty, Slender toe... |
ORPHA:193 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Scoliosis, Broad thumb, Absent radius, Sensorineural hearing impairment, Phocomelia, Micrognathia... |
ORPHA:3320 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad thumb, Camptodactyly, Omphalocele, Triangular mouth, Micrognathia, Long philtrum, Low-set e... |
OMIM:618529 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... |
OMIM:144750 |
| Coffin-Lowry Syndrome |
|
Scoliosis, Narrow palate, Open mouth, Short distal phalanx of finger, Sensorineural hearing impai... |
ORPHA:192 |
| Atelosteogenesis, Type I |
|
Polyhydramnios, Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platyspondyly, Premat... |
OMIM:108720 |
| Shprintzen-Goldberg Syndrome |
|
Scoliosis, Craniosynostosis, Narrow chest, Elbow dislocation, Joint stiffness, Abnormality of the... |
ORPHA:2462 |
| Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the distal phalanges of the hand, Broad nasal tip, Osteolytic defects of th... |
OMIM:259610 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Solitary median maxillary central incisor, Anophthalmia, Hydrocepha... |
OMIM:610829 |
| Holzgreve Syndrome |
|
Hand polydactyly, Renal hypoplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate, Renal ... |
OMIM:236110 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Atrial septal defect, Absent gallbladder, Ventricular septal defect, Pat... |
ORPHA:210122 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Mandibular prognathia, Hypermobility of i... |
ORPHA:508498 |
| Pallister-Hall Syndrome |
|
Y-shaped metacarpals, Atresia of the external auditory canal, Natal tooth, Patent ductus arterios... |
OMIM:146510 |
| Osteopathia Striata With Cranial Sclerosis |
|
Scoliosis, Polyhydramnios, Delayed closure of the anterior fontanelle, Overfolded helix, Dental c... |
OMIM:300373 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular se... |
OMIM:306955 |
| Stickler Syndrome Type 1 |
|
Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal... |
ORPHA:90653 |
| Microphthalmia With Limb Anomalies |
|
Postnatal growth retardation, Sandal gap, Anophthalmia, High palate, Depressed nasal bridge, Post... |
OMIM:206920 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Narrow mouth, Abnormality of the metacarpal bones, Sensorineural hearing impai... |
ORPHA:1307 |
| Mucopolysaccharidosis, Type Vii |
|
Scoliosis, Hydrops fetalis, Postnatal growth retardation, Anterior beaking of lumbar vertebrae, M... |
OMIM:253220 |
| Cohen Syndrome |
|
Joint hypermobility, Short metatarsal, Open mouth, Delayed puberty, Mitral valve prolapse, High, ... |
OMIM:216550 |
| Mulibrey Nanism |
|
Enamel hypoplasia, Hydrops fetalis, Dental crowding, Hypoplastic frontal sinuses, Cardiomegaly, T... |
OMIM:253250 |
| Mosaic Trisomy 1 |
|
Polyhydramnios, Omphalocele, Oral cleft, Increased nuchal translucency, Long toe, Congenital diap... |
ORPHA:1692 |
| Kniest Dysplasia |
|
Laryngotracheomalacia, Spinal cord compression, Joint stiffness, Delayed epiphyseal ossification,... |
ORPHA:485 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormality of the antihelix, Atrial septal defect, Preaxial hand polydactyly, Large earlobe, Abs... |
ORPHA:79113 |
| Syndactyly, Type Iv |
|
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... |
OMIM:186200 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Scoliosis, Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Pectus carinatu... |
ORPHA:3268 |
| Synpolydactyly 1 |
|
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... |
OMIM:186000 |
| Mosaic Trisomy 20 |
|
Scoliosis, Narrow chest, Micrognathia, Dysplastic tricuspid valve, Clinodactyly, Cleft lip, Cleft... |
ORPHA:1724 |
| Pelvis-Shoulder Dysplasia |
|
Bilateral external ear deformity, Hypoplastic ischia, Acetabular dysplasia, Neonatal short-trunk ... |
ORPHA:2839 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... |
OMIM:274000 |
| Maxillonasal Dysplasia |
|
Scoliosis, Patchy distortion of vertebrae, Open bite, Short nose, Mandibular prognathia, Short di... |
ORPHA:1248 |
| Aicardi Syndrome |
|
Scoliosis, Hiatus hernia, Prominence of the premaxilla, Spina bifida, Recurrent pneumonia, Anteve... |
OMIM:304050 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Camptodactyly, Abdominal situs inversus, Pulmonic stenosis, Asplenia, ... |
OMIM:619123 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Limited elbow extension, Carious teeth, Delayed closure of the anterior fontanelle, Wormian bones... |
OMIM:604922 |
| Focal Dermal Hypoplasia |
|
Scoliosis, Open bite, Abnormal dental enamel morphology, Split hand, Patent ductus arteriosus, Om... |
ORPHA:2092 |
| Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Platyspondyly, Oligodontia, Widely spaced teeth, Mandibular prognathia, ... |
OMIM:601216 |
| Cenani-Lenz Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... |
ORPHA:3258 |
| Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Narrow chest, Natal tooth, Patent ductus arteriosus, Omphalocele, Anencephaly, Ho... |
OMIM:269860 |
| Pde4D Haploinsufficiency Syndrome |
|
Accelerated skeletal maturation, Abnormal dental enamel morphology, Short metatarsal, Short phala... |
ORPHA:439822 |
| Subaortic Stenosis--Short Stature Syndrome |
|
Short phalanx of finger, Shield chest, Narrow mouth, Short neck, Barrel-shaped chest, Hypoplasia ... |
OMIM:271960 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... |
OMIM:311300 |
| Atelosteogenesis, Type Iii |
|
Scoliosis, Cervical segmentation defect, Elbow dislocation, Hitchhiker thumb, Sandal gap, Flat ac... |
OMIM:108721 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly, Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
| Turnpenny-Fry Syndrome |
|
Polyhydramnios, Narrow mouth, Narrow chest, Dental crowding, Mandibular prognathia, Patent ductus... |
OMIM:618371 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Scoliosis, Ventricular septal defect, Conductive hearing impairment, Sprengel anomaly, Abnormalit... |
OMIM:214300 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal form of the vertebral bodies, Micrognathia, Abnormality of the dentition, Abnormality of... |
ORPHA:3104 |
| C Syndrome |
|
Scoliosis, Patent ductus arteriosus, Omphalocele, High palate, Micrognathia, Dislocated radial he... |
OMIM:211750 |
| Distal Trisomy 15Q |
|
Camptodactyly of finger, Long philtrum, Short neck, Downturned corners of mouth, Pectus excavatum... |
ORPHA:1707 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short 3rd metacarpal, Short toe, Broad thumb, Moderate hearing impairment, Broad nasal tip, Recur... |
ORPHA:370010 |
| Heart Defects-Limb Shortening Syndrome |
|
Accelerated skeletal maturation, Abnormality of the ribs, Atrial septal defect, Disproportionate ... |
ORPHA:1354 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Tooth agenesis, Vesi... |
ORPHA:1166 |
| Aarskog-Scott Syndrome |
|
Scoliosis, Mild short stature, Joint laxity, Delayed puberty, Prominent umbilicus, Cervical spine... |
OMIM:305400 |
| Lowry-Maclean Syndrome |
|
Craniosynostosis, Downturned corners of mouth, Choanal atresia, Congenital diaphragmatic hernia, ... |
ORPHA:2409 |
| Melnick-Needles Syndrome |
|
Narrow chest, Omphalocele, Short distal phalanx of finger, Short clavicles, Pulmonary arterial hy... |
OMIM:309350 |
| Marshall-Smith Syndrome |
|
Scoliosis, Accelerated skeletal maturation, Prominence of the premaxilla, Overfolded helix, Paten... |
OMIM:602535 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small thenar eminence, Talipes equinovarus, Spina bifida, Small hypothenar eminence, Long philtru... |
OMIM:211960 |
| Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Dextrocardia, Spina bifida occulta, High palate, Micrognathia, Ectrodactyl... |
ORPHA:2437 |
| Myhre Syndrome |
|
Thin vermilion border, Large iliac wing, Narrow mouth, Mandibular prognathia, Gingival cleft, Joi... |
ORPHA:2588 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Scoliosis, Camptodactyly of finger, Aniridia, Long philtrum, Mandibular prognathia, Pectus excava... |
ORPHA:1101 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Bulbous nose, Split hand, Inte... |
OMIM:259600 |
| Palant Cleft Palate Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Bulbous nose, Cleft palate, ... |
OMIM:260150 |
| Infantile Sialic Acid Storage Disease |
|
Hydrops fetalis, Metaphyseal irregularity, High palate, Abnormal thorax morphology, Congestive he... |
OMIM:269920 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edema, Pulmonary artery ... |
ORPHA:3384 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Metatarsal osteolysis, Metacarpal osteolysis, Hypertension, Ulnar deviation of the hand, Carpal o... |
OMIM:166300 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Tricuspid regurgitation, Bilateral single transverse palmar creases, Sh... |
ORPHA:1120 |
| Bardet-Biedl Syndrome 6 |
|
Polydactyly, Hypospadias, Syndactyly, Renal cyst |
OMIM:605231 |
| Multiple Pterygium Syndrome, X-Linked |
|
Polyhydramnios, Multiple pterygia, Fetal akinesia sequence, Short finger, Flexion contracture, Th... |
OMIM:312150 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal sacrum morphology, Conductive hearing impairment,... |
ORPHA:93262 |
| Cardioacrofacial Dysplasia 1 |
|
Genu valgum, Short philtrum, Complete atrioventricular canal defect, Diastema, Postaxial polydact... |
OMIM:619142 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Polyhydramnios, Joint laxity, Open mouth, Camptodactyly, Omphalocele, Postnatal growth retardatio... |
ORPHA:254528 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Sprengel anomaly, Choanal atresia, Esophageal atresia, Submucous cleft hard pal... |
OMIM:619227 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Broad thumb, Joint laxity, Open mouth, Dental crowding, High palate, Micrognathia, Hypoplasia of ... |
OMIM:309520 |
| Trisomy 18 |
|
Narrow palate, Narrow mouth, Choanal atresia, Omphalocele, Anencephaly, Bilateral single transver... |
ORPHA:3380 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 finger syndactyly, Postaxial hand polydactyly, Complete atrioventricular canal defect, Hamart... |
OMIM:217085 |
| Cardiospondylocarpofacial Syndrome |
|
Scoliosis, Tarsal synostosis, Joint laxity, Pseudoepiphyses, Long philtrum, Recurrent otitis medi... |
OMIM:157800 |
| 3C Syndrome |
|
Scoliosis, Intestinal malrotation, Postnatal growth retardation, Hemivertebrae, Oral cleft, High,... |
ORPHA:7 |
| Distal Monosomy 19P13.3 |
|
Pulmonary valve atresia, Short philtrum, Ventricular septal defect, Conductive hearing impairment... |
ORPHA:96129 |
| Lateral Meningocele Syndrome |
|
Scoliosis, Joint hypermobility, Wormian bones, Dental crowding, Patent ductus arteriosus, High pa... |
OMIM:130720 |
| Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome |
|
Clubbing of fingers, Superiorly displaced ears, Swan neck-like deformities of the fingers, Abnorm... |
ORPHA:329252 |
| Weill-Marchesani Syndrome 2 |
|
Scoliosis, Short metatarsal, Narrow palate, Proportionate short stature, Patent ductus arteriosus... |
OMIM:608328 |
| Holoprosencephaly 7 |
|
Semilobar holoprosencephaly, Hypoplasia of the premaxilla, Median cleft lip and palate, Absent na... |
OMIM:610828 |
| Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation |
|
Camptodactyly of finger, High palate, Clinodactyly, Protruding ear, Short stature, Talipes equino... |
ORPHA:85279 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Atrial septal defect, Aglossia, Patent ductus arteriosus, Coronal craniosynostosis, ... |
OMIM:241310 |
| Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis, Narrow chest, Short distal phalanx of finger, Abnormality of the... |
ORPHA:85166 |
| Autosomal Dominant Coarctation Of Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... |
ORPHA:1455 |
| Weill-Marchesani Syndrome 1 |
|
Scoliosis, Narrow palate, Proportionate short stature, Patent ductus arteriosus, Joint stiffness,... |
OMIM:277600 |
| Acrodysostosis |
|
Accelerated skeletal maturation, Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, M... |
ORPHA:950 |
| Emanuel Syndrome |
|
Long philtrum, Delayed eruption of primary teeth, Atrial septal defect, Truncus arteriosus, Conge... |
OMIM:609029 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Overlapping... |
OMIM:617478 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Short distal phalanx of finger, Low-... |
OMIM:614261 |
| Van Den Ende-Gupta Syndrome |
|
Distal ulnar hypoplasia, Craniosynostosis, Underdeveloped nasal alae, Dental crowding, High palat... |
OMIM:600920 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Right aortic arch, Situs inversus totalis, Bronchiectasis |
OMIM:617577 |
| Axial Mesodermal Dysplasia Spectrum |
|
Scoliosis, Omphalocele, Aplasia/Hypoplasia of the lungs, Missing ribs, Premature birth, Congenita... |
ORPHA:1834 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Absent hand, Crossed fused renal ectopia, Elbow dislocation, Intestinal malrotation, Abnormality ... |
ORPHA:2538 |
| Van Maldergem Syndrome 1 |
|
Scoliosis, Joint laxity, Narrow chest, Downturned corners of mouth, Atresia of the external audit... |
OMIM:601390 |
| Meier-Gorlin Syndrome 1 |
|
Absent glenoid fossa, Joint laxity, Narrow mouth, Elbow dislocation, Camptodactyly, Atresia of th... |
OMIM:224690 |
| Distal Trisomy 14Q |
|
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus, Abnormality of the ... |
ORPHA:1705 |
| Cerebrofaciothoracic Dysplasia |
|
Scoliosis, Polyhydramnios, Short nose, Narrow chest, Low-set, posteriorly rotated ears, Sprengel ... |
ORPHA:1394 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Polyhydramnios, Multiple pterygia, Fetal akinesia sequence, Short finger, Flexion contracture, Th... |
OMIM:253290 |
| Dysostosis, Stanescu Type |
|
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Massively thickened l... |
ORPHA:1798 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Ventricular septal defect, Short middle ... |
OMIM:113000 |
| Van Maldergem Syndrome 2 |
|
Scoliosis, Joint laxity, Narrow chest, Downturned corners of mouth, Atresia of the external audit... |
OMIM:615546 |
| Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Generalized osteosclerosis, Bone pain, Osteopoikilosis, Hyperostosis, Joint sti... |
ORPHA:1306 |
| Aicardi Syndrome |
|
Hip dysplasia, Hiatus hernia, Prominence of the premaxilla, Scoliosis, Short philtrum, Rib fusion... |
ORPHA:50 |
| Fountain Syndrome |
|
Scoliosis, Abnormality of the metacarpal bones, Short distal phalanx of finger, Facial edema, Sen... |
ORPHA:3219 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Natal tooth, Patent ductus arteriosus, Intestinal malrotation, Lobulat... |
OMIM:249000 |
| Orofaciodigital Syndrome Xviii |
|
Genu valgum, Short philtrum, Short middle phalanx of finger, Diastema, Preaxial polydactyly, Post... |
OMIM:617927 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Renal cyst, Bilateral triphalangeal thumbs |
OMIM:138790 |
| Myhre Syndrome |
|
Narrow mouth, Mandibular prognathia, Pericardial effusion, Camptodactyly, Patent ductus arteriosu... |
OMIM:139210 |
| Gm1 Gangliosidosis |
|
Scoliosis, Hydrops fetalis, Narrow mouth, Mandibular prognathia, Patent ductus arteriosus, Joint ... |
ORPHA:354 |
| Orofaciodigital Syndrome Xvii |
|
Clubbing of fingers, Central Y-shaped metacarpal, Renal hypoplasia, Polydactyly, Short middle pha... |
OMIM:617926 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Thin vermilion border, Abnormality of the amniotic fluid, Flexion contracture, Nonimmune hydrops ... |
OMIM:608540 |
| Renal Tubular Dysgenesis |
|
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Bilateral single... |
ORPHA:3033 |
| Apert Syndrome |
|
Anomalous tracheal cartilage, Narrow palate, Mandibular prognathia, Choanal atresia, Hydrocephalu... |
OMIM:101200 |
| Split-Hand/Foot Malformation 3 |
|
Narrow mouth, Microretrognathia, Split hand, Camptodactyly, Abnormality of the pinna, Cleft palat... |
OMIM:246560 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Scoliosis, Respiratory tract infection, Short nose, Macrotia, Hypoplasia of the maxilla, 2-3 toe ... |
OMIM:218000 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Short distal phalanx o... |
OMIM:311895 |
| Asymmetric Short Stature Syndrome |
|
Dental crowding, Lumbar scoliosis, Hemihypotrophy of lower limb, Asymmetric short stature, Microg... |
OMIM:108450 |
| Premature Aging Syndrome, Penttinen Type |
|
Scoliosis, Delayed eruption of teeth, Wormian bones, Thin vermilion border, Lipoatrophy, Delayed ... |
OMIM:601812 |
| Microphthalmia, Syndromic 12 |
|
Broad nasal tip, Ventricular septal defect, Hypoplastic left atrium, Anophthalmia, Wide nasal bri... |
OMIM:615524 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Scoliosis, Accelerated skeletal maturation, Epiphyseal stippling, Short metatarsal, Short phalanx... |
OMIM:101800 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis, Abnormality of the dentition, Short distal phalanx of finger, Short stature, Broad na... |
ORPHA:2776 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Long philtrum, Hypoplasia of the radius, Lateral clavicle hook, Narrow chest, Ventricular septal ... |
OMIM:617895 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Accelerated skeletal maturation, Carious teeth, Small epiphyses, Short femoral neck, A... |
OMIM:618363 |
| Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Narrow mouth, Short nose, Ulnar deviation of the wrist, Sensorineural he... |
ORPHA:1529 |
| Distal Xq28 Microduplication Syndrome |
|
Absent antihelix, Broad nasal tip, Open mouth, Dental crowding, Recurrent upper respiratory tract... |
ORPHA:293939 |
| Hydrolethalus |
|
Polyhydramnios, Postaxial hand polydactyly, Arrhinencephaly, Low-set, posteriorly rotated ears, T... |
ORPHA:2189 |
| Nephronophthisis 16 |
|
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Cholestasis,... |
OMIM:615382 |
| Acalvaria |
|
Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Omphalocele, Cleft palate, Hydroceph... |
ORPHA:945 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... |
ORPHA:99050 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Upper limb asymmetry, Omphalocele, Aplasia/Hypoplasia of the radius, Abnormal ... |
ORPHA:2141 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Clubbing of fingers, Generalized bone demineralization, Abnormal bone ossification, Narrow chest,... |
ORPHA:73230 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Abnormality of the ribs, Bowing of the long bones, Intestinal malrotation, Omphalo... |
ORPHA:3035 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Oligodactyly, Atrial septal defect, Downturned corners of mouth, Underdeveloped nasal alae, Choan... |
ORPHA:521308 |
| Metatropic Dysplasia |
|
Scoliosis, Narrow chest, Aplasia/Hypoplasia of the lungs, Joint stiffness, Abnormality of the rib... |
ORPHA:2635 |
| Teebi Hypertelorism Syndrome |
|
Long philtrum, Atrial septal defect, Craniosynostosis, Short nose, Ventricular septal defect, Bro... |
OMIM:145420 |
| Scimitar Syndrome |
|
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Left superior vena cava draining t... |
ORPHA:185 |
| Kbg Syndrome |
|
Scoliosis, Oligodontia, Underdeveloped nasal alae, Thoracic kyphosis, Persistent open anterior fo... |
ORPHA:2332 |
| Vacterl/Vater Association |
|
Polyhydramnios, Omphalocele, Anencephaly, Aplasia/Hypoplasia of the lungs, Premature birth, Conge... |
ORPHA:887 |
| Sialidosis Type 2 |
|
Osteoporosis, Short thorax, Hydrops fetalis, Pectus carinatum, Kyphosis, Flexion contracture, Ped... |
ORPHA:87876 |
| Diastrophic Dwarfism |
|
Scoliosis, Elbow dislocation, Overfolded helix, Abnormality of the metacarpal bones, Increased bo... |
ORPHA:628 |
| Pseudodiastrophic Dysplasia |
|
Scoliosis, Platyspondyly, Elbow dislocation, Rhizomelia, Phalangeal dislocation, Omphalocele, Tal... |
ORPHA:85174 |
| Cerebrocostomandibular Syndrome |
|
Spina bifida, Myelomeningocele, Ventricular septal defect, Posterior rib gap, Conductive hearing ... |
ORPHA:1393 |
| Orofaciodigital Syndrome Type 10 |
|
Tarsal synostosis, Short neck, Micrognathia, Mesomelic leg shortening, Hypoplasia of proximal rad... |
ORPHA:2756 |
| Chromosome 9P Deletion Syndrome |
|
Scoliosis, Narrow mouth, Patent ductus arteriosus, Omphalocele, Choanal atresia, High palate, Hig... |
OMIM:158170 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Scoliosis, Large iliac wing, Increased bone mineral density, Spina bifida occulta, Abnormality of... |
ORPHA:2780 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... |
ORPHA:2790 |
| Apert Syndrome |
|
Broad thumb, Narrow palate, Mandibular prognathia, Choanal atresia, Sensorineural hearing impairm... |
ORPHA:87 |
| Lamb-Shaffer Syndrome |
|
Hip dysplasia, Scoliosis, Thoracic kyphosis, Thick vermilion border, Mild postnatal growth retard... |
ORPHA:530983 |
| Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Mesoaxial polydactyly, Polydactyly, Dextrocardia, Renal cyst, Stage 5 chr... |
OMIM:615994 |
| Fibrochondrogenesis |
|
Narrow mouth, Narrow chest, Omphalocele, Abnormality of the ribs, Abnormality of the metaphysis, ... |
ORPHA:2021 |
| Cleidocranial Dysplasia |
|
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Open bite, Narrow che... |
ORPHA:1452 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate, Renal hypopl... |
ORPHA:3316 |
| Hydrocephalus With Associated Malformations |
|
Intestinal malrotation, Omphalocele, Tibial bowing, Lower limb undergrowth, Pulmonary hypoplasia,... |
OMIM:236640 |
| Pfeiffer Syndrome |
|
Humeroradial synostosis, Broad thumb, Short nose, Finger syndactyly, Dental crowding, Mandibular ... |
OMIM:101600 |
| Ulnar Hemimelia |
|
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Elbow pain, Limited shoulder movem... |
ORPHA:93320 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Abnormality of the dentition, Syndactyly, Renal cyst, Brachydactyly, Abnormality of ... |
OMIM:615982 |
| Hallermann-Streiff Syndrome |
|
Scoliosis, Joint hypermobility, Wormian bones, Thin vermilion border, Narrow palate, Narrow mouth... |
OMIM:234100 |
| Keipert Syndrome |
|
Short hallux, Broad distal phalanx of finger, Broad thumb, Broad hallux phalanx, Tented upper lip... |
ORPHA:2662 |
| Yunis-Varon Syndrome |
|
Polyhydramnios, Small earlobe, Thin vermilion border, Hydrops fetalis, Tapered toe, Aplasia/Hypop... |
OMIM:216340 |
| Chromosome 1P36 Deletion Syndrome |
|
Scoliosis, Delayed closure of the anterior fontanelle, Asymmetry of the ears, Camptodactyly, Pate... |
OMIM:607872 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts, Abnormality of the liver |
DECIPHER:47 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Scoliosis, Bifid distal phalanx of toe, Hypoplastic sacrum, Broad thumb, Dental crowding, Triangu... |
OMIM:268310 |
| Cleft Velum |
|
Conductive hearing impairment, Recurrent otitis media, Aspiration pneumonia, Cleft soft palate, V... |
ORPHA:99772 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Scoliosis, Ventricular hypertrophy, Generalized bone demineralization, Short phalanx of finger, S... |
OMIM:143095 |
| Jackson-Weiss Syndrome |
|
Short metatarsal, Toe syndactyly, Broad hallux phalanx, Mandibular prognathia, Broad metatarsal, ... |
ORPHA:1540 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Macrotia, Mandibular prognathia, Pectus excavatum, High palate, Large hands, Diastema, Short dist... |
OMIM:300534 |
| Acrocraniofacial Dysostosis |
|
Craniosynostosis, Broad thumb, Flared iliac wing, Choanal atresia, Short distal phalanx of finger... |
ORPHA:949 |
| Yunis-Varon Syndrome |
|
Polyhydramnios, Thin vermilion border, Hydrops fetalis, Bilateral external ear deformity, Slender... |
ORPHA:3472 |
| Frank-Ter Haar Syndrome |
|
Scoliosis, Mandibular prognathia, Abnormality of the metacarpal bones, Joint stiffness, Mitral va... |
ORPHA:137834 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Natal tooth, Patent ductus arteriosus, Omphalocele, Postaxial polydactyly, Horizont... |
OMIM:616300 |
| Lateral Meningocele Syndrome |
|
Scoliosis, Wormian bones, Dental crowding, Atresia of the external auditory canal, Sensorineural ... |
ORPHA:2789 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Scoliosis, Broad thumb, Hypoplastic right heart, Short phalanx of finger, Downturned corners of m... |
OMIM:616894 |
| Vacterl With Hydrocephalus |
|
Anotia, Polyhydramnios, Hemivertebrae, Anophthalmia, Micrognathia, Hydrocephalus, Hypoplasia of t... |
ORPHA:3412 |
| Bartsocas-Papas Syndrome 1 |
|
Arthrogryposis multiplex congenita, Short phalanx of finger, Underdeveloped nasal alae, Omphaloce... |
OMIM:263650 |
| Blomstrand Lethal Chondrodysplasia |
|
Accelerated skeletal maturation, Polyhydramnios, Hydrops fetalis, Narrow chest, Natal tooth, Incr... |
ORPHA:50945 |
| Sweeney-Cox Syndrome |
|
Short philtrum, Narrow mouth, Underdeveloped nasal alae, Choanal atresia, Wide nasal bridge, Anal... |
OMIM:617746 |
| Feingold Syndrome 1 |
|
4-5 toe syndactyly, Accessory spleen, Everted lower lip vermilion, Polysplenia, Patent ductus art... |
OMIM:164280 |
| Multiple Synostoses Syndrome 3 |
|
Cubitus valgus, Humeroradial synostosis, Cutaneous syndactyly of toes, Broad thumb, Hallux varus,... |
OMIM:612961 |
| Oculofaciocardiodental Syndrome |
|
Scoliosis, Oligodontia, Flexion contracture of the 2nd toe, Patent ductus arteriosus, Intestinal ... |
ORPHA:2712 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Abnormal dental enamel morphology, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Dent... |
OMIM:257850 |
| 8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormality of the antihelix, Craniosynostosis, Long philtrum, Finger sy... |
ORPHA:178303 |
| Smith-Magenis Syndrome |
|
Scoliosis, Abnormality of the forearm, Abnormal heart morphology, Broad palm, Mandibular prognath... |
OMIM:182290 |
| Miller-Dieker Lissencephaly Syndrome |
|
Polyhydramnios, Polydactyly, Camptodactyly, Omphalocele, Micrognathia, Deep palmar crease, Low-se... |
OMIM:247200 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteoporosis, Squared iliac bones, Short neck, Cellulitis, Macrotia, Atrophic scars, Ventral hern... |
OMIM:618000 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly, Multicystic kidney dy... |
ORPHA:2091 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Scoliosis, Abnormality of the antihelix, Bulbous nose, Mandibular prognathia, Patent ductus arter... |
ORPHA:261337 |
| Duane-Radial Ray Syndrome |
|
Scoliosis, Optic disc hypoplasia, Choanal atresia, Sandal gap, Absent radius, Sensorineural heari... |
OMIM:607323 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Congenital hip dislocation, Pneumonia, High palate, Micropenis, Wide nose, Recurrent upper respir... |
OMIM:300209 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Posterior rib fusion, Misalignment of the pulmonary veins, Pulmonary insufficienc... |
OMIM:265380 |
| Saethre-Chotzen Syndrome |
|
Scoliosis, Open bite, Abnormality of the antihelix, Craniosynostosis, Broad thumb, Narrow palate,... |
ORPHA:794 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Scoliosis, Congenital hip dislocation, Metaphyseal irregularity, Joint laxity, Posterior scallopi... |
OMIM:603546 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Scoliosis, Spina bifida occulta, Congenital diaphragmatic hernia, Abnormality of the ribs, Short ... |
ORPHA:2311 |
| Frontometaphyseal Dysplasia 2 |
|
Scoliosis, Short metatarsal, Congenital hip dislocation, Camptodactyly, Patent ductus arteriosus,... |
OMIM:617137 |
| Codas Syndrome |
|
Enamel hypoplasia, Scoliosis, Polyhydramnios, Congenital hip dislocation, Short phalanx of finger... |
OMIM:600373 |
| Trisomy 20P |
|
Scoliosis, Abnormality of the antihelix, Thin vermilion border, Downturned corners of mouth, Shor... |
ORPHA:261318 |
| Marfan Syndrome |
|
Scoliosis, Joint hypermobility, Narrow palate, Dental crowding, Camptodactyly, Tricuspid regurgit... |
OMIM:154700 |
| Cerebrofacioarticular Syndrome |
|
Narrow mouth, Camptodactyly, Micrognathia, Hypoplasia of the maxilla, Anal stenosis, Bilateral ch... |
ORPHA:314679 |
| Camurati-Engelmann Disease, Type 2 |
|
Lower limb pain, Hyperostosis, Delayed puberty, Thoracolumbar scoliosis, Hip contracture, Knee fl... |
OMIM:606631 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... |
ORPHA:3269 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hydrops fetalis, Narrow chest, Polydactyly, Postaxial polydactyly, Short distal phalanx of finger... |
OMIM:614091 |
| Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Broad long bones, Hypoplastic iliac wing, Absent ver... |
OMIM:200610 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Spinal dysraphism, Anencephaly, Micrognathia, Hydrocephalus, Situs inversu... |
ORPHA:1908 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Scoliosis, Short femur, Ventricular septal defect, Holoprosencephaly, Foot oligodactyly, Omphaloc... |
OMIM:601357 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Low-set, posteriorly rotated ears, Spinal dysraphism, Aplasia/Hypoplas... |
ORPHA:1926 |
| Fibrodysplasia Ossificans Progressiva |
|
Short hallux, Scoliosis, Small cervical vertebral bodies, Conductive hearing impairment, Widely s... |
OMIM:135100 |
| Femoral-Facial Syndrome |
|
Scoliosis, Aplasia/Hypoplasia of the tibia, Oral cleft, Abnormality of the ribs, Abnormality of p... |
ORPHA:1988 |
| Camptosynpolydactyly, Complex |
|
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly |
OMIM:607539 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Micrognathia, Hand oligodactyly, Cleft palate |
OMIM:172880 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Narrow mouth, Underdeveloped nasal alae, Recurrent urinary tract infections, Choanal atresia, San... |
ORPHA:261330 |
| Mend Syndrome |
|
Overlapping fingers, Overlapping toe, Microretrognathia, Polydactyly, Kyphosis, 2-3 toe syndactyl... |
OMIM:300960 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Joint hypermobility, Thin vermilion border, Broad thumb, Bulbous nose, Overfolded helix, High pal... |
ORPHA:481152 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Nephronophthisis, Macroglossia, Short phalanx of finger, Cone-shaped epiphysis, Wide mouth, Nephr... |
OMIM:266920 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Lambdoidal craniosynostosis, Dental crowding, Patent ductus arterios... |
OMIM:257920 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly, Abnormality of the kidney |
OMIM:615988 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Arthrogryposis multiplex congenita, Low-set ears, Decreased fetal movement, E... |
OMIM:616570 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Ventricular septal defect, Anencephaly, Aplasia/Hypoplasia of the radius, Gastrosch... |
ORPHA:2476 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormality of the vertebral column, Rieger anomaly, Sensorineural hearing impairment, Abnormal a... |
OMIM:109120 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of limb bone morphology, Scoliosis, Conductive hearing impairment, Sprengel anomaly, ... |
OMIM:118100 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Bilateral cl... |
ORPHA:1104 |
| Miller-Dieker Syndrome |
|
Polyhydramnios, Short nose, Growth delay, Omphalocele, Sacral dimple, Abnormality of upper lip, C... |
ORPHA:531 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Bronchiolitis, Recurrent respiratory infections, Renal dysplasia, Renal cyst... |
OMIM:615993 |
| Pseudotrisomy 13 Syndrome |
|
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Postaxial hand polydactyly,... |
OMIM:264480 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Scoliosis, Camptodactyly, Postnatal growth retardation, Abnormality of the ribs, High palate, Sho... |
OMIM:611209 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... |
ORPHA:1209 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Short philtrum, Abnormal heart morphology, Anal stenosis, Mandibular prognathia, Everted lower li... |
OMIM:601499 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint hypermobility, Premature birth following premature rupture of fetal membranes, Cigarette-pa... |
OMIM:130000 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Bilateral single transverse palmar creases, Premature birth, Spina bifida occulta,... |
ORPHA:1786 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Enamel hypoplasia, Tarsal synostosis, Narrow chest, Mandibular prognathia, Hemivertebrae, Hypopla... |
OMIM:263540 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Mandibular prognathia, C... |
ORPHA:397973 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... |
ORPHA:2326 |
| Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Dental crowding, Conductive hearing impairment, Everted lower ... |
OMIM:616367 |
| Fanconi Anemia, Complementation Group O |
|
Hypoplasia of the radius, Abnormal heart morphology, Anal atresia, Hydronephrosis, Rectal atresia... |
OMIM:613390 |
| Mckusick-Kaufman Syndrome |
|
Tarsal synostosis, Patent ductus arteriosus, Abnormality of the metacarpal bones, High palate, Re... |
ORPHA:2473 |
| Johnson Neuroectodermal Syndrome |
|
Carious teeth, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Right aortic ar... |
OMIM:147770 |
| Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, ... |
OMIM:609053 |
| Phocomelia, Schinzel Type |
|
Abnormality of tibia morphology, Hydrops fetalis, High, narrow palate, Short neck, Micrognathia, ... |
ORPHA:2879 |
| Fryns Syndrome |
|
Polyhydramnios, Narrow chest, Intestinal malrotation, Omphalocele, Short distal phalanx of finger... |
ORPHA:2059 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Short neck, Narrow chest, Low-set, posteriorly rotated ears, Wide mouth,... |
ORPHA:1703 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Velocardiofacial Syndrome |
|
Right aortic arch with mirror image branching, Bulbous nose, Interrupted aortic arch, Open mouth,... |
OMIM:192430 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Smooth phil... |
ORPHA:1727 |
| Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Craniosynostosis, Hydrops fetalis, Joint laxity, Narrow chest, Polydactyly, Paten... |
OMIM:613610 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Short thorax, Situs inversus totalis, Rib fusion, Vertebral segmentation defect, Hemivertebrae, V... |
OMIM:613686 |
| Phaver Syndrome |
|
Broad thumb, Overfolded helix, Broad hallux phalanx, Joint stiffness, Short thumb, Abnormality of... |
ORPHA:2876 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Shor... |
OMIM:617516 |
| Neonatal Marfan Syndrome |
|
Joint hypermobility, Abnormal echocardiogram, Enlarged thorax, Crumpled ear, Tricuspid regurgitat... |
ORPHA:284979 |
| Meier-Gorlin Syndrome 4 |
|
Lateral clavicle hook, Narrow mouth, Thick lower lip vermilion, Genu recurvatum, Emphysema, Slend... |
OMIM:613804 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Low-set, posteriorly ro... |
ORPHA:2972 |
| Cartilage-Hair Hypoplasia |
|
Scoliosis, Accelerated skeletal maturation, Narrow chest, Spinal dysraphism, Abnormality of the m... |
ORPHA:175 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Submucous cleft lip, Patent ductus arteriosus, High ... |
ORPHA:96170 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Dislocated radial head, Deformed humerus, Mandibular condyle hypopl... |
ORPHA:2975 |
| Orofaciodigital Syndrome Vi |
|
Preaxial hand polydactyly, Renal agenesis, Broad nasal tip, Central Y-shaped metacarpal, Tongue n... |
OMIM:277170 |
| Holoprosencephaly |
|
Scoliosis, Abnormality of the antihelix, Branchial anomaly, Spinal dysraphism, Choanal atresia, O... |
ORPHA:2162 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Ulnar deviation of the hand, Sensorineural hearing impairment, Ulnar deviation of the... |
OMIM:122880 |
| Mullegama-Klein-Martinez Syndrome |
|
Scoliosis, Bulbous nose, Polydactyly, Sensorineural hearing impairment, Congenital diaphragmatic ... |
OMIM:301022 |
| Achondrogenesis, Type Ia |
|
Polyhydramnios, Hydrops fetalis, Hypoplastic ischia, Short clavicles, Short neck, Barrel-shaped c... |
OMIM:200600 |
| Santos Syndrome |
|
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... |
OMIM:613005 |
| Catel-Manzke Syndrome |
|
Joint laxity, Camptodactyly, Ulnar deviation of the 2nd finger, Hyperphalangy of the 2nd finger, ... |
OMIM:616145 |
| Peters-Plus Syndrome |
|
Scoliosis, Polyhydramnios, Thin vermilion border, Craniosynostosis, Agenesis of maxillary lateral... |
OMIM:261540 |
| Kagami-Ogata Syndrome |
|
Polyhydramnios, Pursed lips, Omphalocele, Postnatal growth retardation, Premature birth, Broad ph... |
ORPHA:254519 |
| Simpson-Golabi-Behmel Syndrome |
|
Scoliosis, Accelerated skeletal maturation, Polyhydramnios, Broad thumb, Congenital hip dislocati... |
ORPHA:373 |
| Acrocephalopolysyndactyly Type Iii |
|
Preaxial hand polydactyly, Broad thumb, Craniosynostosis, Short neck, Dental crowding, Mandibular... |
OMIM:101120 |
| Fryns Syndrome |
|
Polyhydramnios, Camptodactyly, Intestinal malrotation, Omphalocele, Short distal phalanx of finge... |
OMIM:229850 |
| Mucopolysaccharidosis, Type Iva |
|
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Mandibular prognathia, Large elbo... |
OMIM:253000 |
| Mycophenolate Mofetil Embryopathy |
|
Anotia, Hydrops fetalis, Ventricular septal defect, Atresia of the external auditory canal, Trach... |
ORPHA:268249 |
| Zttk Syndrome |
|
Scoliosis, Joint hypermobility, Thin vermilion border, Craniosynostosis, Narrow mouth, Downturned... |
OMIM:617140 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Atrial septal defect, Hydrops fetalis, Narrow chest, Preaxial polydactyly, Postax... |
OMIM:616546 |
| Arthrogryposis, Distal, Type 1C |
|
Scoliosis, Pursed lips, Thin vermilion border, Narrow mouth, Increased nuchal translucency, Wrist... |
OMIM:619110 |
| Crouzon Disease |
|
Narrow palate, Narrow internal auditory canal, Hypoplasia of the maxilla, Conductive hearing impa... |
ORPHA:207 |
| Hemifacial Microsomia |
|
Anotia, Branchial anomaly, Atresia of the external auditory canal, Patent ductus arteriosus, Hemi... |
OMIM:164210 |
| Verheij Syndrome |
|
Long philtrum, Short nose, Renal hypoplasia, Wide nasal bridge, Thin upper lip vermilion, Abnorma... |
OMIM:615583 |
| Pallister-Hall Syndrome |
|
Broad thumb, Atresia of the external auditory canal, Natal tooth, 3-4 finger cutaneous syndactyly... |
ORPHA:672 |
| Gm1 Gangliosidosis Type 1 |
|
Abnormality of odontoid tissue, Hydrops fetalis, Broad long bone diaphyses, Flared iliac wing, Be... |
ORPHA:79255 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Abnormal form of th... |
ORPHA:2180 |
| Stickler Syndrome |
|
Scoliosis, Open bite, Abnormal dental enamel morphology, Bone pain, Sensorineural hearing impairm... |
ORPHA:828 |
| Arthrogryposis, Distal, Type 3 |
|
Arthrogryposis multiplex congenita, Congenital hip dislocation, Short phalanx of finger, High pal... |
OMIM:114300 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly, Abnormality of the kidney |
OMIM:615989 |
| Mucopolysaccharidosis Type 4 |
|
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, Abnormality of the r... |
ORPHA:582 |
| Meckel Syndrome, Type 8 |
|
Postaxial hand polydactyly, Short nose, Polydactyly, Low-set ears, Cleft palate, Microphthalmia, ... |
OMIM:613885 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Scoliosis, Hydrops fetalis, Dilated cardiomyopathy, Abnormal heart valve morpholo... |
OMIM:230500 |
| Femoral-Facial Syndrome |
|
Short fifth metatarsal, Abnormal renal collecting system morphology, Underdeveloped nasal alae, M... |
OMIM:134780 |
| Alagille Syndrome 2 |
|
Atrial septal defect, Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Cholesta... |
OMIM:610205 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
| Autosomal Recessive Robinow Syndrome |
|
Scoliosis, Open bite, Broad thumb, Downturned corners of mouth, Elbow dislocation, Split hand, Br... |
ORPHA:1507 |
| Nager Syndrome |
|
Triphalangeal thumb, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Atresia of the ... |
ORPHA:245 |
| Meier-Gorlin Syndrome 3 |
|
Narrow mouth, Narrow chest, Birth length less than 3rd percentile, Micrognathia, Bronchomalacia, ... |
OMIM:613803 |
| Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... |
ORPHA:957 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Double outlet right ventricle, Increased susceptibility to fractures, Mitral valve p... |
ORPHA:371428 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Carious teeth, Narrow mouth, Downturned corners of mouth, Abnormal aortic arch morphology, Abnorm... |
ORPHA:1110 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Atresia of the external auditory canal, Laryngeal stridor, Oral cleft, Sensorineural hearing impa... |
ORPHA:2549 |
| Limb Body Wall Complex |
|
Short umbilical cord, Choanal atresia, Abnormal thorax morphology, Anencephaly, Aplasia/Hypoplasi... |
ORPHA:2369 |
| Cooper-Jabs Syndrome |
|
Scoliosis, Camptodactyly of finger, Anteverted nares, Ventricular septal defect, Conductive heari... |
ORPHA:1488 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Everted lower lip vermilion, P... |
OMIM:249670 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Fusion of gums, Diastema, Abnormality of the maxilla, Irregular dentition, Cleft lower lip, Cleft... |
ORPHA:401942 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... |
OMIM:615779 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Broad thumb, Ventricular septal defect, Coarctation of aorta, 2-3 toe synda... |
OMIM:600987 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Vascular dilatation, Wide nasal bridge, Hepatomegaly, Polycystic kidney dys... |
OMIM:614859 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Anal atresia, Short stature, B... |
ORPHA:1436 |
| Monosomy 5P |
|
Scoliosis, Finger syndactyly, Microretrognathia, Joint hyperflexibility, Low-set, posteriorly rot... |
ORPHA:281 |
| Nablus Mask-Like Facial Syndrome |
|
Long philtrum, Craniosynostosis, Narrow mouth, Short nose, Camptodactyly, Smooth philtrum, Abnorm... |
OMIM:608156 |
| Dysplastic Cortical Hyperostosis |
|
Abnormality of limb bone morphology, Polyhydramnios, Hydrops fetalis, Abnormal cortical bone morp... |
ORPHA:2204 |
| Gracile Bone Dysplasia |
|
Ankyloglossia, Brachydactyly, Slender long bone, Asplenia, Flared metaphysis, Hypoplastic spleen,... |
OMIM:602361 |
| Geroderma Osteodysplasticum |
|
Osteoporosis, Femoral bowing, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Beaking o... |
OMIM:231070 |
| Acrorenal Syndrome |
|
Abnormal renal morphology, Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of the... |
ORPHA:971 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Upper limb undergrowth, Hydrops fetalis, Thoracic hypoplasia, Pulmonary hypoplasi... |
OMIM:613124 |
| Acro-Renal-Mandibular Syndrome |
|
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, Congenital di... |
ORPHA:958 |
| Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Short umbilical cord, Camptodactyly, Patent ductus arteriosus, Patent foramen ova... |
OMIM:256520 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Syndactyly, Micropenis, Brachydactyly |
OMIM:615983 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormality of the antihelix, Mandibular prognathia, Broad hallux phalanx, Aplasia/Hypoplasia of ... |
ORPHA:3082 |
| Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis... |
OMIM:614188 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the ribs, Abnormality of the antihelix, Craniosynostosis, Short nose, Oligohydramn... |
ORPHA:2145 |
| Pseudoaminopterin Syndrome |
|
Clubbing of fingers, Hip subluxation, Postaxial polydactyly, Oral cleft, Clinodactyly of the 5th ... |
ORPHA:221120 |
| 22Q11.2 Deletion Syndrome |
|
Scoliosis, Small earlobe, Carious teeth, Abnormal dental enamel morphology, Polyhydramnios, Narro... |
ORPHA:567 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Atrial septal defect, Ventricular septal defect, Hepatic cysts, Duplic... |
OMIM:263630 |
| Neu-Laxova Syndrome |
|
Scoliosis, Polyhydramnios, Arthrogryposis multiplex congenita, Abnormality of the philtrum, Micro... |
ORPHA:2671 |
| Polydactyly, Postaxial, Type A1 |
|
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb |
OMIM:174200 |
| Hajdu-Cheney Syndrome |
|
Scoliosis, Wormian bones, Hypoplastic 5th lumbar vertebrae, Thin vermilion border, Open bite, Nar... |
ORPHA:955 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Cleft palate, Hypoplasia of the epiglottis, Syndactyly, Broad nasal tip... |
OMIM:300484 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Ear-Patella-Short Stature Syndrome |
|
Anotia, Craniosynostosis, Narrow mouth, Elbow dislocation, Atresia of the external auditory canal... |
ORPHA:2554 |
| Focal Dermal Hypoplasia |
|
Enamel hypoplasia, Aniridia, Scoliosis, Oligodontia, Short metatarsal, Congenital hip dislocation... |
OMIM:305600 |
| Melorheostosis |
|
Lymphedema, Atypical scarring of skin, Ectopic ossification in muscle tissue, Upper limb asymmetr... |
ORPHA:2485 |
| Mucopolysaccharidosis, Type Ivb |
|
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Mandibular prognathia, Ovoid vert... |
OMIM:253010 |
| Ring Chromosome 21 Syndrome |
|
Scoliosis, Azoospermia, Abnormal heart morphology, Holoprosencephaly, Narrow palm, Abnormal thora... |
ORPHA:1445 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... |
OMIM:618469 |
| Pentalogy Of Cantrell |
|
Scoliosis, Atrial septal defect, Abnormality of tibia morphology, Ventricular septal defect, Spli... |
ORPHA:1335 |
| 3P25.3 Microdeletion Syndrome |
|
Scoliosis, Broad thumb, Downturned corners of mouth, Mandibular prognathia, Pyloric stenosis, Pat... |
ORPHA:435638 |
| Otopalatodigital Syndrome Type 1 |
|
Oligodontia, Elbow dislocation, Hypoplastic frontal sinuses, Abnormality of the metacarpal bones,... |
ORPHA:90650 |
| Iniencephaly |
|
Polyhydramnios, Arthrogryposis multiplex congenita, Narrow mouth, Spinal dysraphism, Omphalocele,... |
ORPHA:63259 |
| Charge Syndrome |
|
Scoliosis, Polyhydramnios, Abnormality of tibia morphology, Narrow mouth, Overfolded helix, Paten... |
ORPHA:138 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Wormian bones, Macroglossia, Congenital hip dislocation, Growth delay,... |
OMIM:614450 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Postaxial polysyndactyly of foot, Hydrops fetalis, Narrow chest, Horizontal ribs, Hamartoma of to... |
OMIM:263520 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal common car... |
ORPHA:449400 |
| Craniolenticulosutural Dysplasia |
|
Scoliosis, Delayed eruption of teeth, Carious teeth, Thin vermilion border, Long philtrum, Hypopl... |
ORPHA:50814 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Narrow mouth, Underdeveloped nasal alae, Postnatal growth retardation, Micrognathia, Contracture ... |
ORPHA:83617 |
| Temple Syndrome |
|
Scoliosis, Joint hypermobility, Short philtrum, Recurrent otitis media, Flexion contracture, Post... |
OMIM:616222 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Bulbous nose, Smooth philtrum, Thin upper lip vermilion, Widely-spaced incisors, Protruding ear, ... |
OMIM:618737 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Oligodontia, Conductive hearing impairment, Patent ductus arteriosus, Abnormality of the dentitio... |
ORPHA:2095 |
| Acrofacial Dysostosis 1, Nager Type |
|
Scoliosis, Atresia of the external auditory canal, Patent ductus arteriosus, Absent radius, Prema... |
OMIM:154400 |
| Rubinstein-Taybi Syndrome 1 |
|
Enamel hypoplasia, Joint hypermobility, Scoliosis, Polyhydramnios, Broad thumb, Joint laxity, Nar... |
OMIM:180849 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Scoliosis, Inflammation of the large intestine, Osteolysis, Abnormal vertebral morphology, Abnorm... |
ORPHA:324964 |
| Feingold Syndrome Type 1 |
|
Patent ductus arteriosus, Vesicoureteral reflux, Short thumb, Multiple muscular ventricular septa... |
ORPHA:391641 |
| Prieto X-Linked Mental Retardation Syndrome |
|
Osteoporosis, Patellar subluxation, Abnormality of the dentition, Radial deviation of finger, Low... |
OMIM:309610 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Cutaneous syndactyly of toes, Contracture of the proximal interphalang... |
ORPHA:2872 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Osteoporosis, Patellar subluxation, Finger clinodactyly, Abnormal number of incisors, Low-set ear... |
ORPHA:2958 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping fingers, Atrial septal defect, Ventricular septal defect, Preaxial polydactyly, Paten... |
OMIM:618142 |
| Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Craniosynostosis, Prominent nasal bridge, Hypoplasia of the maxilla |
OMIM:608432 |
| Mucolipidosis Type Iii |
|
Hyperlordosis, Large iliac wing, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... |
ORPHA:577 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Scoliosis, Joint hypermobility, Accelerated skeletal maturation, Craniosynostosis, Multiple joint... |
OMIM:245600 |
| Mucopolysaccharidosis Type 7 |
|
Scoliosis, Epiphyseal stippling, Hydrops fetalis, Enlarged thorax, Lymphedema, Abnormal pleura mo... |
ORPHA:584 |
| Branchioskeletogenital Syndrome |
|
Carious teeth, Craniosynostosis, Thin vermilion border, Downturned corners of mouth, Upper limb p... |
ORPHA:1299 |
| 15Q24 Microdeletion Syndrome |
|
Scoliosis, Joint laxity, Narrow mouth, Postnatal growth retardation, Congenital diaphragmatic her... |
ORPHA:94065 |
| Meckel Syndrome |
|
Urethral atresia, Postaxial hand polydactyly, Situs inversus totalis, Accessory spleen, Preaxial ... |
ORPHA:564 |
| Campomelic Dysplasia |
|
Polyhydramnios, Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Hydrocephalus, ... |
OMIM:114290 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Short nose, Ventricular septal defect, Intestinal malrotation, Omphalocel... |
ORPHA:2143 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
| Noonan Syndrome 3 |
|
Polyhydramnios, Shield chest, Patent ductus arteriosus, Hypoplastic nasal bridge, Patent foramen ... |
OMIM:609942 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Wide nasal bridge, Anal atresi... |
OMIM:309620 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Global systolic dysfunction, Widening of cervical spinal canal, Cervical vertebral bodies with de... |
OMIM:606842 |
| Thakker-Donnai Syndrome |
|
Narrow mouth, Downturned corners of mouth, Ventricular septal defect, Macrotia, Bulbous nose, Hem... |
ORPHA:1780 |
| Stickler Syndrome, Type I |
|
Scoliosis, Sensorineural hearing impairment, Mitral valve prolapse, Osteoarthritis, Depressed nas... |
OMIM:108300 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Abnormality of the antihelix, Elbow dislocation, Ma... |
ORPHA:2916 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus arteriosus, Thin ... |
OMIM:601927 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin vermilion border, Downturned corners of mouth, Postaxial polydactyly, Postnatal growth retar... |
OMIM:613792 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition, M... |
ORPHA:3270 |
| Fryns Microphthalmia Syndrome |
|
Abnormality of the vertebral column, Macrotia, Bilateral cleft lip and palate, Neural tube defect... |
OMIM:600776 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication of the phalanx ... |
OMIM:616331 |
| Grant Syndrome |
|
Open bite, Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility,... |
ORPHA:2097 |
| Trisomy 8P |
|
Short fifth metatarsal, Thin vermilion border, Malrotation of small bowel, 3-4 finger cutaneous s... |
ORPHA:264450 |
| Meier-Gorlin Syndrome 5 |
|
Small earlobe, Long philtrum, Elbow dislocation, Prominent metopic ridge, Delayed skeletal matura... |
OMIM:613805 |
| Robinow Syndrome |
|
Scoliosis, Dental crowding, Short distal phalanx of finger, Hemivertebrae, Oral cleft, Triangular... |
ORPHA:97360 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Broad thumb, Toe syndactyly, Underdeveloped nasal alae, Stapes ankylosis, Conductive hearing impa... |
OMIM:184460 |
| Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Omphalocele, Anencephaly, Micrognathia, Median cleft lip, Postaxial hand polydact... |
OMIM:236680 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... |
ORPHA:1909 |
| Aminopterin Syndrome Sine Aminopterin |
|
Oligodontia, High palate, Umbilical hernia, Low-set ears, Rudimentary postaxial polydactyly of ha... |
OMIM:600325 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Disproportionate short stature, Short thorax, Narrow... |
ORPHA:1801 |
| Classical Ehlers-Danlos Syndrome |
|
Scoliosis, Cigarette-paper scars, Pulp calcification, Joint swelling, Abnormal heart valve physio... |
ORPHA:287 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Short philtrum, Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal ... |
ORPHA:163966 |
| Frontorhiny |
|
Scoliosis, Camptodactyly of finger, Midline nasal groove, Finger clinodactyly, Low-set, posterior... |
ORPHA:391474 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Scoliosis, Narrow mouth, Dental crowding, Mandibular prognathia, Camptodactyly, Premature birth, ... |
OMIM:300998 |
| Nevus Comedonicus Syndrome |
|
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... |
ORPHA:64754 |
| Carpenter Syndrome |
|
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... |
ORPHA:65759 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Abnormality of cartilage of external ear, Recurrent upper respiratory tract infections, Bilateral... |
ORPHA:2399 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Conductive hearing impairment, Wide nasal bridge, Stenosis of the exte... |
ORPHA:1513 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Thoracic h... |
ORPHA:254534 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Hydroureter, Recurrent urinary tract infections, Patent ductus arteri... |
ORPHA:2970 |
| 1P36 Deletion Syndrome |
|
Scoliosis, Narrow mouth, Patent ductus arteriosus, Sensorineural hearing impairment, Joint stiffn... |
ORPHA:1606 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Intestinal malrotation, Pancreatic hypoplasia, Microcolon, Pulmonary ar... |
OMIM:600001 |
| Microphthalmia, Syndromic 2 |
|
Scoliosis, Oligodontia, Asymmetry of the ears, Patent ductus arteriosus, Sandal gap, Hammertoe, D... |
OMIM:300166 |
| Fanconi Anemia |
|
Scoliosis, Patent ductus arteriosus, Choanal atresia, High palate, Triphalangeal thumb, Micrognat... |
ORPHA:84 |
| Rapp-Hodgkin Syndrome |
|
Narrow mouth, Underdeveloped nasal alae, Small, conical teeth, Recurrent otitis media, Hypodontia... |
OMIM:1 |
