| children | - Absent radius, anogenital anomalies syndrome 771264005
- Acrodysostosis 66758006
- Acrodysplasia scoliosis 773773006
- Acrofacial dysostosis Catania type 720419000
- Acrofacial dysostosis Kennedy Teebi type 720427009
- Acrofacial dysostosis Palagonia type 720429007
- Acrofacial dysostosis Rodriguez type 720430002
- Acropectorovertebral dysplasia 720457000
- Ankylosing vertebral hyperostosis with tylosis syndrome 720492008
- Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome 1187115008
- Autosomal dominant spondylocostal dysostosis 716232002
- Bipartite talus 763128009
- Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000
- Camptodactyly and tall stature with scoliosis and hearing loss syndrome 720601000
- Carney complex, trismus, pseudocamptodactyly syndrome 766881008
- Catel Manzke syndrome 722383001
- Cerebro-costo-mandibular syndrome 51780007
- Cerebro-facio-thoracic dysplasia 720635002
- Congenital hypoplasia of ulna and intellectual disability syndrome 719842006
- Coxopodopatellar syndrome 720752007
- Dysostosis of bone of skull 128219005
- Ectrodactyly polydactyly syndrome 771177009
- Endocrine-cerebro-osteodysplasia syndrome 723309006
- Eye defects, arachnodactyly, cardiopathy syndrome 1208342001
- Femur fibula ulna complex 1230098009
- Fibular aplasia and ectrodactyly syndrome 720952001
- Filippi syndrome 720954000
- Fuhrmann syndrome 721296004
- Guttmacher syndrome 722452004
- Hallux varus, preaxial polysyndactyly syndrome 771180005
- Heart-hand syndrome Slovenian type 721014007
- Heart-hand syndrome type 2 721010003
- Heart-hand syndrome type 3 721013001
- Holt-Oram syndrome 19092004
- Imperforate oropharynx, costovertebral anomalies syndrome 771185000
- Ischio-vertebral syndrome 715654001
- Jarcho-Levin syndrome 61367005
- Karsch Neugebauer syndrome 722032005
- Klippel-Feil sequence 5601008
- Long thumb brachydactyly syndrome 733454004
- Mandibuloacral dysostosis 109419009
- Mandibulofacial dysostosis with alopecia 1216943004
- Melhem Fahl syndrome 732263008
- Morava Mehes syndrome 719843001
- Nail-patella syndrome 22199006
- Oculootoradial syndrome 722019000
- Oliver syndrome 721017000
- Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome 722211006
- Patterson Stevenson Fontaine syndrome 724069009
- Pelvic dysplasia, arthrogryposis of lower limbs syndrome 783140003
- Pelvis shoulder dysplasia 719298001
- Pelviscapular dysplasia 719299009
- Peripheral dysostosis 773985008
- Postaxial tetramelic oligodactyly 770946000
- Progressive non-infectious anterior vertebral fusion 719268008
- Radial deficiency, tibial hypoplasia syndrome 783137003
- Splenogonadal fusion, limb defect, micrognathia syndrome 726724005
- Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome 723610009
- Sugarman brachydactyly 1187132007
- Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome 783553008
- Syndactyly, polydactyly, ear lobe syndrome 783700001
- Tall stature, scoliosis, macrodactyly of great toe syndrome 770788000
- Teebi Shaltout syndrome 771265006
- Temtamy preaxial brachydactyly syndrome 777998000
- Tetramelic monodactyly 770945001
- Thrombocythemia with distal limb defect 771511005
- Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome 764857004
- X-linked mandibulofacial dysostosis 719813003
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