3MC SYNDROME 1
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(OMIM:257920)
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3MC SYNDROME 2
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(OMIM:265050)
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48,XXXY syndrome
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(Orphanet:96263)
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48,XXYY syndrome
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(Orphanet:10)
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49,XXXXY syndrome
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(Orphanet:96264)
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ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
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(OMIM:201750)
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ARMS, MALFORMATION OF
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(OMIM:107900)
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Abruzzo-Erickson syndrome
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(Orphanet:921)
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Acrofacial dysostosis, Rodriguez type
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(Orphanet:1788)
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Blepharophimosis - radioulnar synostosis
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(Orphanet:1256)
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CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION
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(OMIM:601088)
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Cenani-Lenz syndrome
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(Orphanet:3258)
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Cornelia de Lange syndrome
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(Orphanet:199)
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Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis
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(Orphanet:171839)
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Desbuquois syndrome
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(Orphanet:1425)
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EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1
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(OMIM:130070)
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Ehlers-Danlos syndrome, progeroid type
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(Orphanet:75496)
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Eye defects - arachnodactyly - cardiopathy
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(Orphanet:2725)
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Femoral-facial syndrome
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(Orphanet:1988)
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Genitopatellar syndrome
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(Orphanet:85201)
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Holt-Oram syndrome
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(Orphanet:392)
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Humero-radio-ulnar synostosis
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(Orphanet:3266)
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Hypoplastic tibiae - postaxial polydactyly
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(Orphanet:3332)
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IVIC syndrome
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(Orphanet:2307)
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Juberg-Hayward syndrome
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(Orphanet:2319)
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Lacrimo-auriculo-dento-digital syndrome
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(Orphanet:2363)
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Larsen-like syndrome, B3GAT3 type
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(Orphanet:284139)
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Marden-Walker syndrome
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(Orphanet:2461)
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Mesomelic dwarfism, Nievergelt type
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(Orphanet:2633)
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Nager syndrome
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(Orphanet:245)
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Noonan syndrome
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(Orphanet:648)
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OSLAM syndrome
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(Orphanet:2760)
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Oculofaciocardiodental syndrome
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(Orphanet:2712)
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Ophthalmomandibulomelic dysplasia
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(Orphanet:2741)
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PHAVER syndrome
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(Orphanet:2876)
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Pentasomy X
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(Orphanet:11)
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Phocomelia - ectrodactyly - deafness - sinus arrhythmia
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(Orphanet:2878)
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Postaxial acrofacial dysostosis
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(Orphanet:246)
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Progressive non-infectious anterior vertebral fusion
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(Orphanet:2062)
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Proximal radioulnar synostosis
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(Orphanet:3269)
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Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
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(Orphanet:71289)
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Radio-ulnar synostosis - intellectual deficit - hypotonia
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(Orphanet:3270)
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Roberts syndrome
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(Orphanet:3103)
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Saethre-Chotzen syndrome
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(Orphanet:794)
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Schinzel-Giedion syndrome
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(Orphanet:798)
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Synostosis - microcephaly - scoliosis
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(Orphanet:3268)
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Temtamy preaxial brachydactyly syndrome
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(Orphanet:363417)
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Tetrasomy X
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(Orphanet:9)
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VACTERL/VATER association
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(Orphanet:887)
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WT limb-blood syndrome
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(Orphanet:3466)
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Williams syndrome
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(Orphanet:904)
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Wolf-Hirschhorn syndrome
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(Orphanet:280)
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