Upper Limb Mesomelic Dysplasia

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

JAG1, EXOC6B, RPL26, SHOX, TBX3, XRCC2, ZBTB16, GDF5, RECQL4, CHST3, CUL7, MAD2L2, OBSL1, APC, UBE2T, PIGT, FANCL, RFWD3, FANCI, SALL4, FANCM, PALB2, CCDC8, BRIP1, RAD51C, RAD51, PRKAR1A, PDE4D, B2M, BMPR1B, BRCA1, BRCA2, COL2A1, DHODH, ERCC4, EXT1, EXT2, FANCA, FANCC, FANCD2, FANCE, FANCB, FANCF, FANCG, FGF10, FGFR3, FGFR2, IHH, LRP4, SLX4

Drugs

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This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.