6 articles
Brachydactyly of fingers
Brachydactyly of fingers: inherited shortening of finger bones (phalanges, metacarpals), classified Bell/Temtamy-McKusick types A-E with genes IHH, BMPR1B, ROR2, GDF5, HOXD13; usually cosmetic, rarely treated.
Laurin-Sandrow syndrome
Laurin-Sandrow syndrome (Sandrow syndrome, tetramelic mirror-image polydactyly, OMIM 135750) is an extremely rare autosomal dominant congenital disorder with polysyndactyly of the hands, mirror feet, nasal defects, and ulnar/fibular duplication, caused by ZRS microduplications on 7q36.3.
Madelung deformity
Madelung deformity, also called Madelung's deformity, is a congenital wrist deformity from premature arrest of the volar-ulnar distal radial physis, marked by the Vickers ligament and linked to SHOX deficiency and Léri-Weill dyschondrosteosis.
Polydactyly of the thumb
Polydactyly of the thumb (thumb duplication, radial or preaxial polydactyly): congenital duplication of the thumb, incidence 0.08–1.4 per 1000 births, classified by the Wassel-Flatt system, treated surgically with a 7–28% reoperation rate.
Syndactyly type 2
Syndactyly type 2, or synpolydactyly (SPD, Vordingborg type), a rare autosomal dominant non-syndromic limb malformation combining 3/4 finger and 4/5 toe webbing with duplicated digits in the web; SPD1 caused by HOXD13 polyalanine expansions, SPD2 by FBLN1, SPD3 mapped to 14q11.2-q13.
Syndactyly type 6
Syndactyly type 6 (mitten-type syndactyly, ORPHA:295012) is a rare non-syndromic congenital digit fusion: unilateral fusion of fingers 2-5 with knot-like distal phalanges and 2nd-3rd toe fusion; inheritance listed as autosomal dominant or unknown.