Gene: [02q37/BDMR] brachydactyly-mental retardation syndrome; Albright hereditary osteodystrophy, type 3; brachydactyly, type E (MIM:113300);

COM

Wilson-1995 found a cytogenetically visible de novo deletion of 2q37 in 4 patients in whom brachydactyly type E was combined with mental retardation to produce a picture simulating Albright hereditary osteodystrophy. A fifth patient, who was cytogenetically normal, was found to have a microdeletion at 2q37. It is likely that these patients suffered from a contiguous gene syndrome involving the locus for brachydactyly type E and one or more other loci."

PAT

In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. The patients are moderately short of stature and have round facies but do not have ectopic calcification (or ossification), mental retardation or cataract."

REL

GEM:12q24/BDC.

REF

ABR,LOC "Phelan MC &: Am J Med Genet, 58, 1-7, 1995
ABR,LOC "Wilson LC &: AJHG, 56, 400-407, 1995

KEY

bone, neu, devd

CLA

unknown, basic

LOC

02 q37

MIM

MIM: 600430