Orthopedics > OCOSH Classification > Hand Disorders and Deformities > Congenital Hand Deformities > Failure of formation of parts > Cleft Hand > Split Hand Foot Malformation with sensorimotor hearing loss OMIM
Previous
Split Hand Foot Malformation with sensorimotor hearing loss OMIM
Visit Resource Review It Rate It Bookmark It
Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220600
Description: %220600 SPLIT-HAND/FOOT MALFORMATION WITH SENSORINEURAL HEARING LOSS
Alternative titles;
SHFM1D DEAFNESS, CONGENITAL, AND SPLIT HANDS AND FEET
Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals.
Wildervanck (1963) observed the association of split-hand/foot malformation with sensorineural hearing loss in 2 sons of unrelated parents. Birch-Jensen (1949) mentioned a sporadic case of the association, and Fraser (1976) reported a brother and sister with this combination.
Type: Reference Material
Author/Contact: Victor A. McKusick
Institution: OMIM
Primary Subject/Category:
Submitted by: admin
Hits: 664
Added: Sat Aug 08 2009