Brachydactyly type B2

Orpha code: 140908OMIM code: 611377

Definicja

A clinical subtype of brachydactyly type B characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.

Disease data
Klasyfikacja

Clinical subtype

Kod ORPHA
140908
Kod OMIM
611377
Kod ICD10
Q73.8
Kod ICD11
LD26.1

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl