brachydactylie type B2 (aandoening)
brachydactylie type B2
Brachydactyly type B2
A rare genetic congenital limb malformation disorder with characteristics of 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. There is evidence this disease is caused by mutations in the bone morphogenetic protein antagonist Noggin (NOG).
Associated morphologyankylose
Finding sitestructuur van interfalangeaal gewricht
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map140908
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q73.8
CorrelationSNOMED CT source code to target map code correlation not specified