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Brachydactyly type B2
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Disease definition
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.
ORPHA:140908
A summary on this disease is available in
Français (2018)
Español (2018)
Deutsch (2018)
Italiano (2018)
Nederlands (2018)
Polski (2024)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
Newborn screening
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