Fibular hypoplasia and complex brachydactyly
Alternate names[edit | edit source]
Du pan syndrome
Definition[edit | edit source]
A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly.
Epidemiology [edit | edit source]
Less than 30 cases have been described in the literature so far.
Cause[edit | edit source]
It is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (WCDMP1).
Inheritance[edit | edit source]
The syndrome is inherited in an autosomal recessive manner.
NIH genetic and rare disease info[edit source]
Fibular hypoplasia and complex brachydactyly is a rare disease.
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