Fibular hypoplasia and complex brachydactyly

From WikiMD's Wellness Encyclopedia

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]

Autosomal recessive inheritance, a 25% chance

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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