Fibular hypoplasia and complex brachydactyly

From WikiMD's Medical Encyclopedia

Alternate names[edit]

Du pan syndrome

Definition[edit]

A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly.

Epidemiology [edit]

Less than 30 cases have been described in the literature so far.

Cause[edit]

It is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (WCDMP1).

Inheritance[edit]

Autosomal recessive inheritance, a 25% chance

The syndrome is inherited in an autosomal recessive manner.

NIH genetic and rare disease info[edit]

Fibular hypoplasia and complex brachydactyly is a rare disease.

Rare and genetic diseases

Rare diseases - Fibular hypoplasia and complex brachydactyly

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