Fibular aplasia-complex brachydactyly syndrome

A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (<i>WCDMP1</i>).

Brachydactyly

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

Total: 3

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PMID (PMCID)
9571482	MIXED_SAMPLE	Infant, Newborn
	The surgical management of the upper extremity anomalies associated with Du Pan syndrome.
	Lees VC, Hersh JH, Scheker LR. J Hand Surg Br. 1998;23(1):57-61.
	Du Pan syndrome is a rare condition comprising complex brachydactyly with fibular hypoplasia that is inherited in an autosomal recessive manner.
2363425	MIXED_SAMPLE
	Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred.
	Ahmad M, Abbas H, Wahab A, Haque S. Am J Med Genet. 1990;36(3):292-6.
	A Pakistani kindred comprising 7 generations contained 7 men and 2 women with fibular hypoplasia and complex brachydactyly (syn: Du Pan syndrome).
2363425	MIXED_SAMPLE
	Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred.
	Ahmad M, Abbas H, Wahab A, Haque S. Am J Med Genet. 1990;36(3):292-6.
	Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred.