Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome is an autosomal recessive disorder caused by mutations of the GDF5 gene. Its characterised by a rather complex brachydactyly and fibula aplasia.

Systematic

Brachydactyly
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type B1
Brachydactyly type B2
Brachydactyly type C
Brachydactyly type D
Brachydactyly type E1
Brachydactyly type E2
Brachydactyly types B and E combined
Brachydactyly-syndactyly
Fibular aplasia-complex brachydactyly syndrome
GDF5

References:

1.

Faiyaz-Ul-Haque M et. al. (2002) Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

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2.

Szczaluba K et. al. (2005) Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.

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3.

Douzgou S et. al. (2008) Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.

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4.

Ahmad M et. al. (1990) Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred.

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5.

Kohn G et. al. (1989) New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence.

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Update: Sept. 26, 2018