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Du pan syndrome (fibular hypoplasia & complex brachydactyly)
Epidemiology: rare
Genetics:
- autosomal recessive
- associated with defects in GDF5
Clinical manifestations:
- absence of the fibulae & severe acromesomelic limb shortening with small, non-functional toes
- milder than other forms of acromesomelic chondrodysplasia
General
acromesomelic chondrodysplasia
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 228900
References
OMIM :accession 228900