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

More general terms

• acromesomelic chondrodysplasia
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/228900