Uniprot Description Rare autosomal recessive condition characterized by absence of the fibulae and severe acromesomelic limb shortening with small, non-functional toes. Although milder, the phenotype resembles the autosomal recessive Hunter-Thompson and Grebe types of acromesomelic chondrodysplasia.
Disease Ontology Description An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly.
Mondo Term and Equivalent IDs
MONDO:0009231: fibular hypoplasia and complex brachydactyly