Search for a rare disease
Other search option(s)
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.
ORPHA:2631Classification level: Disorder