mesomelic dwarfism-cleft palate-camptodactyly syndrome
Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized 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.
MONDO:0002254
syndromic disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0018230
skeletal dysplasia
is_a
Reardon-Hall-Slaney syndrome
exact
mesomelic dwarfism cleft palate camptodactyly
related
mesomelic dysplasia, Kozlowski-Reardon type
exact
mesomelic dysplasia, Reardon type
exact
mesomelic limb shortening and bowing
related