lethal recessive chondrodysplasia
Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.
MONDO:0003847
hereditary disease
is_a
MONDO:0022723
chondrodysplasia
is_a
Maroteaux-Stanescu-Cousin syndrome
exact
chondrodysplasia lethal recessive
exact