hereditary disease lethal recessive chondrodysplasia https://github.com/monarch-initiative/mondo/issues/6877 https://rarediseases.info.nih.gov/diseases/1294/chondrodysplasia-lethal-recessive https://www.malacards.org/card/lethal_recessive_chondrodysplasia MEDGEN:930414 UMLS:C4304745 MONDO:0015425 GARD:0003399 chondrodysplasia lethal recessive icd11.foundation:550352998 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. SCTID:719404009 Maroteaux-Stanescu-Cousin syndrome Orphanet:1423 chondrodysplasia