autosomal recessive disease rhizomelic chondrodysplasia punctata ICD10CM:E71.540 A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. DOID:2580 UMLS_CUI:C0282529 OMIM mapping confirmed by DO. [SN]. SNOMEDCT_US_2020_03_01:56692003 MESH:D018902 Chondrodysplasia Punctata, Rhizomelic Form OMIM:PS215100 GARD:13160 ORDO:177 NCI:C85047 disease_ontology chondrodysplasia punctata