An autosomal recessive bone dysplasia syndrome resembling hypochondroplasia.
D000293:Adolescent; D001132:Arm / Q000000981:diagnostic imaging; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D007866:Leg / Q000000981:diagnostic imaging; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging