Cartilage-hair hypoplasia (CHH) variant of familial metaphyseal dysostosis.
D000130:Achondroplasia / Q000175:diagnosis*; D001847:Bone Diseases / Q000235:genetics*; D002356:Cartilage / Q000002:abnormalities*; D002648:Child; D003937:Diagnosis, Differential; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis*