Cartilage-hair hypoplasia

Definition

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

Also known as autosomal recessive metaphyseal chondrodysplasia, cartilage hair hypoplasia, cartilage-hair hypoplasia, McKusick Type Metaphyseal Chondrodysplasia, metaphyseal chondrodysplasia, McKusick type — per MONDO

Also identified as

• DOID 14773 per MONDO
• MESH C535916 per MONDO
• NCIT C61245 per MONDO
• OMIM 250250 per MONDO
• Orphanet 175 per MONDO
• SCTID 7720002 per MONDO
• UMLS C0220748 per MONDO