Thanatophoric dysplasia

Definition

A primary bone dysplasia with micromelia characterized by macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.

Also known as FGFR3-related thanatophoric dysplasia, TD, thanatophoric dwarfism — per MONDO

Also identified as

• DOID 13481 per MONDO
• ICD9 259.4 per MONDO
• MESH D013796 per MONDO
• NCIT C85187 per MONDO
• Orphanet 2655 per MONDO
• SCTID 29352008 per MONDO
• UMLS C0039743 per MONDO