trichorhinophalangeal syndrome

Genetics

• genetically heterogeneous
• associated with defects in Trps1, EXT2

More general terms

• genetic syndrome (multisystem disorder)

More specific terms

• trichorhinophalangeal syndrome type 1
• trichorhinophalangeal syndrome type 2 (Langer-Giedion syndrome)
• trichorhinophalangeal syndrome type 3