Trichorhinophalangeal syndrome type 3

Disease Overview

Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder.[2049] TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).[2050][2051] The range and severity of symptoms may vary from case to case.[2049] TRPS3 is caused by mutations in the TRPS1 gene which is localized to 8q24.12.[2050] TRPS3 is inherited in an autosomal dominant manner.[2049][2050] 

Synonyms

• TRPS 3
• Sugio-Kajii Syndrome