What is TRPS?
Trichorhinophalangeal Syndrome is a genetic condition caused by a change in the genetic make-up of the developing embryo. This person may be the first in their family with TRPS or sometimes it can be traced back through several generations. In some people, the genetic alteration may be a change in a gene called TRPS1 which is found on chromosome 8. In others, the whole gene may be missing. In TRPS II, a small piece of chromosome 8 is usually missing, including the gene TRPS1 and also another gene called EXT1, which accounts for the exotoses that develop.
TRPS types: I, II and III.
Features common to all three types:
- Slow growth and short stature as an adult (but within the normal range)
- Sparse and slow-growing hair, usually light in colour
- Prominent tip of the nose
- Protruding ears
- Fingers and toes may be short and crooked
- Problems with the bones and joints which may appear as congenital hip problems, Perthes disease of the hip, and early-onset of osteo-arthritis. Almost any joint may be affected.
Type II (previously known as Langer-Gideon Syndrome):
- Presence of exostoses, or lumps, that grow on the bones. These are benign but can cause pain and limitation of movement as they press on surrounding muscles and ligaments.
- Often accompanied by learning difficulties and delayed development.
- Very rare
- Short fingers and toes
- Limited stature
Many people with TRPS comment on the similarity in their appearance. The condition can be mild through to severe making a precise diagnosis difficult without genetic screening. A multi-disciplinary approach to care is needed.