Welcome - Trichorhinophalangeal syndrome (TRPS) Community

What is Trichorhinophalangeal syndrome (TRPS) ?

Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.

Langer-Giedon syndrome or trichorhinophalangeal syndrome type 2 is characterized by the association of intellectual deficit and numerous other anomalies including redundant skin, multiple cartilaginous exostoses, characteristic facies and cone-shaped phalangeal epiphyses. The severity and number of these malformations varies between patients.

Source: Orphanet 

Trichorhinophalangeal syndrome (TRPS) Resources

More members stories

Latest Member Stories

My Nephew and Brother

by Jennescence published 5 months ago
One comment

My nephew was just diagnosed with Trichorhinophalangeal Syndrome type 1 and my brother is undiagnosed but I'm pretty sure he has it. I just joined ...

My Life

by dezgurl75 published 9 months ago
5 comments

I am looking for other people who have the same genetic condition. I have learned a lot about it. Which is good when seeing a new doctor. I am luc...

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