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

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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RareConnect is a patient-led initiative. Patient organisations partner with EURORDIS, itself an international patient organisation, to create communities and provide moderators from within their network. The following patient groups are official partners of this community.