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

Padre e hija con Sindrome Tricorinofalngico

by Eadsera published about 1 month ago

Nacido en 1970. Varón. De pequeño poco pelo, rubio y frágil. Gateo a los 12 meses y empiezo a andar a los 15 meses. Dificultades en la psicomotrici...

My Nephew and Brother

by Jennescence published 7 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 ...

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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.