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.
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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.