Trichorhinophalangeal syndrome type 1 and 3 (Q83146)

Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterised by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalised shortening of all phalanges, metacarpals and metatarsal bones. TRPS types 1 and 3 are variants of a single disease, type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. They can be distinguished from type 2 trichorhinophalangeal syndrome by the lack of intellectual deficit and exostoses.