Preferred Label : Trichorhinophalangeal syndrome type 1 and 3;
ICD-11 definition : 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.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.;
Origin ID : 112146379;
Automatic exact mappings (from CISMeF team)
- Manual BTNT mappings - CISMeF
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.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.
