Search for a rare disease
Other search option(s)
Trichorhinophalangeal syndrome type 1 and 3
Disease 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.
ORPHA:77258
Summary
Epidemiology
So far, more than 100 cases have been described in the literature.
Clinical description
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 (see this term) by the lack of intellectual deficit and exostoses.
Etiology
TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12.
Genetic counseling
Transmission of trichorhinophalangeal syndrome type 1 and 3 is autosomal dominant.
Management and treatment
Treatment is symptomatic. Plastic surgery may be proposed.
Detailed information
Article for general public
Professionals
- Clinical genetics review
- English (2017)
Additional information