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Trichorhinophalangeal syndrome type 1 and 3

Synonym(s) -
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Infancy
  • Q87.1
MeSH -
MedDRA -


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.


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.


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.

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