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Trichorhinophalangeal syndrome type 1 and 3

Orpha number ORPHA77258
Synonym(s) -
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q87.1
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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. 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. Transmission of trichorhinophalangeal syndrome type 1 and 3 is autosomal dominant, linked to mutations in the TPRS1 gene localised to 8q24.12. Treatment is symptomatic. Plastic surgery may be proposed.


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