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Trichorhinophalangeal Syndrome Type III

Abstract

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Synonyms of Trichorhinophalangeal Syndrome Type III

  • Sugio-Kajii Syndrome
  • TRPS3

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Trichorhinophalangeal syndrome type III (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by fine, thin light-colored hair; unusual facial features; abnormalities of the fingers and/or toes; and multiple abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a pear-shaped or rounded (bulbous) nose; an abnormally long prominent groove (philtrum) in the upper lip; and/or abnormalities such as delayed eruption of teeth. In addition, affected individuals also exhibit severe shortening of the fingers and toes (brachydactyly) due to improper development of bones in the hands and feet (metacarpophalangeal shortening). Additional features often include short stature (dwarfism) and/or additional skeletal abnormalities. The range and severity of symptoms may vary from case to case. TRPS3 is thought to have autosomal dominant inheritance.

Organizations related to Trichorhinophalangeal Syndrome Type III

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., short stature, bone abnormalities, etc.])

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