Trichorhinophalangeal Syndrome Type III

Vital
It is possible that the main title of the record Trichorhinophalangeal Syndrome Type III is not the name you anticipated. Kindly check the basic synonyms specifying to discover the alternative name(s) and also condition subdivision(s) covered by this rating.

Synonyms

  • TRPS3
  • Sugio-Kajii Syndrome

Condition Class

  • None

General Discussion
Trichorhinophalangeal disorder type III (TRPS3), additionally known as Sugio-Kajii disorder, is a very unusual acquired multisystem problem. TRPS3 is defined by penalty, thin light-colored hair; unusual facial functions; problems of the fingers and/or toes; as well as a number of problems of the “expanding ends” (epiphyses) of the bones (skeletal dysplasia), specifically in the hands as well as feet. Particular face features might include a pear-shaped or spherical (spheric) nose; an unusually lengthy popular groove (philtrum) in the upper lip; and/or problems such as delayed eruption of teeth. Furthermore, affected people likewise display extreme reducing of the fingers and toes (brachydactyly) because of inappropriate advancement of bones in the hands as well as feet (metacarpophalangeal shortening). Extra functions often include short stature (dwarfism) and/or extra skeletal problems. The range and also extent of signs and symptoms could vary from situation to case. TRPS3 is believed to have autosomal dominant inheritance.

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