Trichorhinophalangeal Syndrome Type II

It is possible that the primary title of the record Trichorhinophalangeal Syndrome Type II is not the name you anticipated. Kindly examine the words listing to find the alternating name(s) and also disorder neighborhood(s) covered by this report.

Basic synonyms

  • Langer Giedion Disorder
  • TRPS2

Condition Class

  • None

General Conversation
Trichorhinophalangeal disorder type II (TRPS2), likewise referred to as Langer-Giedion disorder, is a very unusual acquired multisystem problem. TRPS2 is characterized by penalty, thin hair; uncommon facial attributes; dynamic development retardation causing short stature (dwarfism); abnormally brief fingers and also toes (brachydactyly); “conical” development of the “expanding ends” of certain bones (epiphyseal coning); and/or growth of numerous bony growths (exostoses) predicting outward from the areas of various bones of the physical body. Additionally, influenced individuals may display unusually flexible (hyperextensible) joints, decreased muscle mass tone (hypotonia), excess folds of skin (redundant skin), and/or stained raised areas on the skin (maculopapular nevi). Affected people might additionally show mild to serious dementia, hearing loss (sensorineural deafness), and/or delayed speech development. The array and seriousness of signs and symptoms varies greatly from case to situation. TRPS2 is due to the absence of genetic material (chromosomal deletions) on chromosome 8. The size of the removal varies from instance to case.

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