8 top medical experts on Type III Trichorhinophalangeal Syndrome across 1 countries. This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Type III Trichorhinophalangeal Syndrome: Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder.TRPS3 is characterized by short stature , sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).The range and severity of symptoms may vary from case to case.TRPS3 is caused by mutations in the TRPS1 gene which is localized to 8q24.12 .TRPS3 is inherited in an autosomal dominant manner.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Synonyms: Sugio-Kajii Syndrome
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