Trichorhinophalangeal Syndrome

Also known as

  • TRPS

Trichorhinophalangeal Syndrome is a genetic disorder found in one in every 100,000 people globally. This conditions causes hypermobility in all of the joints in the body; this then causes the person with TRPS to have pain in their joints. It gets it's name from how it effects hair growth (tricho), nasal structure (rhino) and the hands (phalangeal). Currently, there is little to no research on the condition due to a lack of funding.

Condition details

Definining characteristics of TRPS include abnormalities in skeleton and hypermobility in the joints. TRPS can also cause issues with learning and childhood development, weak pelvises, curvature in the fingers and smaller sinuses. It is also not common for those with TRPS to have over lapping toes on one or both of their feet. Masses can also develop over bones, due to complication with bone marrow. Effects of TRPS can vary depending on the variation of TRPS. There are three different types, with Type 3 being the most severe of them. Often those with Type 3 have more severe difficulties with their development and have learning difficulties.

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Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

Inheritance patterns

Is Autosomal dominant

Inherited from parents that have the condition themselves.

Are carriers affected?

TRPS can not be genetically carried. A person can only inherit if their parents have the condition.

How many are affected?

1 in 100,000

Support groups and organisations

TRPS Support Group UK
7 Stallingborough Road
Keelby
Grimsby
North East Lincolnshire
DN41 8JA
England
Tel 01469 569581
Facebook

Known experts

Dr Adam Shaw
Field of interestClinical Lecturer and Honorary Consultant in Clini
Institute of Child Health
30 Guildford Street
London
WC1N 1EH
England
Tel 0207 905 2875
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