Trichorhinophalangeal syndrome

What is Trichorhinophalangeal syndrome?

Trichorhinophalangeal syndrome is a very rare, inherited genetic syndrome that affects multiple parts of the body.

The main features and symptoms of the syndrome are craniofacial and skeletal abnormalities.

What gene changes cause Trichorhinophalangeal syndrome?

Mutations to the TRPS1 gene on chromosome 8 are known to cause the syndrome. The syndrome is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

A few cases of the symptom have been identified as the result of a new gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Trichorhinophalangeal syndrome?

The main symptoms, which may vary in their severity between individuals, include hypermobility and abnormalities relating to the bones and joints.

Physical conditions of the syndrome include problems affecting the skin, hair, teeth, nails and sweat glands. Many individuals have sparse, scalp hair and by the time they reach puberty most males with the syndrome are completely bald.

Facial characteristics of the syndrome include a rounded nose, long, flat philtrum, a thin and long upper lip, large ears, small lower jaw, thin eyebrows, sparse eyelashes, a triangular face and a short stature. A curving of the fifth finger is also common.

How does someone get tested for Trichorhinophalangeal syndrome?

The initial testing for Trichorhinophalangeal syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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