Alopecia - Metaphyseal Dysplasia

What is Alopecia - Metaphyseal Dysplasia?

Alopecia - Metaphyseal Dysplasia is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

There have only been two case reports to date and both had Italian parentage. Alopecia was complete and involved scalp and body hair. Stature was short but intelligence was normal. The nails were not commented on, and the teeth, although late in erupting, developed normally. One of the children (they were unrelated) had multiple joint contractures at birth, long fingers, hyperextensible distal interphalangeal joints, a beaked nose and bilateral epicanthic folds. Radiologically, the metaphyses were cupped and this involved most of the tubular bones. The spine showed increasing platyspondyly. Cone-shaped epiphyses were present in all of the phalanges and the odontoid was markedly dysplastic. It should be noted that there was invagination of the epiphyses at the knees. Sweating was normal, as was tear production.

* This information is courtesy of the L M D.

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What gene changes cause Alopecia - Metaphyseal Dysplasia?

The syndrome is inherited in the following inheritance pattern/s:

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.

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 that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Alopecia - Metaphyseal Dysplasia?

The typical symptoms of the syndrome are:

How does someone get tested for Alopecia - Metaphyseal Dysplasia?

The initial testing for Alopecia - Metaphyseal Dysplasia can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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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