Castriota-Scanderbeg (2001) - Metaphyseal Chondrodysplasia

What is Castriota-Scanderbeg (2001) - Metaphyseal Chondrodysplasia?

Castriota-Scanderbeg (2001) - Metaphyseal Chondrodysplasia is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Castriota-Scanderbeg et al., (2001) reported a 5« year old girl with an unusual form of metaphyseal dysplasia resembling cartilage-hair hypoplasia, but without tendency to infections or gastrointestinal problems and with normal hair. The parents were unrelated. The face was unusual with "slight hypertelorism" and "a low nasal root". There was rhizomelic shortening of the lower limbs and rhizomelic and acromelic shortening of the upper limbs. The chest was narrow inferiorly. Height was below the third centile. Radiographs at 18 months showed generalised metaphyseal abnormalities with the humerus, femur and hands most severely affected with large epiphyses of the humeri and femur. The spine was normal. There was anterior cupping of the ribs. There was cupping of the metaphyses of the short tubular bones in the hands. There was decreased flaring of iliac bones. The epiphyses of the proximal and middle phalanges were coned shaped. The bone age of the hands was delayed. There was a generalised mild osteopenia.

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* This information is courtesy of the L M D.

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What gene changes cause Castriota-Scanderbeg (2001) - Metaphyseal Chondrodysplasia?

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 Castriota-Scanderbeg (2001) - Metaphyseal Chondrodysplasia?

The typical symptoms of the syndrome are:

How does someone get tested for Castriota-Scanderbeg (2001) - Metaphyseal Chondrodysplasia?

The initial testing for Castriota-Scanderbeg (2001) - Metaphyseal Chondrodysplasia 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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