Mental Retardation, X-Linked, Syndromic, Cabezas Type

What is Mental Retardation, X-Linked, Syndromic, Cabezas Type?

It is a syndrome characterized by intellectual disability and developmental delay.

What gene changes cause Mental Retardation, X-Linked, Syndromic, Cabezas Type?

The syndrome is caused by a mutation in the CUL4B gene. The syndrome is inherited in an X-linked recessive pattern.

Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

What are the main symptoms of Mental Retardation, X-Linked, Syndromic, Cabezas Type?

The main symptoms include intellectual disability and developmental delay. This delay mainly affects speech and language which is often severely affected. Hyperactivity is also a feature of the syndrome.

Physical features of the syndrome include an abnormal hair pattern and distribution of hair, a large head, permanent curving of the pinkie finger, rounded shoulders, a big nose, broad mouth and short neck. In males a short stature is also a common feature. Some individuals also present with truncal obesity.

Some individuals suffer from seizures and tremors as well.

How does someone get tested for Mental Retardation, X-Linked, Syndromic, Cabezas Type?

The initial testing for Mental Retardation, X-Linked, Syndromic, Cabezas Type 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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