Mental Retardation, X-Linked, Syndromic, Nascimento Type

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

It is a rare genetic syndrome that presents with intellectual disability, significant speech impairment and unique facial features. It affects males and females differently due to the way in which it is inherited. Females generally do not experience intellectual disability but may have slight facial features characteristic of the syndrome.

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

Changes in the UBE2A gene are responsible for causing the syndrome.

It is inherited in an X-linked recessive pattern which explains why the symptoms are less severe in females than males.

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

The main symptoms of the syndrome include intellectual disability, and in particular significant speech and language impairments.

Unique facial features of the syndrome include a large head, deep-set eyes, large ears and a wide mouth with downward turned lip corners, a short neck, and a low hairline. Other physical features of the syndrome include excessive hair growth over the body, widely spaced nipples, dry skin or spots on the skin that are hyperpigmented, a micropenis, obesity and seizures.

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

The initial testing for Mental Retardation, X-Linked, Syndromic, Nascimento 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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What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

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