Paula and Bobby
Parents of Lillie
Mental Retardation, X-Linked, Syndromic 33
What is Mental Retardation, X-Linked, Syndromic 33?
It is a rare genetic syndrome and neurodevelopmental disorder characterized by intellectual disability and psychomotor delay. The syndrome, due to the way in which it is inherited, is most severe in males.
What gene changes cause Mental Retardation, X-Linked, Syndromic 33?
Changes to the TAF1 gene are responsible for causing the syndrome. This is also linked to dystonia-parkinsonism syndrome. It 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 33?
Intellectual disability and global developmental delay affecting all areas of development are main symptoms of the syndrome. Some individuals are diagnosed with autistic features.
Growth delay, both before and after birth, is another main symptom.
Unique facial features of the syndrome include a small head, low set and protruding ears, a long face, a pointed chin and sagging cheeks. Individuals also suffer from recurrent ear infections and in some cases hearing loss too.
How does someone get tested for Mental Retardation, X-Linked, Syndromic 33?
The initial testing for Mental Retardation, X-Linked, Syndromic 33 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.
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.
Benefits of FDNA Telehealth
Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.
Ease of Use
Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
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Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
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We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.