Ohdo syndrome, SBBYS Variant (SBBYSS)

What is Ohdo syndrome, SBBYS Variant (SBBYSS)?

This is a rare disease is a genetic condition that affects multiple parts of the body. Severe intellectual disability is a major syndrome.

To date, there are 19 recorded cases of the syndrome worldwide and it is thought to occur in more than 1 in 1 million live births worldwide.

What gene changes cause Ohdo syndrome, SBBYS Variant (SBBYSS)?

Changes in the KAT6 gene are responsible for the syndrome. The majority of diagnosed cases so far have been de novo mutations.

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 which occurs during the reproductive process.

What are the main symptoms of Ohdo syndrome, SBBYS Variant (SBBYSS)?

A major symptom of the syndrome is severe intellectual disability, as well as limited to zero speech development.

Unique physical and facial characteristics of the syndrome include underdeveloped eyelids that cover part of the eye, a mask like, immobile face, a small mouth, small pointed teeth, thin upper lip, a large nasal tip, large toes and very long thumbs. A cleft palate occurs in 1/3 of all individuals with the syndrome.

Missing knee caps, or underdeveloped knee caps are also a major physical feature of the syndrome.

Other health conditions associated with the syndrome include heart defects, in 50% of individuals, feeding issues, low muscle gone and thyroid abnormalities.

How does someone get tested for Ohdo syndrome, SBBYS Variant (SBBYSS)?

The initial testing for Ohdo syndrome, SBBYS Variant (SBBYSS) 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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