Otopalatodigital syndrome

What is Otopalatodigital syndrome?

It is a rare genetic syndrome that presents mainly in males due to its mode of inheritance. There are two types of the syndrome, both of which present with similar symptoms- skeletal abnormalities, cleft palate, hearing loss. However Type 2 of the syndrome is a much more severe form and generally individuals with this form of the syndrome do not survive birth or the newborn period.

What gene changes cause Otopalatodigital syndrome?

Both forms of the syndrome are caused by mutations in the FLNA gene on the X chromosome.

The syndrome is inherited in an X-linked pattern making it much more common amongst males who have only one X chromosome.

What are the main symptoms of Otopalatodigital syndrome?

Type 1: the main symptoms include a cleft palate, conductive hearing loss (caused by anomalies in the middle ear, a short stature and short fingers and toes. Other possible symptoms include bent fingers, fused fingers, short fingernails, undeveloped facial bones and delayed speech and language development. The symptoms in females are usually less developed and fewer and include a depressed nasal bridge, widely spaced eyes and a flat middle of the face.

Type 2: this is the more severe form of the syndrome and the symptoms reflect that. They include a small head, broad forehead, widely spaced eyes, small mouth, cleft palate, small jaw, bent fingers, short fingers and toes and a small chest. Heart defects are also sometimes present. As is intellectual disability. Females will also have less severe symptoms with this type of the syndrome as well.

How does someone get tested for Otopalatodigital syndrome?

The initial testing for Otopalatodigital syndrome 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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