Gapo syndrome

What is Gapo syndrome?

This rare disease is a congenital syndrome affecting the connective tissue in the body.

Common symptoms of the syndrome include, short stature (due to prenatal growth restriction), unique facial features, alopecia, and issues relating to the eyes and ears.

First identified in 1947 there have been just 38 identified cases to date.

What gene changes cause Gapo syndrome?

Mutations in the ANTXR1 gene are responsible for the syndrome. It is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Gapo syndrome?

The main facial features of the syndrome include a high and bossing forehead, puffy eyelids, a depressed nasal bridge, anteverted wide nostrils, a thick upper lip, low set ears, a very small jaw and a premature ageing appearance due to wrinkling of the skin. The primary and adult teeth of an affected individual will form but not erupt.

Issues relating to the eyes include optic atrophy, glaucoma, strabismus, ptosis and a number of other different conditions that affect the eyes and eyesight. Issues relating to the ears, or otorhinolary irrigologic features include deafness.

Alopecia is a main symptom, and may lead to partial or complete loss of scalp hair. Indfiodivudlas will also jabve sparse eyebrows and lashes.

Mind intellectual disability is also another feature of the syndrome.

How does someone get tested for Gapo syndrome?

The initial testing for Gapo 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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