Ablepharon-Macrostomia syndrome

What is Ablepharon-Macrostomia syndrome?

This rare disease is a very rare genetic condition.

Symptoms of the syndrome largely affect the head and face but can also affect the skin, fingers, and genitals.

The unique facial features of the syndrome are one of its main identifying symptoms.

What gene changes cause Ablepharon-Macrostomia syndrome?

The syndrome is caused by mutations in the TWIST2 gene. It is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Ablepharon-Macrostomia syndrome?

Symptoms mainly affect the head and face but also the skin, fingers and genitals.

The unique facial features of the condition include missing or under-developed eyelids, as well as missing eyelashes and eyebrows. A very wide mouth, and under-developed ears are also common to the syndrome. A triangular face, a small misshapen nose, and thin hair may also be present.

Other syndromes may include webbed fingers, thin skin with folds, intestinal hernias and genital abnormalities including underdeveloped nipples and testes.

How does someone get tested for Ablepharon-Macrostomia syndrome?

The initial testing for Ablepharon-Macrostomia 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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