Lig4 syndrome

What is Lig4 syndrome?

This genetic syndrome is extremely rare with just a few cases reported worldwide, to date.

It presents with a wide range of symptoms including a small head, severe growth and developmental delay and characteristic facial features. Immunodeficiency is also a characteristic feature of the condition.

What gene changes cause Lig4 syndrome?

It is caused by mutations in the LIG4 gene. 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 Lig4 syndrome?

Characteristics facial features of the syndrome include a small head, a beak-like nose and small jaw.

Skin conditions are also common with the syndrome. These might include photosensitivity and skin lesions similar to psoriasis.

Immunodeficiency is also a feature of the syndrome, along with telangiectasias, leukemia, lymphoma, bone marrow abnormalities, and type 2 diabetes.

How does someone get tested for Lig4 syndrome?

The initial testing for Lig4 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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Paula and Bobby
Parents of Lillie

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FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

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