Cleft Lip/palate-Ectodermal Dysplasia syndrome (CLPED1)

What is Cleft Lip/palate-Ectodermal Dysplasia syndrome (CLPED1)?

EEC syndrome is a rare genetic condition that presents with 3 specific congenital defects or symptoms.

These symptoms affect the skin, hands and feet and lip/mouth of affected individuals.

The syndrome was first documented in 1770 in South America.

What gene changes cause Cleft Lip/palate-Ectodermal Dysplasia syndrome (CLPED1)?

Mutations in the TP63 gene are responsible for causing the syndrome. 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 Cleft Lip/palate-Ectodermal Dysplasia syndrome (CLPED1)?

the 3 main features of this rare disease are:

1. Ectrodactyly: this leads to lobster-claw hands and feet
2. Ectodermic dysplasia: fine, short hair, absent eyebrows and eyelashes, nails that do not develop properly
3. Cleft lip, with or without a cleft palate

Other symptoms or features associated with the syndrome include intellectual disability, midface hypoplasia, hypopigmentation of the skin, hearing loss, a short stature, blindness and nipple abnormalities

How does someone get tested for Cleft Lip/palate-Ectodermal Dysplasia syndrome (CLPED1)?

The initial testing for Cleft Lip/palate-Ectodermal Dysplasia 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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