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Ectodermal Dysplasia

Overview

What is Ectodermal Dysplasia Syndrome?

Ectodermal Dysplasia Syndromes (EDS) is a group of related conditions that causes the abnormal development of some combination of teeth, hair, nails, sweat glands and parts of the eye and ear during pregnancy. More than 150 conditions have been identified, and each syndrome usually involves a different combination of symptoms. EDS is diagnosed when a patient has 2 or more EDS symptoms.

What Causes EDS?

EDS is a genetic disorder, which means it's caused by changes (mutations) in a gene(s). Genes, which are passed from parents to children, determine a person's traits, including appearance and growth. Mutated genes can be inherited from a parent, caused by environmental factors, or occur randomly.

EDS is caused by mutations to genes that control the ectoderm, the cells that eventually develop into skin, hair, nails, teeth, nerve cells, sweat glands, parts of the eye and ear, and parts of some other organs during pregnancy.

How does EDS impact a child?

Because the ectoderm plays a role in development of so many body parts, patients with EDS may have a broad variety of symptoms, which range from mild to severe. Symptoms often include:

  • Missing or sparse hair growth (hypotrichosis)
  • Missing or malformed of teeth (hypodontia)
  • Inability to sweat (hypohidrosis), which causes overheating (hyperthermia)
  • Weakened or loss of hearing or vision
  • Missing or malformed fingers or toes
  • Cleft lip and/or palate
  • Irregular skin colour
  • Challenges breathing

Treatment

Can EDS be treated?

Yes, many of the symptom of EDS can be treated. Our team works with our patients and their families to develop a treatment plan that addresses each patient’s specific needs.

It is common for patients with EDS and EEC (Ectodermal-Ectodactyl Clefting Syndrome) to undergo significant dental treatment, including orthodontic, oral surgery and prosthetic services.

To learn more, read about the Dental Program for Ectodermal-Ectodactyl Clefting Syndrome

Resources

Canadian Ectodermal Dysplasia Syndromes Association (CEDSA)

Medline Plus (US National Library of Medicine): EDS

US National Foundation for Ectodermal Dysplaysias

About Face

Children's Craniofacial Association