Symptoms of ED

Ectodermal Dysplasia (ED) affects people in different ways. To be diagnosed with an ED syndrome, two or more ectodermal features—such as hair, teeth, nails, sweat glands, or skin—must function abnormally. Each type of ED is different, and symptoms can range from mild to more complex.

A diagnosis is usually made by a geneticist, dermatologist, or dentist, depending on which features are affected. You can find more general information in our section What Is Ectodermal Dysplasia.

Core Features of Ectodermal Dysplasia

When exploring a potential diagnosis, medical professionals usually begin by examining these five areas:

• Hair
  Hair may be missing, very sparse, or unusually light in colour.
  → Learn more about Hair symptoms.

• Nails
  Nails may be thick or thin, ridged, or abnormally shaped.
  → Learn more about nail symptoms

• Skin
  Skin may be thin, dry, or prone to rashes, infections, or sunburn.
  → Learn more about skin symptoms

• Sweat Glands
  These may be underdeveloped or absent, leading to reduced or no sweating and increased risk of overheating.
  → Learn more about sweat gland issues

• Teeth
  Teeth may be missing (hypodontia), small, pointed, or widely spaced.
  → Learn more about dental symptoms:

• Teeth

  • Dental Implants
  • Dentures
  • Teeth Tips

Other Areas That Can Be Affected

Ectodermal dysplasias can also involve other parts of the body, including:

• Ear Nose and Throat – Wax build-up, hearing loss, or nerve-related issues, Thick mucus or strong-smelling nasal discharge
• Eyes – Dry eyes, sensitivity to light, inflammation, or corneal damage
• Throat and Mouth – Dry mouth, difficulty tasting, chewing, or swallowing
• Limbs – Missing or fused fingers or toes

Additional Health Challenges

Some individuals may also experience other medical complications:

• Cleft lip and palate

• Allergies and immune issues – Including asthma, eczema, or frequent infections

• Digestive problems – Such as constipation

• Growth and development delays – Including short stature, distinctive facial features, or underdeveloped breast tissue

• Reproductive and breastfeeding challenges – In some females

• Respiratory System issues – Including frequent infections

Help Us Build a Better Picture of ED Symptoms

We’re creating a Symptoms Database to better understand the wide range of ways Ectodermal Dysplasia affects individuals. This will help us support families and individuals by providing more targeted, useful information for day-to-day care.

Would you be willing to help?
If you or someone in your family is affected by ED, please consider completing our Symptoms Questionnaire. It takes just a few minutes and your input is invaluable.

You can:

• Download and complete the Symptoms Questionnaire Online – then email it back to us, or

• Print and post the paper version of the Symptoms Questionnaire to the address provided.

All responses are confidential and will only be used to support our understanding and improve resources for the ED community.

Thank you for helping us make a difference.