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Ectodermal Dysplasia

What are the symptoms?

Each syndrome usually involves a different combination of symptoms, which can range from mild to severe, such as:

  • Absence or abnormality of hair growth;
  • Absence or malformation of some or all teeth;
  • Inability to perspire, which causes overheating;
  • Abnormalities of the nails - which may be brittle and grow slowly or be thickened or ridged;
  • Frequent infections due to immune system deficiencies or, in some cases, the inability of cracked or eroded skin to keep out disease-causing bacteria;
  • Absence or malformation of some fingers or toes;
  • Cleft lip and/or palate;
  • Irregular skin pigmentation.

In addition to the above they may have:

  • Sensitivity to light;
  • Respiratory infections and allergies;
  • A lack of breast development;
  • Impairment or loss of hearing or vision;
  • Constipation;
  • A host of other challenges.

Individuals affected by ED face a lifetime of special needs which may include:

  • Dentures at a young age with frequent adjustments and replacements;
  • Special diets to meet dental/nutritional needs;
  • Air conditioned environments;
  • Wigs to conceal hair and scalp conditions;
  • Genetic testing to confirm the precise diagnosis and identify carriers;
  • Protective devices from direct sunlight;
  • Osseointegrated dental implants;
  • Respiratory therapies.

View Background Background  |  Eye problems and ectodermal dysplasia View Eye problems and ectodermal dysplasia

Medical text written October 2005 by the Ectodermal Dysplasia Society and Contact a Family. Approved October 2005 by Professor A Clarke, Professor in Clinical Genetics,Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK. Additional material on Eye Problems and Ectodermal Dysplasia written July 2006 by Dr C Willoughby, Consultant Ophthalmic Surgeon and Senior Lecturer in Ophthalmology, Royal Victoria Hospital, Belfast, UK.

 

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