Hypo-/Anhidrotic Ectodermal Dysplasia

Affected males have hypotrichosis with fine, sparse and light-colored scalp and body hair. Beard hair is often normal. Other features include a decreased ability to sweat, which often leads to severe heat intolerance, hypodontia and conical or peg shaped teeth. The facial features are characterized by dark pigmented skin around the eyes, saddle nose and full lips. The function of lacrimal, meibomian and other glands is defective and there is thick nasal secretion and cerumen. Absent or accessory nipples are not uncommon. Female carriers of this disorder may have some minor symptoms, including thin hair, patches of hypohidrosis, and abnormal dentition.

Tests Available

Forms and Documents

Test Details

EDA1
  • Confirmation of a clinical diagnosis
  • Differentiation between X-linked and recessive forms of the disease
  • Carrier detection in female relatives of an affected male
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

1601E
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.31 Congenital ectodermal dysplasia
* For price inquiries please email zebras@genedx.com

References

  1. Monreal et al. 1998 Am J Hum Genet 63:380-389
  2. Vincent et al. 2001 Eur J Hum Genet 9:355-363
  3. Paakkonen et al. 2001 Hum Mut 17:349