Odonto-onycho-dermal dysplasia (OODD)

A broad spectrum of clinical features has been found in ectodermal dysplasia patients who have compound heterozygous or homozygous mutations in WNT10A, with the most consistent clinical feature being severe oligodontia of permanent teeth. Both generalized hypohidrosis and hyperhidrosis have been reported. Excessive or reduced sweating involving palms and soles can occur. Skin is usually dry, while nails may be normal in shape and texture, or thinned, flat, convex, slow growing, or even absent at birth but develop later in childhood. Palmoplantar findings range from normal skin to severe hyperkeratosis. Scalp, body, and facial hair may be sparse. Photophobia has been described in a few patients. Patients with OODD have, in addition to oligodontia and abnormal teeth, dystrophic nails, erythematous lesions of face, and palmoplantar hyperkeratosis with hyperhidrosis. Hair may or may not be involved. SSPS is characterized by hidrocystomas (eyelid cysts) in association with other findings of ectodermal dysplasia. Heterozygotes frequently manifest mild symptoms

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Definition of the molecular basis for ectodermal dysplasia
  • Prenatal diagnosis in at-risk pregnancies

Ordering

TA80
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 757.31 Congenital ectodermal dysplasia
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Bohring et al. Am J Hum Genet. 85:97-105, 2009
  2. Adaimy et al. Am J Hum Genet. 81:821-828, 2007