Schopf-Schulz-Passarge Syndrome (SSPS)

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

WNT10A
  • Confirmation of a clinical diagnosis
  • Definition of the molecular basis for ectodermal dysplasia
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

373
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

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

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