Focal Dermal Hypoplasia

Goltz Syndrome, or Focal Dermal Hypoplasia (FDH) is, by definition, an ectodermal dysplasia syndrome due to the involvement of skin (focal hypoplasia/atrophy of skin with herniation of fat into the dermal layer, and pigmentary abnormalities often following the lines of Blaschko); hair (sparse, brittle, patchy); teeth (hypo/oligodontia, enamel hypoplasia/pitting, abnormal shape); nails (dystrophic/absent); and eyes (coloboma, micro/anophthalmia, aniridia). In addition, the disorder shares some features of EctrodactylyEctodermal Dysplasia-Clefting syndrome (a disorder caused by mutation of a different gene, TP63/TP73L), as most individuals have digital anomalies (syndactyly, brachydactyly, oligodactyly, ectrodactyly, polydactyly) and some have cleft lip/palate. In addition to the ectodermal component of the syndrome, limb anomalies (osteopathia striata), short stature, breast anomalies, and facial dysmorphism may occur. Approximately 15% of affected individuals have mental retardation. It is possible that contiguous gene deletion involving the PORCN gene is responsible for those cases with a more complex phenotype. Mutation affecting only a specific isoform of the protein is hypothesized to cause phenotypic effects restricted to the tissue(s) in which that isoform is expressed

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Differentiation between de novo and familial cases
  • Prenatal diagnosis


4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

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


  • 757.31 Congenital ectodermal dysplasia
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**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.


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  2. Grzeschik K-H et al. Nat Genet 2007 Jul;39(7):833-5
  3. Wang X et al. Nat Genet 2007 Jul;39(7):836-8
  4. Leoyklang P et al. Clin Genet 2008 Apr; 73(4):373-379
  5. Gorlin et al., (2001) Syndromes of the Head and Neck, London, 4th ed. 571-576
  6. Fernandes et al., (2010) Genet Test Mol Biomarkers 14(5):716-720
  7. Bornholdt et al., (2009) Hum Mutat 30:E618-E628