Goltz Syndrome

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

  • 1. Confirmation of a clinical diagnosis
  • 2. Differentiation between de novo and familial cases
  • 3. Prenatal diagnosis


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


  • 757.31 Congenital ectodermal dysplasia
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  1. Goltz, RW. Arch Dermatol 128:1108-1111, 1992
  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