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Focal Dermal Hypoplasia (FDH) / Goltz Syndrome

  • PORCN (Porcupine protein)
Goltz Syndrome, or Focal Dermal Hypoplasia (FDH), is 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, limb and digital anomalies are often present. Approximately 15% of affected individuals have mental retardation. Goltz syndrome is an X-linked dominant disorder, which mostly affects females.

Using genomic DNA obtained from whole blood (1-5 mL in EDTA)*, GeneDx will perform bi-directional sequence analysis of all coding exons and intron-exon boundaries of the PORCN gene. Concurrently, targeted array CGH analysis with exon-level resolution (ExonArrayDx) is performed to evaluate for a deletion or duplication of one or more exons of this gene. Based on the small number of cases so far reported, it is expected that the combination of full gene sequence analysis and targeted array CGH analysis for a PORCN deletion would identify the associated mutation/deletion in more than two-thirds of cases. Mutation-specific testing in family members and prenatal diagnosis in at-risk pregnancies is available once a mutation in an affected individual has been defined.

*Note: Buccal Brushes CANNOT be accepted for this test.

Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
Goltz-Gorlin, PORCYN, FDH, ED, EDS, EED, cleft lip, cleft palate, short stature, breast anomalies, facial dysmorphism, contiguous gene, mosaic, X-linked, X chromosome, porcupine, segment polarity gene, Wnt, de novo, Gorlin, Golt, Goldz, PORCIN, ectodermal dysplasia

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