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Focal dermal hypoplasia

Disease definition

Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.


  • Synonym(s):
    • Goltz syndrome
    • Goltz-Gorlin syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Neonatal
  • ICD-10: Q82.8
  • OMIM: 305600
  • UMLS: C0016395
  • MeSH: D005489
  • GARD: 6457
  • MedDRA: -

Detailed information

Article for general public


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