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Encephalocraniocutaneous lipomatosis

Disease definition

A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.

ORPHA:2396

  • Synonym(s):
    • Haberland syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: E88.2
  • OMIM: 613001
  • UMLS: C0406612
  • MeSH: C535736
  • GARD: 2108
  • MedDRA: -
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