Haberland syndromeE88.2
Synonym(s)
ECCL; Encephalocraniocutaneous lipomatosis; Encephalocraniocutaneous Lipomatosis
HistoryThis section has been translated automatically.
Haberland and Perou, 1970
DefinitionThis section has been translated automatically.
Rare neuroectodermal syndrome with unilateral lipomas of the capillitium and face, aplasia cutis congenita and epidermal nevi (nevus psiloliparius).
Other eye changes are microphthalmia and colobomas. In addition, cerebral changes such as agenesia of the corpus callosum, ventricular dilatation, cysts and calcifications as well as mental retardation and seizures.
LiteratureThis section has been translated automatically.
- Haberland C, Perou M (1970) Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol 22: 144-155
- Rubegni P et al (2003) Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. Clin Exp Dermatol 28: 387-390