Encephalocraniocutaneous lipomatosis

Orpha code: 2396OMIM code: 613001

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
Haberland syndrome
Zespół Haberlanda
Kod ORPHA
2396
Kod OMIM
613001
Kod ICD10
E88.2
Kod ICD11
EF02.1

No additional description.

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