Encephalocraniocutaneous lipomatosis

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Synonyms: Haberland syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Encephalocraniocutaneous lipomatosis?

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