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Encephalocraniocutaneous lipomatosis
rareA rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.
- Identifiers
- MONDO:0013074 OMIM:613001Orphanet:2396
- Causal genes
- FGFR1
- Part of
- Benign neoplasm of skinHereditary disorder of connective tissueHereditary skin disorderLipomatosisSubcutaneous tissue disorder
- Also known as
- ECCL · encephalocraniocutaneous lipomatosis, somatic mosaic · Fishman syndrome · Haberland syndrome
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