encephalocraniocutaneous lipomatosis
Findings
No curated finding names encephalocraniocutaneous lipomatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.
Definition from the Mondo Disease Ontology (MONDO:0013074), read 2026-09-29. CC BY 4.0.
- Inheritance
- Typified by somatic mosaicism
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
58 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AlopeciaHPOHP:0001596
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Nevus psiloliparusHPOHP:0034587
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- LipodystrophyHPOHP:0009125
- Very frequent (80% to 99% of cases)
- Multiple lipomasHPOHP:0001012
- Very frequent (80% to 99% of cases)
Show the remaining 46
- Abnormal eyelid morphologyHPOHP:0000492
- Frequent (30% to 79% of cases)
- Abnormal nasolacrimal system morphologyHPOHP:0000614
- Frequent (30% to 79% of cases)
- Abnormal skull morphologyHPOHP:0000929
- Frequent (30% to 79% of cases)
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Abnormality of the faceHPOHP:0000271
- Frequent (30% to 79% of cases)
- Absent septum pellucidumHPOHP:0001331
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FGFR1HGNC:3688
- Definitive · G2P · Autosomal dominant · 2016
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: encephalocraniocutaneous lipomatosis
- Also called
- ECCLencephalocraniocutaneous lipomatosis, somatic mosaicFishman syndromeHaberland syndrome