megalencephaly-capillary malformation-polymicrogyria syndrome
Findings
No curated finding names megalencephaly-capillary malformation-polymicrogyria syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0011240), read 2026-09-29. CC BY 4.0.
- Inheritance
- Typified by somatic mosaicism
HPO, annotations 2026-09-02
Features
35 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.
- Arteriovenous malformationHPOHP:0100026
- Very frequent (80% to 99% of cases)
- Asymmetric growthHPOHP:0100555
- Very frequent (80% to 99% of cases)
- Facial asymmetryHPOHP:0000324
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- Foot polydactylyHPOHP:0001829
- Very frequent (80% to 99% of cases)
- Hand polydactylyHPOHP:0001161
- Very frequent (80% to 99% of cases)
- Macrocephaly
Show the remaining 23
- Abnormal nervous system morphologyHPOHP:0012639
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Frequent (30% to 79% of cases)
- Cutis marmorataHPOHP:0000965
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- Full cheeksHPOHP:0000293
- 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.
- PIK3CAHGNC:8975
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
8 names
Resolves to: megalencephaly-capillary malformation-polymicrogyria syndrome
- Also called
- macrocephaly-capillary malformation syndromemacrocephaly-cutis marmorata telangiectatica congenita syndromeMCAPMCMMCMTCmegalencephaly-capillary malformation syndromemegalencephaly-capillary malformation-polymicrogyria syndrome, somaticmegalencephaly-cutis marmorata telangiectatica congenita syndrome