Megalencephaly-capillary malformation-polymicrogyria syndrome
Therapeutic area
Neurology
Rare disease
Yes
- 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.
- Genetic basis
- Yes
- Non-human condition
- No
- Rare disease
- Yes
- Listing at source
- Listed
- Condition name
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Therapeutic area
- Neurology
- megalencephaly-capillary malformation-polymicrogyria syndrome
- MCAP
- MCM
- MCMTC
- macrocephaly-capillary malformation syndrome
- macrocephaly-cutis marmorata telangiectatica congenita syndrome
- megalencephaly-capillary malformation syndrome
- megalencephaly-capillary malformation-polymicrogyria syndrome
- megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
- megalencephaly-cutis marmorata telangiectatica congenita syndrome
- M-CM
- M-CMTC
- macrocephaly cutis marmorata telangiectatica congenita
- megalencephaly cutis marmorata telangiectatica congenita
- megalocephaly cutis marmorata telangiectatica congenita
- All therapeutic areas
- Neurology
- Severity
- Severe
- Developmental
- Genetic
- Hereditary
- MONDO ID
- MONDO:0011240
- Parent condition
- MONDO:0100283
Related records
Broader conditions (15)
- Central nervous system malformation
- Developmental defect during embryogenesis
- Disease
- Disease by body system or component
- Disease by developmental or physiological process
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Disorder of development or morphogenesis
- Hereditary disease
- Hereditary neurological disease
- Human disease
- Nervous system disorder
- Overgrowth syndrome
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- PIK3CA-related overgrowth spectrum
Trials (4)
- A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)
- Assessment of the Efficacy and Safety of Alpelisib (BYL719) in Pediatric and Adult Patients With Megalencephaly-CApillary Malformation Polymicrogyria Syndrome (MCAP)
- Effect of Low-Fat Compared to Low-Carbohydrate Diet in Subjects With Multifactorial Chylomicronemia
- National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)