Macrocephaly-capillary malformation
MeSH: C536142ORPHA: 60040
Overview
disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Macrocephaly-capillary malformation, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityWide mouthMacrocephalyFacial asymmetryNevus flammeusHand polydactylyToe syndactylyFoot polydactylyFinger syndactylyArteriovenous malformationAsymmetric growthTelangiectasia of the skinVisceral angiomatosisHydrocephalusFull cheeksHigh foreheadCutis marmorataHypermelanotic maculeIntellectual disabilityHypotoniaGlobal developmental delayFailure to thriveFrontal bossingVentriculomegalyAplasia/Hypoplasia of the cerebellumAbnormal nervous system morphologyDeeply set eyeOptic atrophyPolymicrogyriaChiari malformationCerebral ischemiaNeoplasmDepressed nasal bridgeArrhythmiaAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
C536142Orphanet Code
ORPHA:60040Macrocephaly-capillary malformation
| MeSH | C536142 |
| Orphanet | ORPHA:60040 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO