Overview
Macrocephaly-capillary malformation is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Arteriovenous malformation
Very frequent (80-99%)HP:0100026
Big calvaria
Very frequent (80-99%)HP:0000256
Large mouth
Very frequent (80-99%)HP:0000154
Partial syndactyly
Very frequent (80-99%)HP:0006101
Polydactyly of the foot
Very frequent (80-99%)HP:0001829
Polydactyly of the hand
Very frequent (80-99%)HP:0001161
port-wine stain
Very frequent (80-99%)HP:0001052
Syndactyly of feet
Very frequent (80-99%)HP:0001770
Teleangiectasia of the skin
Very frequent (80-99%)HP:0100585
Unbalanced face
Very frequent (80-99%)HP:0000324
Uneven or disproportionate growth of one body part compared to another
Very frequent (80-99%)HP:0100555
Visceral angiomatosis
Very frequent (80-99%)HP:0100761
Abnormal shape of nervous system
Frequent (30-79%)HP:0012639
Cerebellar hypoplasia/atrophy
Frequent (30-79%)HP:0007360
Cutis marmorata
Frequent (30-79%)HP:0000965
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Frontal protuberance
Frequent (30-79%)HP:0002007
High forehead
Frequent (30-79%)HP:0000348
Hyperpigmented macules
Frequent (30-79%)HP:0001034
Hyperplasia of cheeks
Frequent (30-79%)HP:0000293
Joint instability
Frequent (30-79%)HP:0001382
Nonsyndromal hydrocephalus
Frequent (30-79%)HP:0000238
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Poor school performance
Frequent (30-79%)HP:0001249
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Undergrowth
Frequent (30-79%)HP:0001508
Abnormal tissue mass
Occasional (5-29%)HP:0002664
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Cardiac arrhythmias
Occasional (5-29%)HP:0011675
Cerebrovascular ischemia
Occasional (5-29%)HP:0002637
Related Conditions
Hereditary neoplastic syndrome(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Hereditary disorder of nervous system(parent)
Macroencephaly(parent)
Cardiovascular system hereditary disorder(parent)
Capillary malformation(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 700063005
- UMLS CUI
- C1865285
- Fully Specified Name
- Megalencephaly capillary malformation (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.