Overview
Macroencephaly 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.
Abnormal cranial suture/fontanelle morphology
Very frequent (80-99%)HP:0000235
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Deep set eye
Very frequent (80-99%)HP:0000490
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Frontal protuberance
Very frequent (80-99%)HP:0002007
Large head
Very frequent (80-99%)HP:0000256
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Prominent posterior skull
Very frequent (80-99%)HP:0000269
Short neck
Very frequent (80-99%)HP:0000470
Small pointed chin
Very frequent (80-99%)HP:0000307
Truncal obesity
Very frequent (80-99%)HP:0001956
Turridolichocephaly
Very frequent (80-99%)HP:0000268
Atria septal defect
Frequent (30-79%)HP:0001631
Genu valga
Frequent (30-79%)HP:0002857
Large testis
Frequent (30-79%)HP:0000053
Long penis
Frequent (30-79%)HP:0000040
Related Conditions
Familial megalencephaly(child)
Sporadic megalencephaly(child)
Hemimegalencephaly(child)
Infantile leukoencephalopathy and megalencephaly(child)
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome(child)
Macrocephaly-capillary malformation(child)
Bilateral megalencephaly(child)
MINDS syndrome(child)
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome(child)
Congenital anomaly of cerebrum(parent)
Quick Facts
- SNOMED CT
- 9740002
- UMLS CUI
- C2720434
- Fully Specified Name
- Macroencephaly (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 16
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.