Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome

disorder

SNOMED 722036008CUI C1863924

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Dilated cerebral ventricle

Always present (100%)HP:0002119

More grooves in brain

Very frequent (80-99%)HP:0002126

Nonsyndromal hydrocephalus

Very frequent (80-99%)HP:0000238

Postaxial hand polydactyly

Very frequent (80-99%)HP:0001162

Abnormal localization of kidney

Frequent (30-79%)HP:0100542

Abnormal nasal morphology

Frequent (30-79%)HP:0005105

Concave bridge of nose

Frequent (30-79%)HP:0005280

Heart septal defect

Frequent (30-79%)HP:0001671

High forehead

Frequent (30-79%)HP:0000348

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased intercanthal distance

Frequent (30-79%)HP:0000506

Narrow mouth

Frequent (30-79%)HP:0000160

Seizures

Frequent (30-79%)HP:0001250

Generalised overgrowth

Occasional (5-29%)HP:0001548

Postaxial hexadactyly

Occasional (5-29%)HP:0100259

Atria septal defect

HP:0001631

Big calvaria

HP:0000256

Cerebral pachygyria

HP:0001302

Eyelid ptosis

HP:0000508

Frontal protuberance

HP:0002007

Hunched back

HP:0002808

Hypoplasia of corpus callosum

HP:0002079

Inability to straighten knee

HP:0006380

Intellectual disability, profound

HP:0002187

Legal blindness

HP:0000618

Macrencephaly

HP:0001355

Megalophthalmos

HP:0001090

Mental and motor retardation

HP:0001263

Mitral regurgitation

HP:0001653

Muscle atrophy, neurogenic

HP:0003202

Related Conditions

Microgyria(parent)

Macroencephaly(parent)

Congenital hydrocephalus(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 722036008
UMLS CUI: C1863924
Fully Specified Name: Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (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.