Megalencephaly, severe kyphoscoliosis, overgrowth syndrome

disorder

SNOMED 1260143005CUI C5681123

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.

Arachnodactyly

Very frequent (80-99%)HP:0001166

General overgrowth

Very frequent (80-99%)HP:0001548

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased vertical thickness of eyebrow

Very frequent (80-99%)HP:0011229

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Protruding forehead

Very frequent (80-99%)HP:0011220

Sparse eyebrow

Very frequent (80-99%)HP:0045075

Vertical enlargement of face

Very frequent (80-99%)HP:0000276

Cognitive delay

Frequent (30-79%)HP:0001263

Deformity of face

Frequent (30-79%)HP:0001999

Dolichostenomelia

Frequent (30-79%)HP:0001519

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Drooling

Frequent (30-79%)HP:0002307

Enlarged brain

Frequent (30-79%)HP:0001355

Gait disturbance

Frequent (30-79%)HP:0001288

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

High arched palate

Frequent (30-79%)HP:0000218

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Kyphoscoliosis

Frequent (30-79%)HP:0002751

Large for gestational age

Frequent (30-79%)HP:0001520

Large head

Frequent (30-79%)HP:0000256

Large pinnae

Frequent (30-79%)HP:0000400

Long foot

Frequent (30-79%)HP:0001833

Mandibular hyperplasia

Frequent (30-79%)HP:0000303

Mongoloid slant

Frequent (30-79%)HP:0000582

No speech development

Frequent (30-79%)HP:0001344

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Prominent globes

Frequent (30-79%)HP:0000520

Slender build

Frequent (30-79%)HP:0001533

Related Conditions

Congenital macrocephaly(parent)

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Multiple malformation syndrome with early overgrowth(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Macroencephaly(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1260143005
UMLS CUI: C5681123
Fully Specified Name: Megalencephaly, severe kyphoscoliosis, overgrowth 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.