Skeletal overgrowth, craniofacial dysmorphism, hyperelastic skin, white matter lesion syndrome

disorder

SNOMED 1172898008CUI C4225270

Overview

Skeletal overgrowth, craniofacial dysmorphism, hyperelastic skin, white matter lesion syndrome 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.

Broad flat nasal bridge

Always present (100%)HP:0000431

Bulging forehead

Always present (100%)HP:0011220

Decreased volume of upper lip

Always present (100%)HP:0000219

Down-slanting palpebral fissure

Always present (100%)HP:0000494

Fragile skin

Always present (100%)HP:0001030

General overgrowth

Always present (100%)HP:0001548

Prominent globes

Always present (100%)HP:0000520

Scoliosis

Always present (100%)HP:0002650

Skin hyperelasticity

Always present (100%)HP:0000974

Accelerated linear growth

Frequent (30-79%)HP:0000098

Concave bridge of nose

Frequent (30-79%)HP:0005280

Depression

Frequent (30-79%)HP:0000716

Excessive, persistent worry and fear

Frequent (30-79%)HP:0000739

Eyelid ptosis

Frequent (30-79%)HP:0000508

Fatty deposits in skin around the eyes

Frequent (30-79%)HP:0001114

Hearing sounds

Frequent (30-79%)HP:0008765

Myofibromatosis

Frequent (30-79%)HP:0020135

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Small pointed chin

Frequent (30-79%)HP:0000307

Thin skin

Frequent (30-79%)HP:0000963

Hyperplasia of supraorbital ridge

HP:0000336

Long foot

HP:0001833

Thoracolumbar scoliosis

HP:0002944

Worsening neurological symptoms

HP:0002344

Related Conditions

Skeletal dysplasia(parent)

Multiple malformation syndrome with early overgrowth(parent)

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

Genetic disease(parent)

Quick Facts

SNOMED CT: 1172898008
UMLS CUI: C4225270
Fully Specified Name: Kosaki overgrowth syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.