Hutchinson-Gilford syndrome

disorder

SNOMED 238870004CUI C0033300

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.

Decreased volume of lip vermillion

Very frequent (80-99%)HP:0000233

Generalized abnormality of skin

Very frequent (80-99%)HP:0011354

Hearing loss, conductive

Very frequent (80-99%)HP:0000405

Hypoplastic mandible condyle

Very frequent (80-99%)HP:0000347

Lack of fatty tissue below the skin

Very frequent (80-99%)HP:0007485

Narrow mouth

Very frequent (80-99%)HP:0000160

Premature skin wrinkling

Very frequent (80-99%)HP:0100678

Prominent superficial vasculature

Very frequent (80-99%)HP:0007394

Prominent umbilicus

Very frequent (80-99%)HP:0001544

Pubertal developmental failure in females

Very frequent (80-99%)HP:0008647

Severe weight faltering

Very frequent (80-99%)HP:0001525

Weight loss

Very frequent (80-99%)HP:0001824

Abnormal aortic valve morphology

Frequent (30-79%)HP:0001646

Abnormal mitral valve morphology

Frequent (30-79%)HP:0001633

Abnormality of tip of nose

Frequent (30-79%)HP:0000436

Alopecia areata

Frequent (30-79%)HP:0002232

Body fails to respond to insulin

Frequent (30-79%)HP:0000855

Coxa valga deformity

Frequent (30-79%)HP:0002673

Craniofacial disproportion

Frequent (30-79%)HP:0005461

Decreased serum leptin

Frequent (30-79%)HP:0003292

Decreased width of nasal dorsum

Frequent (30-79%)HP:0000418

Delayed menarche

Frequent (30-79%)HP:0012569

Dislocated femoral heads

Frequent (30-79%)HP:0002827

Dystrophic fingernails

Frequent (30-79%)HP:0008391

Dystrophic toenails

Frequent (30-79%)HP:0001810

Exertional dyspnea

Frequent (30-79%)HP:0002875

Female hypogonadism

Frequent (30-79%)HP:0000134

High arched palate

Frequent (30-79%)HP:0000218

High pitched voice

Frequent (30-79%)HP:0001620

Hypoplasia of tongue frenum

Frequent (30-79%)HP:0000200

Related Conditions

Laminopathy with premature aging(parent)

Quick Facts

SNOMED CT: 238870004
UMLS CUI: C0033300
Fully Specified Name: Hutchinson-Gilford 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.