Alopecia, contracture, dwarfism, intellectual disability syndrome

disorder

SNOMED 720979002CUI C4303742

Overview

Alopecia, contracture, dwarfism, intellectual disability 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.

Decreased sweating

Very frequent (80-99%)HP:0000966

Hair loss

Very frequent (80-99%)HP:0001596

Hunched back

Very frequent (80-99%)HP:0002808

Low intelligence

Very frequent (80-99%)HP:0001249

Short stature, severe

Very frequent (80-99%)HP:0003510

Stiff joint

Very frequent (80-99%)HP:0001387

Thin, sparse hair

Very frequent (80-99%)HP:0008070

Abnormal antihelix morphology

Frequent (30-79%)HP:0009738

Abnormal spinal segmentation

Frequent (30-79%)HP:0003422

Abnormal toenail morphology

Frequent (30-79%)HP:0008388

Abnormality of the elbow

Frequent (30-79%)HP:0009811

Bilateral fifth digit clinodactyly

Frequent (30-79%)HP:0004209

Biparietal narrowing

Frequent (30-79%)HP:0004422

Brachydactyly

Frequent (30-79%)HP:0001156

Decreased size of cranium

Frequent (30-79%)HP:0000252

Dystrophic tooth enamel

Frequent (30-79%)HP:0000682

Epidermal hyperkeratosis

Frequent (30-79%)HP:0000962

Fusion of wrist bones

Frequent (30-79%)HP:0005048

Helix abnormal

Frequent (30-79%)HP:0011039

Increased distance between eyes

Frequent (30-79%)HP:0000316

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Large nose

Frequent (30-79%)HP:0000448

Large pinnae

Frequent (30-79%)HP:0000400

Moderate postnatal growth retardation

Frequent (30-79%)HP:0008855

Mongoloid slant

Frequent (30-79%)HP:0000582

Near sighted

Frequent (30-79%)HP:0000545

Partial syndactyly

Frequent (30-79%)HP:0006101

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Short middle phalanx of finger

Frequent (30-79%)HP:0005819

Tall shaped head

Frequent (30-79%)HP:0000262

Related Conditions

Ectodermal dysplasia(parent)

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

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the integument(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 720979002
UMLS CUI: C4303742
Fully Specified Name: Alopecia, contracture, dwarfism, intellectual disability 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.