Intellectual disability, short stature, hypertelorism syndrome

disorder

SNOMED 771077007CUI C4749650

Overview

Intellectual disability, short stature, hypertelorism 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.

Cheekbone underdevelopment

Very frequent (80-99%)HP:0010669

Frontal protuberance

Very frequent (80-99%)HP:0002007

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Increased length of philtrum

Frequent (30-79%)HP:0000343

Increased nasal width

Frequent (30-79%)HP:0000445

Low intelligence

Frequent (30-79%)HP:0001249

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Related Conditions

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

Small stature(parent)

Orbital hypertelorism(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 771077007
UMLS CUI: C4749650
Fully Specified Name: Intellectual disability, short stature, hypertelorism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.