Intellectual disability, brachydactyly, Pierre Robin syndrome

disorder

SNOMED 763744009CUI C4706564

Overview

Intellectual disability, brachydactyly, Pierre Robin 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.

Brachydactyly

Frequent (30-79%)HP:0001156

Cleft of palate

Frequent (30-79%)HP:0000175

Cupid-bow shaped upper lip

Frequent (30-79%)HP:0002263

Decreased size of cranium

Frequent (30-79%)HP:0000252

Increased distance between eyes

Frequent (30-79%)HP:0000316

Long upper lip

Frequent (30-79%)HP:0011341

Mental retardation, mild

Frequent (30-79%)HP:0001256

Pierre-Robin sequence

Frequent (30-79%)HP:0000201

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Short palpebral fissure

Frequent (30-79%)HP:0012745

Small nasal alae

Frequent (30-79%)HP:0000430

Abnormality of canine

Occasional (5-29%)HP:0011078

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Absent outermost bone of the pinkie toe

Occasional (5-29%)HP:0100380

Absent outermost pinky finger bone

Occasional (5-29%)HP:0009246

Bulbous nose

Occasional (5-29%)HP:0000414

Central hypotonia

Occasional (5-29%)HP:0001252

Convex bridge of nose

Occasional (5-29%)HP:0000426

Corneal opacity

Occasional (5-29%)HP:0007957

Deafness

Occasional (5-29%)HP:0000365

Decreased amniotic fluid index

Occasional (5-29%)HP:0001562

Decreased size of tongue

Occasional (5-29%)HP:0000171

Delayed peripheral myelination

Occasional (5-29%)HP:0011401

Eclabium of lower lip

Occasional (5-29%)HP:0000232

Facial capillary hemangioma

Occasional (5-29%)HP:0000996

Flat light-brown mark on skin

Occasional (5-29%)HP:0000957

Hypoplasia of columella

Occasional (5-29%)HP:0002000

Increased intercanthal distance

Occasional (5-29%)HP:0000506

Inverted V-shaped upper lip

Occasional (5-29%)HP:0010804

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Related Conditions

Robin sequence(parent)

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

Brachydactyly(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 763744009
UMLS CUI: C4706564
Fully Specified Name: Intellectual disability, brachydactyly, Pierre Robin 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.