5q23 microdeletion syndrome

disorder

SNOMED 1216940001CUI C5680042

Overview

5q23 microdeletion 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.

Delayed language development

Very frequent (80-99%)HP:0000750

Delayed motor milestones

Very frequent (80-99%)HP:0001270

Abnormalities of the fingers

Frequent (30-79%)HP:0001167

Arachnodactyly

Frequent (30-79%)HP:0001166

Cerebral white matter hypoplasia

Frequent (30-79%)HP:0012430

Cleft of palate

Frequent (30-79%)HP:0000175

Developmental dysplasia of the hip

Frequent (30-79%)HP:0001385

Fluid-filled cyst in spinal cord

Frequent (30-79%)HP:0003396

Foot, talipes equinovarus

Frequent (30-79%)HP:0001762

Fused forearm bones

Frequent (30-79%)HP:0002974

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Obstructive sleep apnea

Frequent (30-79%)HP:0002870

Overfolded helix

Frequent (30-79%)HP:0000396

Retraction of the tongue

Frequent (30-79%)HP:0000162

Thumb hypoplasia

Frequent (30-79%)HP:0009778

Abnormality of frontal sinus

Occasional (5-29%)HP:0002687

Abnormality of hippocampus morphology

Occasional (5-29%)HP:0025100

Arnold Chiari type I malformation

Occasional (5-29%)HP:0007099

Atria septal defect

Occasional (5-29%)HP:0001631

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Focal seizures

Occasional (5-29%)HP:0007359

Hypospadias

Occasional (5-29%)HP:0000047

Inguinal hernia

Occasional (5-29%)HP:0000023

Intoe

Occasional (5-29%)HP:0001840

Iris coloboma

Occasional (5-29%)HP:0000612

Lop ear

Occasional (5-29%)HP:0000394

Malformation of the columella

Occasional (5-29%)HP:0009929

Microtia

Occasional (5-29%)HP:0008551

Narrow, high-arched roof of mouth

Occasional (5-29%)HP:0002705

Overlapping toes

Occasional (5-29%)HP:0001845

Related Conditions

Developmental delay(parent)

Robin sequence(parent)

Deletion of part of long arm of chromosome 5(parent)

Genetic disease(parent)

Contracture of joint(parent)

Lesion of joint(parent)

Congenital anomaly of joint(parent)

Congenital deformity of musculoskeletal system(parent)

Quick Facts

SNOMED CT: 1216940001
UMLS CUI: C5680042
Fully Specified Name: Joint contractures, developmental delay, 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.