Ring chromosome 22 syndrome

disorder

SNOMED 13555004CUI C0265492

Overview

Ring chromosome 22 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.

Abnormal toenail development

Frequent (30-79%)HP:0100797

Autism spectrum disorder

Frequent (30-79%)HP:0000729

Azoospermia

Frequent (30-79%)HP:0000027

Decreased size of cranium

Frequent (30-79%)HP:0000252

Disproportionately large hands

Frequent (30-79%)HP:0001176

Dolichocephaly

Frequent (30-79%)HP:0000268

Edema

Frequent (30-79%)HP:0000969

Flat midface

Frequent (30-79%)HP:0011800

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Growth deficiency

Frequent (30-79%)HP:0001510

Impaired pain sensation

Frequent (30-79%)HP:0007328

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Inappropriate behavior

Frequent (30-79%)HP:0000719

Large pinnae

Frequent (30-79%)HP:0000400

Lingual protrusion

Frequent (30-79%)HP:0010808

Loss of milestones

Frequent (30-79%)HP:0002376

Lymphoedema

Frequent (30-79%)HP:0001004

Mental and motor retardation

Frequent (30-79%)HP:0001263

Neurofibroma

Frequent (30-79%)HP:0001067

Palpebronasal fold

Frequent (30-79%)HP:0000286

partial or complete syndactyly 2nd-3rd toes

Frequent (30-79%)HP:0004691

Potato nose

Frequent (30-79%)HP:0000414

Prominent lips

Frequent (30-79%)HP:0012471

Puffy cheeks

Frequent (30-79%)HP:0000293

Seizures

Frequent (30-79%)HP:0001250

Small pointed chin

Frequent (30-79%)HP:0000307

Speech difficulties

Frequent (30-79%)HP:0000750

Thick eyebrow

Frequent (30-79%)HP:0000574

Vertical enlargement of face

Frequent (30-79%)HP:0000276

Wide nasal base

Frequent (30-79%)HP:0012810

Related Conditions

Anomaly of chromosome pair 22(parent)

Ring chromosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 13555004
UMLS CUI: C0265492
Fully Specified Name: Ring chromosome 22 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.