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

Bulbous nasal tip

Frequent (30-79%)HP:0000414

Chubby cheeks

Frequent (30-79%)HP:0000293

Decreased size of cranium

Frequent (30-79%)HP:0000252

Disproportionately large hands

Frequent (30-79%)HP:0001176

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

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

Lingual protrusion

Frequent (30-79%)HP:0010808

Loss of acquired milestones

Frequent (30-79%)HP:0002376

Macrotia

Frequent (30-79%)HP:0000400

Narrow head shape

Frequent (30-79%)HP:0000268

Neurofibroma

Frequent (30-79%)HP:0001067

Onset of lymphedema around puberty

Frequent (30-79%)HP:0001004

Palpebronasal fold

Frequent (30-79%)HP:0000286

partial or complete syndactyly 2nd-3rd toes

Frequent (30-79%)HP:0004691

Prominent lips

Frequent (30-79%)HP:0012471

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Retarded growth

Frequent (30-79%)HP:0001510

Seizures

Frequent (30-79%)HP:0001250

Small midface

Frequent (30-79%)HP:0011800

Small pointed chin

Frequent (30-79%)HP:0000307

Soft tissue swelling

Frequent (30-79%)HP:0000969

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.