Ring chromosome 17 syndrome

disorder

SNOMED 778043005CUI C0795863

Overview

Ring chromosome 17 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.

Cafe-au-lait spots

Frequent (30-79%)HP:0000957

Decreased body height

Frequent (30-79%)HP:0004322

Dull intelligence

Frequent (30-79%)HP:0001249

Epilepsy

Frequent (30-79%)HP:0001250

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Retinal flecks

Frequent (30-79%)HP:0012045

Broad flat nasal bridge

Occasional (5-29%)HP:0000431

Clinodactyly

Occasional (5-29%)HP:0030084

Decreased size of cranium

Occasional (5-29%)HP:0000252

Fewer or absent grooves in brain

Occasional (5-29%)HP:0001339

Growth failure

Occasional (5-29%)HP:0001510

Hypoplastic mandible condyle

Occasional (5-29%)HP:0000347

Intrauterine growth retardation, IUGR

Occasional (5-29%)HP:0001511

Palpebronasal fold

Occasional (5-29%)HP:0000286

Peripheral hypotonia

Occasional (5-29%)HP:0001252

Specific learning disability

Occasional (5-29%)HP:0001328

Speech and language difficulties

Occasional (5-29%)HP:0000750

Syndactyly of feet

Occasional (5-29%)HP:0001770

Related Conditions

Anomaly of chromosome pair 17(parent)

Ring chromosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 778043005
UMLS CUI: C0795863
Fully Specified Name: Ring chromosome 17 syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.