Ring chromosome 7

disorder

SNOMED 765489006CUI C0795818

Overview

Ring chromosome 7 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.

Abnormality of the posterior fossa

Very frequent (80-99%)HP:0000932

Bilateral ptosis

Very frequent (80-99%)HP:0001488

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Cerebral cortex atrophy

Very frequent (80-99%)HP:0002120

Convex bridge of nose

Very frequent (80-99%)HP:0000426

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased height of philtrum

Very frequent (80-99%)HP:0000322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased volume of lip vermillion

Very frequent (80-99%)HP:0000233

Delayed motor milestones

Very frequent (80-99%)HP:0001270

Disorder of face

Very frequent (80-99%)HP:0000271

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Flat facial shape

Very frequent (80-99%)HP:0012368

Flat forehead

Very frequent (80-99%)HP:0004425

Global developmental delay, severe

Very frequent (80-99%)HP:0011344

Hyperplastic helix crus

Very frequent (80-99%)HP:0009899

Hypospadias

Very frequent (80-99%)HP:0000047

Low anterior hairline

Very frequent (80-99%)HP:0000294

Narrow mouth

Very frequent (80-99%)HP:0000160

Ocular hypotelorism

Very frequent (80-99%)HP:0000601

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Severe intrauterine growth retardation

Very frequent (80-99%)HP:0008846

Small earlobes

Very frequent (80-99%)HP:0000385

Speech articulation difficulties

Very frequent (80-99%)HP:0009088

Thick, flared eyebrows

Very frequent (80-99%)HP:0002553

Unilateral ptosis

Very frequent (80-99%)HP:0007687

Wide skull shape

Very frequent (80-99%)HP:0000248

Zygomatic flattening

Very frequent (80-99%)HP:0000272

Abnormal skin colour

Frequent (30-79%)HP:0001000

Related Conditions

Anomaly of chromosome pair 7(parent)

Ring chromosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 765489006
UMLS CUI: C0795818
Fully Specified Name: Ring chromosome 7 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.