Ring chromosome 13 syndrome

disorder

SNOMED 726723004CUI C0795847

Overview

Ring chromosome 13 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.

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Malformation of face

Very frequent (80-99%)HP:0001999

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Retarded growth

Very frequent (80-99%)HP:0001510

Abnormal skeletal development

Frequent (30-79%)HP:0002652

Ambiguous external genitalia

Frequent (30-79%)HP:0000062

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Flat nasal bridge

Frequent (30-79%)HP:0005280

Hypoplasia/absence of hand bones

Frequent (30-79%)HP:0005927

Hypospadias

Frequent (30-79%)HP:0000047

Increased distance between eyes

Frequent (30-79%)HP:0000316

Macrotia

Frequent (30-79%)HP:0000400

Nostrils anteverted

Frequent (30-79%)HP:0000463

Primary hypothyroidism

Frequent (30-79%)HP:0000832

Scrotal cleft

Frequent (30-79%)HP:0000048

Short penis

Frequent (30-79%)HP:0000054

Abnormal skin colour

Occasional (5-29%)HP:0001000

Abnormality of the incisor

Occasional (5-29%)HP:0000676

Absent anus

Occasional (5-29%)HP:0002023

Aplasia of the foot

Occasional (5-29%)HP:0011301

Aplastic/hypoplastic thumbs

Occasional (5-29%)HP:0009601

Autism

Occasional (5-29%)HP:0000717

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Decreased projection of mandible

Occasional (5-29%)HP:0000347

Fetal anencephaly

Occasional (5-29%)HP:0002323

Flat light-brown mark on skin

Occasional (5-29%)HP:0000957

Frontal protuberance

Occasional (5-29%)HP:0002007

Generalised decreased muscle tone

Occasional (5-29%)HP:0001290

Hair loss

Occasional (5-29%)HP:0001596

High arched palate

Occasional (5-29%)HP:0000218

Related Conditions

Anomaly of chromosome pair 13(parent)

Ring chromosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 726723004
UMLS CUI: C0795847
Fully Specified Name: Ring chromosome 13 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.