Tetrasomy 5p

disorder

SNOMED 766755003CUI C0795813

Overview

Tetrasomy 5p 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.

Blue discoloration of the skin

Very frequent (80-99%)HP:0000961

Chronic heart failure

Very frequent (80-99%)HP:0001635

Chubby cheeks

Very frequent (80-99%)HP:0000293

Coarse face

Very frequent (80-99%)HP:0000280

Congenital hypotonia

Very frequent (80-99%)HP:0001319

Decreased projection of midface

Very frequent (80-99%)HP:0011800

Flat facial shape

Very frequent (80-99%)HP:0012368

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Increased size of skull

Very frequent (80-99%)HP:0000256

Long fingers

Very frequent (80-99%)HP:0100807

Nonsyndromal hydrocephalus

Very frequent (80-99%)HP:0000238

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Overlapping toes

Very frequent (80-99%)HP:0001845

Pectus excavatum

Very frequent (80-99%)HP:0000767

Pericallosal lipoma

Very frequent (80-99%)HP:0006931

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Pulmonary artery hypertension

Very frequent (80-99%)HP:0002092

Seizures

Very frequent (80-99%)HP:0001250

Small cerebellum

Very frequent (80-99%)HP:0001321

Small nose

Very frequent (80-99%)HP:0003196

Bilateral fifth digit clinodactyly

Frequent (30-79%)HP:0004209

Cardiac murmur

Frequent (30-79%)HP:0030148

Foot, talipes equinovarus

Frequent (30-79%)HP:0001762

Growth delay as children

Frequent (30-79%)HP:0008897

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased length of philtrum

Frequent (30-79%)HP:0000343

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Laboured breathing

Frequent (30-79%)HP:0002098

Low-set ears

Frequent (30-79%)HP:0000369

Related Conditions

Anomaly of chromosome pair 5(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 766755003
UMLS CUI: C0795813
Fully Specified Name: Tetrasomy 5p 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.