Trisomy 8p syndrome

disorder

SNOMED 768929003CUI C0795825

Overview

Trisomy 8p 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.

4th toe clinodactyly

Frequent (30-79%)HP:0011918

Abnormal curving of the cornea or lens of the eye

Frequent (30-79%)HP:0000483

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Absent/small gallbladder

Frequent (30-79%)HP:0011466

Annular pancreas

Frequent (30-79%)HP:0001734

Aplasia/Hypoplasia of the tragus

Frequent (30-79%)HP:0009913

Bilateral fifth digit clinodactyly

Frequent (30-79%)HP:0004209

Bilateral fourth metatarsal shortening

Frequent (30-79%)HP:0004689

Brachydactyly

Frequent (30-79%)HP:0001156

Cardiac murmur

Frequent (30-79%)HP:0030148

Cleft of palate

Frequent (30-79%)HP:0000175

Clinodactyly of the 2nd finger

Frequent (30-79%)HP:0040022

Clinodactyly of the 5th toe

Frequent (30-79%)HP:0001864

Cryptorchidism

Frequent (30-79%)HP:0000028

Curvature of big toe

Frequent (30-79%)HP:0040018

Decreased size of cranium

Frequent (30-79%)HP:0000252

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Dyschezia

Frequent (30-79%)HP:0002019

Flat nasal bridge

Frequent (30-79%)HP:0005280

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Grey sclerae

Frequent (30-79%)HP:0000592

Hearing loss, conductive

Frequent (30-79%)HP:0000405

Heterochromia iridis

Frequent (30-79%)HP:0001100

Hyperactive deep tendon reflexes

Frequent (30-79%)HP:0006801

Hyperopia

Frequent (30-79%)HP:0000540

Increased calcium level in kidney

Frequent (30-79%)HP:0000121

Increased distance between eyes

Frequent (30-79%)HP:0000316

Low posterior hair line

Frequent (30-79%)HP:0002162

Lung segmentation defects

Frequent (30-79%)HP:0002101

Mental retardation, severe

Frequent (30-79%)HP:0010864

Related Conditions

Partial trisomy of short arm of chromosome 8(parent)

Quick Facts

SNOMED CT: 768929003
UMLS CUI: C0795825
Fully Specified Name: Trisomy 8p 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.