8p23.1 microdeletion syndrome

disorder

SNOMED 716381003CUI C2931638

Overview

8p23.1 microdeletion 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.

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Atrioventricular septal defect

Frequent (30-79%)HP:0006695

Behavioral changes

Frequent (30-79%)HP:0000708

Biparietal narrowing

Frequent (30-79%)HP:0004422

Childhood attention deficit/hyperactivity disorder

Frequent (30-79%)HP:0007018

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Dysplastic ears

Frequent (30-79%)HP:0000377

Growth failure

Frequent (30-79%)HP:0001510

Heart septal defect

Frequent (30-79%)HP:0001671

High arched palate

Frequent (30-79%)HP:0000218

High forehead

Frequent (30-79%)HP:0000348

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Hypospadias

Frequent (30-79%)HP:0000047

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Low-set ears

Frequent (30-79%)HP:0000369

Nasal hypoplasia

Frequent (30-79%)HP:0003196

Palpebronasal fold

Frequent (30-79%)HP:0000286

Poor speech

Frequent (30-79%)HP:0002465

Pulmonary artery stenosis

Frequent (30-79%)HP:0004415

Seizures

Frequent (30-79%)HP:0001250

Short neck

Frequent (30-79%)HP:0000470

Tapering fingers

Frequent (30-79%)HP:0001182

Weight loss

Frequent (30-79%)HP:0001824

Wide thorax

Frequent (30-79%)HP:0100625

Wide-spaced nipples

Frequent (30-79%)HP:0006610

Related Conditions

8p partial monosomy syndrome(parent)

Quick Facts

SNOMED CT: 716381003
UMLS CUI: C2931638
Fully Specified Name: 8p23.1 microdeletion 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.