8q21.11 microdeletion syndrome

disorder

SNOMED 718615003CUI C4305343

Overview

8q21.11 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.

Chubby cheeks

Very frequent (80-99%)HP:0000293

Cupid-bow shaped upper lip

Very frequent (80-99%)HP:0002263

Deafness

Very frequent (80-99%)HP:0000365

Decreased height of philtrum

Very frequent (80-99%)HP:0000322

Downturned corners of mouth

Very frequent (80-99%)HP:0002714

Dysmorphic facies

Very frequent (80-99%)HP:0001999

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Low-set ears

Very frequent (80-99%)HP:0000369

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Poor school performance

Very frequent (80-99%)HP:0001249

Round facies

Very frequent (80-99%)HP:0000311

Absent palm lines

Frequent (30-79%)HP:0010489

Blepharophimosis

Frequent (30-79%)HP:0000581

Corneal opacity

Frequent (30-79%)HP:0007957

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Hardening of skin and connective tissue

Frequent (30-79%)HP:0000647

High forehead

Frequent (30-79%)HP:0000348

Hypernasal voice

Frequent (30-79%)HP:0001611

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Increased nasal width

Frequent (30-79%)HP:0000445

Short neck

Frequent (30-79%)HP:0000470

Small nasal alae

Frequent (30-79%)HP:0000430

Squint

Frequent (30-79%)HP:0000486

Abnormal metacarpal morphology

Occasional (5-29%)HP:0005916

Abnormality of the sense of smell

Occasional (5-29%)HP:0004408

Cryptorchidism

Occasional (5-29%)HP:0000028

Dental anomalies

Occasional (5-29%)HP:0000164

Dermatitis

Occasional (5-29%)HP:0000964

High arched palate

Occasional (5-29%)HP:0000218

Hypoplasia of penis

Occasional (5-29%)HP:0008736

Related Conditions

8q partial monosomy syndrome(parent)

Quick Facts

SNOMED CT: 718615003
UMLS CUI: C4305343
Fully Specified Name: 8q21.11 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.