4q21 microdeletion syndrome

disorder

SNOMED 719660008CUI C4304530

Overview

4q21 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.

Growth failure

Very frequent (80-99%)HP:0001510

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Severe psychomotor retardation

Very frequent (80-99%)HP:0011344

Speech delay

Very frequent (80-99%)HP:0000750

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Disproportionately small hands

Frequent (30-79%)HP:0200055

Flat nasal bridge

Frequent (30-79%)HP:0005280

Frontal protuberance

Frequent (30-79%)HP:0002007

Hypertrophy of cheeks

Frequent (30-79%)HP:0000293

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased width of the forehead

Frequent (30-79%)HP:0000337

Low-set ears

Frequent (30-79%)HP:0000369

Micromelia

Frequent (30-79%)HP:0002983

Short neck

Frequent (30-79%)HP:0000470

Short palm

Frequent (30-79%)HP:0004279

Small feet

Frequent (30-79%)HP:0001773

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Autism

Occasional (5-29%)HP:0000717

Autoagression

Occasional (5-29%)HP:0100716

Decreased volume of lip vermillion

Occasional (5-29%)HP:0000233

Dental anomalies

Occasional (5-29%)HP:0000164

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Downturned corners of mouth

Occasional (5-29%)HP:0002714

Eye drop

Occasional (5-29%)HP:0000508

Generalized hirsutism

Occasional (5-29%)HP:0002230

Hearing impairment

Occasional (5-29%)HP:0000365

High forehead

Occasional (5-29%)HP:0000348

Hunched back

Occasional (5-29%)HP:0002808

Related Conditions

4q partial monosomy syndrome(parent)

Quick Facts

SNOMED CT: 719660008
UMLS CUI: C4304530
Fully Specified Name: 4q21 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.