Chromosome 22q11.2 microduplication syndrome

disorder

SNOMED 699311001CUI C2675369

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal vocalization

Frequent (30-79%)HP:0002167

Abnormality of the pharynx

Frequent (30-79%)HP:0000600

Central hypotonia

Frequent (30-79%)HP:0001252

Cleft of palate

Frequent (30-79%)HP:0000175

Decreased projection of midface

Frequent (30-79%)HP:0011800

Decreased transverse dimension of face

Frequent (30-79%)HP:0000275

Delayed language development

Frequent (30-79%)HP:0000750

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

High forehead

Frequent (30-79%)HP:0000348

Hypernasal voice

Frequent (30-79%)HP:0001611

Increased distance between eyes

Frequent (30-79%)HP:0000316

Palpebronasal fold

Frequent (30-79%)HP:0000286

Retruded nasal dorsum

Frequent (30-79%)HP:0000457

Abnormality of immune system physiology

Occasional (5-29%)HP:0010978

Autism

Occasional (5-29%)HP:0000717

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Decreased size of cranium

Occasional (5-29%)HP:0000252

Displacement of the external urethral orifice

Occasional (5-29%)HP:0100627

Epilepsy

Occasional (5-29%)HP:0001250

Excessive, persistent worry and fear

Occasional (5-29%)HP:0000739

Eyelid ptosis

Occasional (5-29%)HP:0000508

Flat philtrum

Occasional (5-29%)HP:0000319

Hydronephrosis

Occasional (5-29%)HP:0000126

Hypoacusis

Occasional (5-29%)HP:0000365

Hypoplastic mandible

Occasional (5-29%)HP:0000347

Increased nasal width

Occasional (5-29%)HP:0000445

Interrupted aortic arch

Occasional (5-29%)HP:0011611

Left ventricular hypoplasia

Occasional (5-29%)HP:0004383

OCD

Occasional (5-29%)HP:0000722

Related Conditions

22q partial trisomy(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 699311001
UMLS CUI: C2675369
Fully Specified Name: 22q11.2 duplication 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.