20q11.2 microduplication syndrome

disorder

SNOMED 763061004CUI C4706257

Overview

20q11.2 microduplication 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.

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Concave bridge of nose

Frequent (30-79%)HP:0005280

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased size of cranium

Frequent (30-79%)HP:0000252

Flat facial shape

Frequent (30-79%)HP:0012368

Gingival hyperplasia

Frequent (30-79%)HP:0000212

Hyperplasia of cheeks

Frequent (30-79%)HP:0000293

Hypoplasia of supraorbital margins

Frequent (30-79%)HP:0009891

Hypoplastic hands

Frequent (30-79%)HP:0004279

Microtia

Frequent (30-79%)HP:0008551

Moderate mental retardation

Frequent (30-79%)HP:0002342

Palpebronasal fold

Frequent (30-79%)HP:0000286

Periorbital edema

Frequent (30-79%)HP:0100539

Philtrum, Tented

Frequent (30-79%)HP:0011825

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Prominent eyes

Frequent (30-79%)HP:0000520

Prominent frontal suture

Frequent (30-79%)HP:0005487

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Retarded growth

Frequent (30-79%)HP:0001510

Retrognathia

Frequent (30-79%)HP:0000278

Scrotal cleft

Frequent (30-79%)HP:0000048

Severe myopia

Frequent (30-79%)HP:0011003

Small feet

Frequent (30-79%)HP:0001773

Small nose

Frequent (30-79%)HP:0003196

Speech and language difficulties

Frequent (30-79%)HP:0000750

Swelling of eyelids

Frequent (30-79%)HP:0100540

Tented upper lip

Frequent (30-79%)HP:0010804

Thickened facial skin with coarse facial features

Frequent (30-79%)HP:0000280

Abnormal morphology of the palpebral fissure

Occasional (5-29%)HP:0200005

Abnormality of lingual frenum

Occasional (5-29%)HP:0000190

Related Conditions

20q partial trisomy(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 763061004
UMLS CUI: C4706257
Fully Specified Name: 20q11.2 microduplication 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.