Chromosome 2q37 deletion syndrome

disorder

SNOMED 702357000CUI C2931817

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.

Speech delay

Always present (100%)HP:0000750

Transverse excess of face

Always present (100%)HP:0000283

Broad, upturned nose

Very frequent (80-99%)HP:0000455

Central hypotonia

Very frequent (80-99%)HP:0001252

Delayed motor milestones

Very frequent (80-99%)HP:0001270

Hypotrophic midface

Very frequent (80-99%)HP:0011800

Low intelligence

Very frequent (80-99%)HP:0001249

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Round, full face

Very frequent (80-99%)HP:0000311

Type E brachydactyly

Very frequent (80-99%)HP:0005863

Zygomatic flattening

Very frequent (80-99%)HP:0000272

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Accessory nipples

Frequent (30-79%)HP:0002558

Autoagression

Frequent (30-79%)HP:0100716

Behavioral symptoms

Frequent (30-79%)HP:0000708

Bilateral fourth metatarsal shortening

Frequent (30-79%)HP:0004689

Bilateral single transverse palmar creases

Frequent (30-79%)HP:0007598

Brachydactyly

Frequent (30-79%)HP:0001156

Broad columella

Frequent (30-79%)HP:0010761

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Deep set eye

Frequent (30-79%)HP:0000490

Dermatillomania

Frequent (30-79%)HP:0012166

Dermatitis

Frequent (30-79%)HP:0000964

Disproportionately small hands

Frequent (30-79%)HP:0200055

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Frontal protuberance

Frequent (30-79%)HP:0002007

Loose-jointedness

Frequent (30-79%)HP:0001382

Mongoloid slant

Frequent (30-79%)HP:0000582

Related Conditions

Deletion of part of long arm of chromosome 2(parent)

Congenital malformation(parent)

Quick Facts

SNOMED CT: 702357000
UMLS CUI: C2931817
Fully Specified Name: Chromosome 2q37 deletion 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.