Chromosome 2q24 microdeletion syndrome

Title

Other Names:

2q24 microdeletion syndrome; Deletion 2q24; Monosomy 2q24; 2q24 microdeletion syndrome; Deletion 2q24; Monosomy 2q24; 2q24 deletion See More

Categories:

Chromosome Disorders; Congenital and Genetic Diseases; Eye diseases

This disease is grouped under:

Chromosome 2q deletion

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 1617

Disease definition

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

Visit the Orphanet disease page for more resources.

Last updated: 10/1/2014

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality iris morphology	Abnormality of the iris	0000525
Bullet-shaped distal phalanx of the hallux	Bullet-shaped outermost bone of big toe	0010078
Camptodactyly of finger	Permanent flexion of the finger	0100490
Cleft palate		0000175
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
Hand clenching	Clenched hands	0001188
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Long fingers		0100807
Low-set, posteriorly rotated ears		0000368
Neonatal hypotonia	Low muscle tone, in neonatal onset	0001319
Seizures	Seizure	0001250
Severe global developmental delay		0011344
Short neck	Decreased length of neck	0000470
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518
Toe syndactyly	Fused toes Webbed toes [ more ]	0001770
30%-79% of people have these symptoms
Abnormal oral frenulum morphology		0000190
Autistic behavior		0000729
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Coloboma	Notched pupil	0000589
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Microphthalmia	Abnormally small eyeball	0000568
Short philtrum		0000322
Small face	Short and narrow face Small facies [ more ]	0000274
5%-29% of people have these symptoms
Central apnea		0002871

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 12/1/2018

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Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Chromosome 2q24 microdeletion syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 2q24 microdeletion syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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