National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Chromosome 2q24 microdeletion syndrome


Other Names:
2q24 microdeletion syndrome; Deletion 2q24; Monosomy 2q24; 2q24 microdeletion syndrome; Deletion 2q24; Monosomy 2q24; 2q24 deletion See More
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1617

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

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
Cleft roof of mouth
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
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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Last updated: 7/1/2020

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

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.

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