2q37 deletion syndrome

Información en español Title

Other Names:

Chromosome 2q37 deletion syndrome; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-Intellectual disability syndrome

Categories:

Chromosome Disorders; Congenital and Genetic Diseases; Musculoskeletal Diseases; Chromosome Disorders; Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases See More

This disease is grouped under:

Chromosome 2q deletion

Summary Summary

2q37 deletion syndrome is a chromosome disease that can affect many parts of the body. About 100 cases have been reported worldwide. This condition is characterized by short stature, weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, autistic behavior, obesity, characteristic facial features, and other physical abnormalities, such as short bones of the hand and of 3-5 fingers, and abnormal lateral curvature of the spine (scoliosis). Other findings include seizures (20%-35%), congenital heart disease, brain abnormalities (hydrocephalus, dilated ventricles), umbilical/inguinal hernia, tracheomalacia, gastrointestinal abnormalities, and kidney malformations. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. Most cases are not inherited.^[1] Treatment depends on the symptoms and may require several specialists.^[2]

Last updated: 4/19/2017

Symptoms Symptoms

Most babies with 2q37 deletion syndrome are born with low muscle tone (hypotonia), which usually improves with age. About 25% of those with this syndrome have autism, a developmental condition that affects communication and social interaction. The characteristic facial features include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat nasal bridge, a thin upper lip, and minor ear abnormalities.^[1]

Other features can include:^[2]^[1]

Short stature
Obesity
Scoliosis
Tracheomalacia
Unusually short fingers and toes (brachymetaphalangy), especially of the fingers 3-5
Sparse hair
Heart defects
Seizures
A skin disorder called eczema

A few people with 2q37 deletion syndrome have a rare form of kidney cancer called Wilms tumor. Some individuals with 2q37 deletion syndrome can also have malformations of the brain, gastrointestinal system, kidneys, and/or genitalia.^[1]

Unique is a source of information and support to families and people with rare chromosome disorders. On their website, they have a pamphlet that provides additional information on the signs and symptoms of 2q37 deletion syndrome.

Last updated: 4/19/2017

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
Global developmental delay		0001263
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Muscular hypotonia	Low or weak muscle tone	0001252
Round face	Circular face Round facial appearance Round facial shape [ more ]	0000311
30%-79% of people have these symptoms
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Bilateral single transverse palmar creases		0007598
Brachydactyly	Short fingers or toes	0001156
Broad columella		0010761
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Downturned corners of mouth	Downturned corners of the mouth Downturned mouth [ more ]	0002714
Eczema		0000964
Finger syndactyly		0006101
Frontal bossing		0002007
Highly arched eyebrow	Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ]	0002553
Joint hyperflexibility		0005692
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Obesity	Having too much body fat	0001513
Seizures	Seizure	0001250
Short foot	Short feet Small feet [ more ]	0001773
Short metacarpal	Shortened long bone of hand	0010049
Short palm		0004279
Short stature	Decreased body height Small stature [ more ]	0004322
Small hand	Disproportionately small hands	0200055
Sparse and thin eyebrow	Thin, sparse eyebrows	0000535
Sparse scalp hair	Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ]	0002209
Supernumerary nipple	Accessory nipple	0002558
Thin vermilion border	Decreased volume of lip Thin lips [ more ]	0000233
Toe syndactyly	Fused toes Webbed toes [ more ]	0001770
Umbilical hernia		0001537
Underdeveloped nasal alae		0000430
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Wide intermamillary distance	Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ]	0006610
5%-29% of people have these symptoms
Abnormal aortic morphology		0001679
Arrhythmia	Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat [ more ]	0011675
Attention deficit hyperactivity disorder	Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ]	0007018
Autism		0000717
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Congenital diaphragmatic hernia		0000776
Laryngomalacia		0001601
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Multicystic kidney dysplasia		0000003
Nephroblastoma		0002667
Obsessive-compulsive behavior	Obsessive compulsive behavior	0000722
Pyloric stenosis		0002021
Sensorineural hearing impairment		0000407
Short neck	Decreased length of neck	0000470
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Stereotypy	Repetitive movements Repetitive or self-injurious behavior [ more ]	0000733
Subvalvular aortic stenosis		0001682
Tracheomalacia		0002779
Percent of people who have these symptoms is not available through HPO
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Autosomal dominant inheritance		0000006
Blepharophimosis	Narrow opening between the eyelids	0000581
Brachycephaly	Short and broad skull	0000248
Broad face	Increased breadth of face Increased width of face Wide face [ more ]	0000283
Broad nasal tip	Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ]	0000455
Coarse facial features	Coarse facial appearance	0000280
Congenital onset	Symptoms present at birth	0003577
Hyperactivity		0000752
Hyporeflexia		0001265
Malar flattening	Zygomatic flattening	0000272
Pain insensitivity		0007021
Self-injurious behavior	Self-injurious behaviour	0100716
Short metatarsal	Short long bone of foot	0010743
Short phalanx of finger	Short finger bones	0009803
Short toe	Short toes Stubby toes [ more ]	0001831
Somatic mutation		0001428
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445

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

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

Cause Cause

2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome (terminal deletion) at a location designated 2q37. The size of the deletion may vary from person to person with 2q37 deletion syndrome. The signs and symptoms of this syndrome are probably related to the loss of multiple genes in this region, especially pertaining to the loss of the HDAC4 gene.^[1] Mutations of the HDAC4 gene result in similar symptoms as the 2q37 deletion syndrome.^[2]

Most individuals with the 2q37 deletion syndrome have a de novo chromosome deletion and their parents have normal chromosomes. In about 5% of published cases, patients have inherited the deletion from a parent who has a balanced translocation. People with a balanced translocation do not have any losses or gains of genetic material and, in general, don't have symptoms.^[2]

Last updated: 4/19/2017

Inheritance Inheritance

Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.^[1]

Rarely, affected individuals inherit a copy of chromosome 2 with a deleted segment from an unaffected parent. In these cases, one of the parents carries a chromosomal rearrangement between chromosome 2 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Some individuals with 2q37 deletion syndrome inherit an unbalanced translocation that deletes genetic material near the end of the long arm of chromosome 2, which results in birth defects and other health problems characteristic of this disorder.^[1]

Last updated: 7/7/2011

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis should include other segmental aneusomy syndromes and Prader-Willi syndrome (see this term). AHO (pseudohypoparathyroidism; PHP) and pseudo-PHP (PPHP; see these terms) should also be included in the differential diagnosis but calcium, phosphorus, and parathormone levels are in the normal range in patients with deletion 2q37. Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

The differential diagnosis should include other segmental aneusomy syndromes and Prader-Willi syndrome (see this term). AHO (pseudohypoparathyroidism; PHP) and pseudo-PHP (PPHP; see these terms) should also be included in the differential diagnosis but calcium, phosphorus, and parathormone levels are in the normal range in patients with deletion 2q37.

Visit the Orphanet disease page for more information.

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 2q37 deletion syndrome. This website is maintained by the National Library of Medicine.
Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 2q37 deletion syndrome.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
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.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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 2q37 deletion syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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My niece has 2q37 deletion syndrome. I was wondering what causes it and if it can be a hidden trait. See answer

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References References

2q37 deletion syndrome. Genetics Home Reference. April 2009; http://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome. Accessed 7/7/2011.
Doherty ES & Lacbawan FL. 2q37 Microdeletion Syndrome [. GeneReviews. 2013; https://www.ncbi.nlm.nih.gov/books/NBK1158/.

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