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

2q37 deletion syndrome

Información en español


Other Names:
Chromosome 2q37 deletion syndrome; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-Intellectual disability syndrome
Categories:
This disease is grouped under:
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
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.

Showing of 72 |
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
Joints move beyond expected range of motion
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
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
Reduced/lack of hair on scalp
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
Underdeveloped tissue around nostril
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
Softening of voice box tissue
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
Narrowing of blood vessel below aortic heart valve
0001682
Tracheomalacia
Floppy windpipe
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
More active than typical
0000752
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ] 		0001265
Malar flattening
Zygomatic flattening
0000272
Narrow palpebral fissure
Small opening between the eyelids
0045025
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
Showing of 72 |
Last updated: 7/1/2020
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
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

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.

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

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.

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 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

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


  1. 2q37 deletion syndrome. Genetics Home Reference. April 2009; http://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome. Accessed 7/7/2011.
  2. Doherty ES & Lacbawan FL. 2q37 Microdeletion Syndrome [. GeneReviews. 2013; https://www.ncbi.nlm.nih.gov/books/NBK1158/.