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2q37 Deletion Syndrome

Last updated March 24, 2018

2q37 Deletion Syndrome is a rare genetic disorder that can affect many body parts. The disorder is known to be caused by a deletion of genetic material - from a specific locus (37) of the long arm (q) of chromosome 2.

What are the other Names for this Condition? (Also known as/Symptoms)

  • Albright Hereditary Osteodystrophy-Like Syndrome
  • Brachydactyly-Mental Retardation Syndrome
  • Monosomy 2q37-qter

What is 2q37 Deletion Syndrome? (Definition/Background Information)

  • 2q37 Deletion Syndrome is a rare genetic disorder that can affect many body parts. The disorder is known to be caused by a deletion of genetic material - from a specific locus (37) of the long arm (q) of chromosome 2
  • The deletion may occur spontaneously, or can be due to genetic phenomena such as unbalanced translocation and chromosome ring formation. Additionally, scientists believe that mutations in the HDAC4 gene, which codes for a histone deacteylase enzyme, may be responsible for this syndrome
  • There are currently no risk factors associated with 2q37 Deletion Syndrome. In a small percentage though, a family history of this condition is observed to be a risk factor. The condition is manifested at birth
  • Some of the main signs and symptoms of 2q37 Deletion Syndrome include facial abnormalities, low muscle tone, feeding difficulties in newborns, congenital abnormalities in the heart and kidneys, problems with proper growth and development, intellectual disability, and autism spectrum disorders (ASD). The syndrome can lead to potential complications including seizures, heart defects, kidney malfunction, and short stature
  • The management of the various symptoms associated with 2q37 Deletion Syndrome may require the concerted effort by a team of healthcare specialists; with treatment being provided throughout the life of the affected individual
  • However, with prompt and continued care, the life span of an individual with this syndrome is reportedly not affected. However, the prognosis of 2q37 Deletion Syndrome depends upon the severity of the signs and symptoms; mild cases have better prognosis than individuals with severe conditions

Who gets 2q37 Deletion Syndrome? (Age and Sex Distribution)

  • 2q37 Deletion Syndrome is a rare genetic disorder with a currently unknown prevalence. Only about 100 cases have so far been recorded in medical history, although scientists believe that this condition may be under-diagnosed in many cases
  • The onset of symptoms associated with 2q37 Deletion Syndrome generally occurs at birth and evolves as the child grows and develops
  • Both male and female genders can be affected
  • No specific race or ethnic group is noted to have a higher risk for the condition

What are the Risk Factors for 2q37 Deletion Syndrome? (Predisposing Factors)

  • Although 2q37 Deletion Syndrome is a genetic condition, a positive family history is a relatively minor risk factor, since only 5% of the affected individuals are known to inherit 2q37 Deletion Syndrome
  • In the other 95% of affected individuals, the predisposing factors are largely unknown

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of 2q37 Deletion Syndrome? (Etiology)

2q37 Deletion Syndrome is caused by abnormalities in chromosome 2 as outlined below:

  • Loss of genetic material from the long arm (q) of chromosome 2 at a specific locus (37), due to a spontaneous deletion
    • This occurs during the formation of gametes (egg and sperm) or in the early fetal developmental stages
    • The deletion frequently occurs in the end or terminal of the chromosome, and the loss of genetic material could vary from one affected individual to another
    • The size of deletion could result in the loss of multiple genes, leading to the characteristic symptoms observed in individuals with 
  • Alteration in the structure of chromosome 2, owing to a phenomenon called “unbalanced translocation”, in the parents
    • A parent carries gamete cells (egg or sperm) which have a chromosomal re-arrangement. There is exchange of parts between chromosome 2 and another chromosome, as a result of which there is no loss of genetic material in that individual. This is termed “balanced translocation”
    • This is often the case with the inherited cases of the disorder
    • Balanced translocations are not reported to cause serious health issues in the “balanced translocation carriers”
    • Although, the balance could get lost in subsequent generations, in which case it is termed “unbalanced translocation”
    • When the translocation becomes “unbalanced,” loss of genetic material occurs from chromosome 2, leading to the characteristic traits of 2q37 Deletion Syndrome in the offspring
  • In a minority of cases, chromosomal abnormalities such as ring formation may lead to the syndrome. For example, chromosome 2 may break at two places and the new ends might fuse to form a ring, and genetic material from the broken piece may be lost
  • It has been reported that several individuals with a mutation in the HDAC4 gene (that codes for a class of enzymes known as histone deacetylases) exhibit symptoms of 2q37 Deletion Syndrome, even without the deletion of genetic material. This has prompted scientists to propose that mutations in HDAC4 gene may cause the syndrome as well

What are the Signs and Symptoms of 2q37 Deletion Syndrome?

The characteristic signs and symptoms of 2q37 Deletion Syndrome include:

  • Hypotonia (or reduced muscle tone) in a majority of newborns with the condition
  • Prominent forehead
  • Deep-set eyes, unnaturally arched eyebrows
  • A flat and broad nasal bridge; thin upper lip
  • Abnormal ears
  • Skin folds
  • Scant hair
  • Abnormally small fingers and toes (known as brachymetaphalangy)
  • Scoliosis (curvature in spine)
  • Hypermobility of joints
  • Failure to achieve developmental milestones; intellectual disability
  • Autism or autism spectrum disorders (that is noted in about 25% of affected individuals)
  • Obesity
  • Heart, kidney, and genitourinary tract defects

Note: The type and severity of symptoms are reported to vary even in individuals with comparable deletions of genetic material from chromosome 2.

How is 2q37 Deletion Syndrome Diagnosed?

The following methods may be employed to diagnose 2q37 Deletion Syndrome:

  • Physical examination
  • Evaluation of family medical history
  • An assessment of symptoms
  • Hearing assessment
  • Neurological studies to evaluate psychomotor and cognitive skills
  • Brain imaging studies, via magnetic resonance imaging (MRI) and computed tomography (CT) scans
  • Electroencephalogram (EEG) for monitoring seizures
  • X-ray to check the extent of spine curvature
  • Echocardiogram to check for heart abnormalities
  • Checking kidneys for malformation and/or malfunction
  • Analyses of behavioral issues
  • Genetic testing to check for 2q37 deletion (pre-natal or post-natal)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of 2q37 Deletion Syndrome?

Some potential complications from 2q37 Deletion Syndrome include:

  • Development of Wilms tumor, which is a rare form of kidney cancer
  • Congenital heart disease
  • Brain malformation
  • Central nervous system abnormalities
  • Issues with the gastrointestinal tract, such as acid reflux
  • Malformation of genitalia
  • Seizures
  • Inflammatory skin conditions such as eczema
  • Lack of intellectual development
  • Short stature

How is 2q37 Deletion Syndrome Treated?

For an effective treatment of 2q37 Deletion Syndrome, a multidisciplinary approach with care given by specialists from various medical fields may be necessary, such as the following:

  • Physiotherapy: To help improve the muscle tone
  • Neurology: For neurological symptoms such as seizures
  • Cardiology: To help with congenital or other cardiac defects
  • Nephrology: In case of development of renal abnormalities
  • Feeding specialist: To help address feeding issues in the baby
  • Dietician: To help reduce weight in case of obesity
  • Audiology: To address any hearing defects
  • Ophthalmology: For vision issues or vision loss
  • Nutrition specialist: For ensuring that all nutritional requirements are met for proper development
  • GI specialist: For assessment and treatment of conditions such as acid reflux
  • Speech therapist
  • Special education tutors
  • Child development and behavior therapist

Undertaking monitoring of symptoms as they evolve and providing with supportive care is important. Routine physical activity may be recommended to address obesity issues.

How can 2q37 Deletion Syndrome be Prevented?

  • Currently, there are no specific methods or guidelines to prevent 2q37 Deletion Syndrome, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as 2q37 Deletion Syndrome
  • Regular medical screening at periodic intervals with tests and physical examinations are strongly recommended 

What is the Prognosis of 2q37 Deletion Syndrome? (Outcome/Resolutions)

  • The prognosis of 2q37 Deletion Syndrome depends on the congenital defects and malformations observed in the individual
  • It depends upon the severity of the signs and symptoms; those with mild symptoms have better outcomes than those with severe symptoms
  • It has been reported that the lifespan is not compromised, if continued care is provided

Additional and Relevant Useful Information for 2q37 Deletion Syndrome:

Please visit our Congenital & Genetic Disorders Health Center for more physician-approved health information:


What are some Useful Resources for Additional Information?

References and Information Sources used for the Article:

Helpful Peer-Reviewed Medical Articles:

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Sept. 1, 2016
Last updated: March 24, 2018