Disease Profile

2q37 deletion syndrome

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of Onset

Neonatal

ICD-10

Q93.5

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

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

Categories

Chromosome Disorders; Congenital and Genetic Diseases; Musculoskeletal Diseases;

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]

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.

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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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]

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.
    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
    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

    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

      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.

          References

          1. 2q37 deletion syndrome. Genetics Home Reference. April 2009; https://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/.