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Disease Profile
2q37 deletion syndrome
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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
Symptoms
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
Unique is a source of information and support to families and people with rare
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Global |
0001263 | |
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 | |
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 |
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 |
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 |
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
-
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: [email protected]
Website: https://www.rarechromo.org/
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
- 2q37 deletion syndrome. Genetics Home Reference. April 2009; https://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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