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Disease Profile

17q23.1q23.2 microdeletion 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.

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Infancy

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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.

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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)

17q23.1-q23.2 microdeletion syndrome; Del(17)(q23.1q23.2); Monosomy 17q23.1-q23.2;

Categories

Chromosome Disorders; Congenital and Genetic Diseases

Summary

17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Most cases are approximately 2.2 Mb in size and include the transcription factor genes TBX2 and TBX4 which have been implicated in a number of developmental pathways, including those of the heart and limbs.[1][2]

Symptoms

17q23.1q23.2 microdeletion syndrome is characterized by developmental delay, microcephaly, short stature, heart defects and hand, foot and limb abnormalities.[1][2] All individuals reported to date have had mild to moderate developmental delay, in particular delays in speech. Most have had heart defects, including patent ductus arteriosus or atrial septal defects. Limb abnormalities include long, thin fingers and toes, and hypoplasia (underdevelopment) of the patellae (knee caps). Scoliosis may also be present. Many patients have also had mild and unspecific unusual facial features.[1]

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
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

 0000750
Long fingers
0100807
Long toe
Increased length of toes
Long toes

[ more ]

 0010511
Mild global developmental delay
0011342
Moderate global developmental delay
0011343
30%-79% of people have these symptoms
Frontal bossing
0002007
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

 0001511
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

 0000252
Patent ductus arteriosus
0001643
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Short stature
Decreased body height
Small stature

[ more ]

 0004322
5%-29% of people have these symptoms
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

 0001631
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances

[ more ]

 0000708
Bifid nose
Indentation or clefting of the nose
0011803
Bilateral single transverse palmar creases
0007598
Blepharitis
Inflammation of eyelids
0000498
Bulbous nose
0000414
Chronic otitis media
Chronic infections of the middle ear
0000389
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Congenital contracture
0002803
Coxa magna
0003279
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
Dyspnea
Trouble breathing
0002094
Epicanthus
Eye folds
Prominent eye folds

[ more ]

 0000286
Failure to thrive
Faltering weight
Weight faltering

[ more ]

 0001508
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

 0002020
Hearing impairment
Deafness
Hearing defect

[ more ]

 0000365
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows

[ more ]

 0002553
Hyperreflexia
Increased reflexes
0001347
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

 0000316
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

 0001376
Long eyelashes
Increased length of eyelashes
Unusually long eyelashes

[ more ]

 0000527
Malar flattening
Zygomatic flattening
0000272
Muscular hypotonia
Low or weak muscle tone
0001252
Narrow mouth
Small mouth
0000160
Patellar hypoplasia
Small kneecap
Underdeveloped kneecap

[ more ]

 0003065
Pes planus
Flat feet
Flat foot

[ more ]

 0001763
Protruding ear
Prominent ear
Prominent ears

[ more ]

 0000411
Sacral dimple
Spinal dimple
0000960
Sandal gap
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe

[ more ]

 0001852
Scoliosis
0002650
Shallow acetabular fossae
0003182
Shawl scrotum
Scrotum surrounds penis
0000049
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

 0000486
Widely spaced teeth
Wide-spaced teeth
Widely-spaced teeth

[ more ]

 0000687
Percent of people who have these symptoms is not available through HPO
Abnormal facial shape
Unusual facial appearance
0001999
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

 0000718
Bicuspid aortic valve

Cause

The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in a variety of developmental pathways including those of heart and limbs, are found within this 2.2Mb region. This suggests that they may play a part in the symptoms seen in this condition.[1][2]

Diagnosis

The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH).[1]

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    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.

      In-Depth Information

      • 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 17q23.1q23.2 microdeletion syndrome. Click on the link to view a sample search on this topic.

        References

        1. Morichon-Delvallez N. 17q23.1q23.2 microdeletion syndrome. Orphanet. 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261279. Accessed 1/2/2013.
        2. Ballif et al. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet. 2010 Mar 12;86(3):454-61. .

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