Rare Infectious Disease News

Disease Profile

17q12 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

#N/A

ICD-10

#N/A

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)

Chromosome 17q12 deletion syndrome; 17q12 microdeletion syndrome; Del(17)(q12);

Categories

Congenital and Genetic Diseases

Summary

17q12 deletion syndrome is a chromosome abnormality in which there is a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 17. Signs and symptoms can vary widely among people with this syndrome. More common signs and symptoms include abnormalities of the kidneys or urinary tract, a form of diabetes called maturity-onset diabetes of the young type 5 (MODY5), and mildly distinctive facial features. Other signs and symptoms may include developmental delay, intellectual disability, and behavioral or psychiatric disorders. Some people with 17q12 deletion syndrome have seizures, and/or abnormalities of the eyes, liver, brain, genitalia, or other body systems.[1][2]

17q12 deletion syndrome is inherited in an autosomal dominant manner; however, in most people with this syndrome, the deletion is not inherited from a parent and occurs sporadically. Less commonly, a person with 17q12 deletion syndrome inherits the deletion from a parent. Children of a person with the deletion have a 50% chance of inheriting the deletion.[1][2]

Treatment depends on the specific signs and symptoms in each person. Even in the absence of structural abnormalities of the kidneys, they should continue to be monitored for problems that may arise.[2]

Symptoms

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
Multicystic kidney dysplasia
0000003
30%-79% of people have these symptoms
Diabetes mellitus
0000819
Short stature
Decreased body height
Small stature

[ more ]

0004322
5%-29% of people have these symptoms
Abnormality of upper lip
0000177
Autism
0000717
Bilateral sensorineural hearing impairment
0008619
Cerebral atrophy
Degeneration of cerebrum
0002059
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Elevated hepatic transaminase
High liver enzymes
0002910
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face

[ more ]

0000324
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Focal impaired awareness seizure
0002384
Global developmental delay
0001263
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Horizontal nystagmus
0000666
Hyperconvex nail
Increased nail curvature
Nail overcurvature

[ more ]

0001795
Hypermetropia
Farsightedness
Long-sightedness

[ more ]

0000540
Hypertrichosis
0000998
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Language impairment
0002463
Large fontanelles
Wide fontanelles
0000239
Long fingers
0100807
Long toe
Increased length of toes
Long toes

[ more ]

0010511
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]

0000303
Nail dystrophy
Poor nail formation
0008404
Oligohydramnios
Low levels of amniotic fluid
0001562
Ovarian cyst
0000138
Pancreatic aplasia
Absent pancreas
0100801
Pica
0011856
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney

[ more ]

0008678
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Schizophrenia
0100753
Scoliosis
0002650
Seizure
0001250
Shawl scrotum
Scrotum surrounds penis
0000049
Short foot
Short feet
Small feet

[ more ]

0001773
Short palm
0004279
Small nail
Small nails
0001792
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Subcortical cerebral atrophy
0012157
Upper limb undergrowth
Short arms
Shortening of the arms

[ more ]

0009824
Ureterocele
0000070
Urethral stenosis
Narrowing of the urethra
0008661
Percent of people who have these symptoms is not available through HPO
Aplasia of the uterus
Absent uterus
uterus absent

[ more ]

0000151
Aplasia of the vagina
Absent vagina
0003250
Autosomal dominant inheritance
0000006
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
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
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Frontal bossing
0002007
High forehead
0000348
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows

[ more ]

0002553
Hydronephrosis
0000126

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 17q12 deletion syndrome. This website is maintained by the National Library of Medicine.
  • Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about 17q12 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.
    • 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.

      References

      1. 17q12 deletion syndrome. Genetics Home Reference (GHR). April, 2017; https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome.
      2. Mitche MW, Moreno-De-Luca D, Myers SM, Finucane B, Ledbetter DH, Martin CL. 17q12 Recurrent Deletion Syndrome. GeneReviews. December 8, 2016; https://www.ncbi.nlm.nih.gov/books/NBK401562/.

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