National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

17q12 deletion syndrome


Other Names:
Chromosome 17q12 deletion syndrome; 17q12 microdeletion syndrome; Del(17)(q12); Chromosome 17q12 deletion syndrome; 17q12 microdeletion syndrome; Del(17)(q12); Monosomy 17q12; 17q12 recurrent deletion syndrome See More
Categories:
This disease is grouped under:
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] 
Last updated: 5/31/2018

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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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
Small stature
Decreased body height
[ 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 testis
Undescended testes
[ 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
Hyperechogenic kidneys 0004719
Hypoplasia of the bladder
Underdeveloped bladder
0005343
Malar flattening
Zygomatic flattening
0000272
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] 		0000010
Renal hypoplasia
Small kidneys
Underdeveloped kidneys
[ more ] 		0000089
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Stage 5 chronic kidney disease 0003774
Unicornuate uterus 0031909
Unilateral renal agenesis
Absent kidney on one side
Missing one kidney
Single kidney
[ more ] 		0000122
Ureteral atresia 0005999
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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/.