17q12 deletion syndrome

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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:

Congenital and Genetic Diseases

This disease is grouped under:

Chromosome 17q deletion

Summary 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]

Last updated: 5/31/2018

Symptoms 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.

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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	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
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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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2021

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Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations 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

17q12 Foundation
E-mail: chromosome17q12@gmail.com
Website: https://www.chromo17q12.org
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: info@rarechromo.org
Website: https://www.rarechromo.org/

Do you know of an organization? We want to hear from you.

Learn More 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.

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References References

17q12 deletion syndrome. Genetics Home Reference (GHR). April, 2017; https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome.
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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