Chromosome 19q13.11 deletion syndrome

Title

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Chromosome 19q13.11 deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on chromosome 19 at a location designated q13.11. People affected by this condition may have poor growth, severe feeding difficulties shortly after birth, developmental delay, learning disabilities, microcephaly (an unusually small head), hypospadias, and skin abnormalities.^[1]^[2] To date, all cases of chromosome 19q13.11 deletion syndrome appear to be sporadic and diagnosed in people with no family history of the condition.^[3] Treatment is based on the signs and symptoms present in each person.^[1]^[2]

Last updated: 10/10/2016

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
Aplasia cutis congenita	Absence of part of skin at birth	0001057
Cachexia	Wasting syndrome	0004326
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
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
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Hypospadias		0000047
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
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
30%-79% of people have these symptoms
Broad columella		0010761
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Dry skin		0000958
Fine hair	Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ]	0002213
Finger syndactyly		0006101
High forehead		0000348
Long face	Elongation of face Increased height of face Increased length of face Vertical elongation of face Vertical enlargement of face Vertical overgrowth of face [ more ]	0000276
Nail dysplasia	Atypical nail growth	0002164
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Retrognathia	Receding chin Receding lower jaw Weak chin Weak jaw [ more ]	0000278
Sparse hair		0008070
Sparse lateral eyebrow	Limited hair on end of eyebrow	0005338
Sparse or absent eyelashes		0200102
Supernumerary nipple	Accessory nipple	0002558
Thin skin		0000963
Thin vermilion border	Decreased volume of lip Thin lips [ more ]	0000233
Toe clinodactyly		0001863
Toe syndactyly	Fused toes Webbed toes [ more ]	0001770
Underdeveloped nasal alae	Underdeveloped tissue around nostril	0000430
Wide intermamillary distance	Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ]	0006610
5%-29% of people have these symptoms
Bifid scrotum	Cleft of scrotum	0000048
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Congenital hip dislocation	Dislocated hip since birth	0001374
Febrile seizure (within the age range of 3 months to 6 years)	Fever induced seizures	0002373
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Microcornea	Cornea of eye less than 10mm in diameter	0000482
Single median maxillary incisor	Only one upper front tooth	0006315
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Wide mouth	Broad mouth Large mouth [ more ]	0000154
Percent of people who have these symptoms is not available through HPO
Abnormal cardiac septum morphology		0001671
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Astigmatism	Abnormal curving of the cornea or lens of the eye	0000483
Autosomal dominant inheritance		0000006
Blepharophimosis	Narrow opening between the eyelids	0000581
Carious teeth	Dental cavities Tooth cavities Tooth decay [ more ]	0000670
Cutaneous finger syndactyly	Webbed fingers Webbed skin of fingers [ more ]	0010554
Feeding difficulties in infancy		0008872
Global developmental delay		0001263
Hypodontia	Failure of development of between one and six teeth	0000668
Inguinal hernia		0000023
Long palpebral fissure	Broad opening between the eyelids Long opening between the eyelids Wide opening between the eyelids [ more ]	0000637
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Macrotia	Large ears	0000400
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Overlapping toe	Overlapping toes Overriding toes [ more ]	0001845
Postnatal growth retardation	Growth delay as children	0008897
Ptosis	Drooping upper eyelid	0000508
Recurrent infections	Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ]	0002719
Reduced subcutaneous adipose tissue	Reduced fat tissue below the skin	0003758
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short palpebral fissure	Short opening between the eyelids	0012745
Short philtrum		0000322
Short stature	Decreased body height Small stature [ more ]	0004322
Single umbilical artery	Only one artery in umbilical cord instead of two	0001195
Sparse and thin eyebrow	Thin, sparse eyebrows	0000535
Sparse eyelashes	Scant eyelashes Scanty eyelashes Thin eyelashes [ more ]	0000653
Sporadic	No previous family history	0003745
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431

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Last updated: 7/1/2020

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

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/

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 Chromosome 19q13.11 deletion syndrome. This website is maintained by the National Library of Medicine.

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 Chromosome 19q13.11 deletion syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

GARD Answers GARD Answers

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.

References References

Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. J Med Genet. September 2009; 46(9):635-640.
Schuurs-Hoeijmakers JH, Vermeer S, van Bon BW, Pfundt R, Marcelis C, de Brouwer AP, de Leeuw N, de Vries BB. Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb. J Med Genet. June 2009; 46(6):421-423.
Chromosome 19q13.11 deletion syndrome. OMIM. September 2009; http://www.omim.org/entry/613026.

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