Potocki-Lupski syndrome

Title

Other Names:

PTLS; Duplication 17p11.2 syndrome; Potocki-Lupski syndrome (dup(17)(p11.2p11.2))

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have some degree of developmental delay (primarily speech delay), low muscle tone, poor feeding, and failure to thrive during infancy. In addition, many individuals display some behaviors commonly associated with autism spectrum disorders. Some people with PTLS have a heart defect. While most cases of PTLS occur sporadically, in rare cases, it may be inherited. Treatment involves physical, occupational, and speech therapy, and/or medical or surgical treatment for heart defects.^[1]^[2]

Last updated: 8/16/2017

Symptoms Symptoms

The symptoms and severity of PTLS vary from person to person. In some cases, the features are subtle, and the diagnosis may be delayed.^[3] Symptoms of PTLS may include:^[3]^[1]^[4]

Congenital heart defects (present at birth) or heart problems that develop with age
Low muscle tone (hypotonia) beginning in infancy
Poor feeding beginning in infancy
Failure to thrive beginning in infancy
Developmental delay of motor and verbal milestones
Intellectual disability
Behavioral difficulties such as attention problems, hyperactivity, or withdrawal
Features of autism spectrum disorder
Neuropsychiatric disorders (such as bipolar disorder or anxiety disorder)
Sleep apnea, which often is not apparent but found during sleep studies

Further long-term studies of children and adults with PTLS are needed to identify the range of variability that can occur, any age-dependent issues that may arise over time, and to establish the long-term prognosis for people with PTLS.^[3]

Last updated: 8/17/2017

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
Abnormality of chromosome segregation		0002916
Attention deficit hyperactivity disorder	Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ]	0007018
Autism		0000717
Dysarthria	Difficulty articulating speech	0001260
Dysphasia		0002357
Echolalia		0010529
Expressive language delay		0002474
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Global developmental delay		0001263
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Muscular hypotonia	Low or weak muscle tone	0001252
Sleep apnea	Pauses in breathing while sleeping	0010535
30%-79% of people have these symptoms
Abnormality of cardiovascular system morphology		0030680
Anxiety	Excessive, persistent worry and fear	0000739
Broad forehead	Increased width of the forehead Wide forehead [ more ]	0000337
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
EEG abnormality		0002353
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
High hypermetropia	Severe farsightedness Severe long-sightedness [ more ]	0008499
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Oral-pharyngeal dysphagia	Difficulty swallowing	0200136
Poor fine motor coordination		0007010
Scoliosis	Abnormal curving of the spine	0002650
Speech apraxia		0011098
Triangular face	Face with broad temples and narrow chin Triangular facial shape [ more ]	0000325
5%-29% of people have these symptoms
Abnormality of dental morphology	Abnormality of dental shape Abnormally shaped teeth Deformity of teeth Dental deformity Dental malformations Malformed teeth Misshapen teeth Misshapened teeth [ more ]	0006482
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Hypothyroidism	Underactive thyroid	0000821
Low-set, posteriorly rotated ears		0000368
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Open bite	Absence of overlap of upper and lower teeth Open bite between upper and lower teeth [ more ]	0010807
Short stature	Decreased body height Small stature [ more ]	0004322
Wide mouth	Broad mouth Large mouth [ more ]	0000154
Percent of people who have these symptoms is not available through HPO
Abnormal renal morphology	Abnormally shaped kidney Kidney malformation Kidney structure issue Structural kidney abnormalities [ more ]	0012210
Abnormality of the cardiovascular system	Cardiovascular abnormality	0001626
Delayed myelination		0012448
Dental crowding	Crowded teeth Dental overcrowding Overcrowding of teeth [ more ]	0000678
Dental malocclusion	Bad bite Malalignment of upper and lower dental arches Misalignment of upper and lower dental arches [ more ]	0000689
Feeding difficulties in infancy		0008872
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hyperactivity	More active than typical	0000752
Hypermetropia	Farsightedness Long-sightedness [ more ]	0000540
Hypocholesterolemia	Decreased circulating cholesterol level	0003146
Language impairment		0002463
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
Patent foramen ovale		0001655
Poor eye contact		0000817
Prominent nasal tip	Large nasal tip Large tip of nose Prominent tip of nose Pronounced nasal tip Pronounced tip of nose [ more ]	0005274
Receptive language delay		0010863
Seizures	Seizure	0001250
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518
Smooth philtrum		0000319
Sporadic	No previous family history	0003745
Stereotypy	Repetitive movements Repetitive or self-injurious behavior [ more ]	0000733
Trigonocephaly	Triangular skull shape Wedge shaped skull [ more ]	0000243

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

Last updated: 2/1/2019

Do you have updated information on this disease? We want to hear from you.

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

Potocki-Lupski Syndrome Foundation (PTLS Foundation)
Attn: Julie Centeno
P.O.Box 250245
Plano, TX 75025
Telephone: 214-435-8288
E-mail: info@PTLSFoundation.org
Website: http://ptlsfoundation.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

The Potocki-Lupski Syndrome Foundation website provides information about Potocki-Lupski syndrome. The Potocki-Lupski Syndrome Foundation is an organization dedicated to furthering research while supporting and educating the medical community and families who have loved ones diagnosed with PTLS.
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 Duplications of 17p.

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.
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 Potocki-Lupski syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NIH Hosts Rare Disease Day Event, Twitter Chat
January 24, 2019

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.

Have a question? Contact a GARD Information Specialist.

References References

Potocki-Lupski Syndrome Information. Baylor College of Medicine. https://www.bcm.edu/departments/molecular-and-human-genetics/research/potocki-lupski-syndrome/syndrome-information. Accessed 8/16/2017.
Frequently Asked Questions (FAQs). Baylor College of Medicine. https://www.bcm.edu/departments/molecular-and-human-genetics/research/potocki-lupski-syndrome/frequently-asked-questions. Accessed 8/16/2017.
Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L. Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. Am J Med Genet A. February, 2014; 164A (2):500-504. https://www.ncbi.nlm.nih.gov/pubmed/24311450.
Neira-Fresneda J, Potocki L. Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes. J Pediatr Genet. September, 2015; 4(3):159-167. https://www.ncbi.nlm.nih.gov/pubmed/27617127.