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

Potocki-Lupski syndrome


Other Names:
PTLS; Duplication 17p11.2 syndrome; Potocki-Lupski syndrome (dup(17)(p11.2p11.2))
Categories:
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
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
Echoing another person's speech
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 0200136
Poor fine motor coordination 0007010
Scoliosis 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
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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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

  • 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.

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  1. 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.
  2. 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.
  3. 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.
  4. 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.