Rare Rheumatology News

Disease Profile

Potocki-Lupski syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q92.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

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

Categories

Congenital and Genetic Diseases; Nervous System Diseases

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]

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]

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of chromosome segregation
0002916
Abnormality of the pharynx
0000600
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

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.

      References

      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.

      Rare Rheumatology News