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Potocki-Shaffer syndrome


Información en español Title


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Other Names:
PSS; Deletion of chromosome 11p11.2; Proximal 11p deletion syndrome; PSS; Deletion of chromosome 11p11.2; Proximal 11p deletion syndrome; 11p11.2 deletion See More
Categories:
Chromosome Disorders; Congenital and Genetic Diseases

Summary Summary


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Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign (non-cancerous) bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism spectrum disorder,  and problems with vision and hearing. In some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract.[1][2] Multiple other features or health problems have been reported in individual cases.[3]

The features of Potocki-Shaffer syndrome result from the loss of several 
genes on the short (p) arm of chromosome 11. In particular, the deletion of a gene called ALX4 causes enlarged parietal foramina (openings in the two bones that form the top and sides of the skull), while the loss of another gene, EXT2, causes the multiple exostoses (benign bone tumors). Another condition called WAGR syndrome is caused by a deletion of genetic material in the p arm of chromosome 11, specifically at position 11p13. Occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. Individuals with such a deletion have signs and symptoms of both Potocki-Shaffer syndrome and WAGR syndrome.[1][2][4][

A referral to an early childhood intervention and developmental-behavioral specialist and evaluation for vision and hearing problems at the time of diagnosis is recommended. A full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, should also be completed.[4][5]
Last updated: 1/25/2018

Symptoms Symptoms


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The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. Signs and symptoms that may be present include but are not limited to:[5][4]

• Enlarged parietal foramina (openings in the two bones that form the top and sides of the skull)
• Multiple exostoses (multiple benign bone tumors)
• Intellectual disability
• Developmental delay
• Failure to thrive
• Autism
• Behavioral problems
• Deafness
• Myopia (nearsightedness)
• Nystagmus (rapid eye movement)
• Cataract (clouding of eye lens)
• Strabismus (cross-eyed)
• Aniridia (complete or partial absence of the iris (colored part of the eye))
• Distinct facial features (microcephaly, sparse eyebrows, prominent nose, small jaw)
• Kidney problems

MedlinePlus has information pages on some of these signs and symptoms or can direct to you other trusted websites that offer information. If you would like to read more, visit the link and search for the sign and symptom about which you would like to learn. 
Last updated: 1/25/2018

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.

Showing of 39 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Brachycephaly
Short and broad skull
0000248
Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
0000455
Decreased skull ossification
Decreased bone formation of skull
0004331
Depressed nasal tip
Caved in nasal tip
Depressed tip of nose
Flat nasal tip
Flat tip of nose
Flattened nasal tip
Nasal tip, depressed
[ more ]
0000437
Epicanthus
Eye folds
Prominent eye folds
[ more ]
0000286
Exostoses
Formation of new noncancerous bone on top of existing bone
0100777
Global developmental delay 0001263
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
0000426
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
30%-79% of people have these symptoms
Craniofacial dysostosis 0004439
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth
[ more ]
0002714
Micropenis
Small penis
Short penis
[ more ]
0000054
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Parietal foramina 0002697
Seizure 0001250
Short philtrum 0000322
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
5%-29% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Cutaneous syndactyly between fingers 2 and 5 0005650
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
0000823
Hypertension 0000822
Hypothyroidism
Underactive thyroid
0000821
Intellectual disability
Mental deficiency
Mental-retardation
Mental retardation, nonspecific
Mental retardation
[ more ]
0001249
Nephroblastoma 0002667
1%-4% of people have these symptoms
Brachydactyly
Short fingers or toes
0001156
Multiple exostoses 0002762
Muscular hypotonia
Low or weak muscle tone
0001252
Single transverse palmar crease 0000954
Sparse lateral eyebrow
Limited hair on end of eyebrow
0005338
Telecanthus
Corners of eye widely separated
0000506
Wormian bones
Extra bones within cranial sutures
0002645
Percent of people who have these symptoms is not available through HPO
Broad forehead
Increased width of the forehead
Wide forehead
[ more ]
0000337
Contiguous gene syndrome 0001466
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
High forehead 0000348
Short nose
Decreased length of nose
Shortened nose
[ more ]
0003196
Turricephaly
Tall shaped skull
Tower skull shape
[ more ]
0000262
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
Showing of 39 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Treatment Treatment


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The treatment depends on the signs and symptoms present in the affected individual.[5][3] The following treatment options or recommendations might be offered:
  • Treatment of Wilms tumor (type of kidney cancer), which may include surgery to remove the kidney, radiation therapy and chemotherapy.
  • Treatment of aniridia (complete or partial absence of iris (colored part of the eye)) is aimed at maintaining vision. Glaucoma (eye disease) or cataracts (clouding of the eye lens) can be treated with medication or surgery. Contact lenses should be avoided because they can damage the cornea.
  • In cases of abnormalities in the testes or ovaries, surgery may be needed to remove them or to prevent cancer (gonadoblastoma). After they testes or ovaries are removed hormone replacement is needed.
    Children with undescended testicles (cryptorchidism) may also need surgery.

In a study with 6 patients and a review of 31 previously reported cases of Potocki-Shaffer syndrome, the researchers made several recommendations for the care of children with the syndrome. These include:[5][3]

  • Referral to early childhood intervention and a developmental-behavioral specialist at the time of diagnosis;
  • A full skeletal survey at diagnosis or by age three;
  • Screening for strabismus (cross-eyed) and nystagmus (repetitive movement of the eyes) by the pediatrician (at every well-child examination), and referral to a pediatric ophthalmologist at diagnosis or by age six months;
  • Hearing loss evaluations in infants with the syndrome and after that at three months of age; audiogram at age one year and annually thereafter;
  • Fluorescence in situ hybridization (FISH) studies and genetic counseling should be offered to the parents of a child with Potocki-Shaffer syndrome;
  • Referral to a specialist in development and behavior at the time of diagnosis for vision therapy, physical, occupational and speech therapy;
  • Abdominal and kidney ultrasound due to the possible risk of developing a Wilms' tumor, especially in those individuals who have a deletion in the 11p13 region; 
  • Evaluation to detect any heart abnormalities;
  • Thyroid hormone level measurements to detect the hypothyroidism; and
  • MRI scans are recommended if the individual has seizures, microcephaly, or global developmental delay. 

Some individuals with Potocki-Shaffer syndrome, WAGR syndrome, and renal insufficiency may be treated with dialysis or kidney transplant.

Last updated: 1/25/2018

Prognosis Prognosis


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The outcome depends on the signs and symptoms that are present. The signs and symptoms are highly variable according to the length of the chromosome 11p deletion. Some affected people do not have any serious problems and have a fairly normal life and others are severely affected, unable to speak or walk or have severe kidney problems.[3]
Last updated: 9/22/2015

Find a Specialist Find a Specialist


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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 MedlinePlus Genetics.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Potocki-Shaffer syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Potocki-Shaffer syndrome:
    The CoRDS/IWSA Patient Registry
     

Organizations Organizations


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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/
  • International WAGR Syndrome Association
    PO Box 2875
    Montgomery Village, MD 20886
    E-mail: ReachingOut@wagr.org
    Website: http://www.wagr.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/

Social Networking Websites

  • Visit the Potocki Shaffer Syndrome Family Page group on Facebook.
  • Potocki-Shaffer Syndrome Website
    E-mail: http://www.potockishaffersyndrome.org/contact-us/
    Website: http://www.potockishaffersyndrome.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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 FAQs About Chromosome Disorders provides general information about chromosomes, what they do, the different types of chromosome disorders, and how they occur. This guide also provides suggestions for how to connect with other patients, locate research studies, and find additional information. 
  • MedlinePlus Genetics contains information on Potocki-Shaffer syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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


  1. Chromosome 11. Genetics Home Reference (GHR). October, 2012; http://ghr.nlm.nih.gov/chromosome=11. Accessed 9/22/2015.
  2. Potocki-Shaffer syndrome. Orphanet. March 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=52022.0. Accessed 9/22/2015.
  3. Swarr DT et al. Potocki-Shaffer syndrome: Comprehensive clinical assessment, review of the literature, and proposals for medical management. Am J Med Genet Part A. 2010; 152A(3):565-572. http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33245/abstract. Accessed 9/22/2015.
  4. Potocki-Shaffer syndrome. OMIM. June 15, 2014; http://omim.org/entry/601224#. Accessed 9/22/2015.
  5. Levenson D. New information, Recommendations for Potocki-Shaffer syndrome. Am J Med Genet. March, 2010; 152A(3):fm x. http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33289/full#sec1-1. Accessed 9/22/2015.
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