Potocki-Shaffer syndrome

Información en español Title

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

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 bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism 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] 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, while the loss of another gene, EXT2, causes the multiple exostoses. 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]^[3] A referral to an early childhood intervention and developmental-behavioral specialist at the time of diagnosis and to have an evaluation for vision and hearing problems, as well as a full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, is recommended.^[3]^[4]

Last updated: 9/22/2015

Symptoms Symptoms

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. The following signs and symptoms may be present:^[4]^[3]

• Enlarged parietal foramina
• Multiple exostoses
• Intellectual disability
• Developmental delay
• Failure to thrive
• Autism
• Behavioral problems
• Deafness
• Myopia (nearsightedness)
• Nystagmus
• Cataract
• Strabismus
• Aniridia
• Distinct facial features (microcephaly, epicanthus, sparse eyebrows, prominent nose, small mandible)
• 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 enter the sign and symptom about which you would like to learn.

Last updated: 9/24/2015

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Brachycephaly	Very frequent (present in 80%-99% of cases)
Broad nasal tip	Very frequent (present in 80%-99% of cases)
Decreased skull ossification	Very frequent (present in 80%-99% of cases)
Depressed nasal tip	Very frequent (present in 80%-99% of cases)
Epicanthus	Very frequent (present in 80%-99% of cases)
Exostoses	Very frequent (present in 80%-99% of cases)
Micrognathia	Very frequent (present in 80%-99% of cases)
Prominent nasal bridge	Very frequent (present in 80%-99% of cases)
Underdeveloped nasal alae	Very frequent (present in 80%-99% of cases)
Craniofacial dysostosis	Frequent (present in 30%-79% of cases)
Downturned corners of mouth	Frequent (present in 30%-79% of cases)
Micropenis	Frequent (present in 30%-79% of cases)
Nystagmus	Frequent (present in 30%-79% of cases)
Parietal foramina	Frequent (present in 30%-79% of cases)
Seizures	Frequent (present in 30%-79% of cases)
Short philtrum	Frequent (present in 30%-79% of cases)
Strabismus	Frequent (present in 30%-79% of cases)
Anemia	Occasional (present in 5%-29% of cases)
Cutaneous syndactyly between fingers 2 and 5	Occasional (present in 5%-29% of cases)
Delayed puberty	Occasional (present in 5%-29% of cases)
Hypertension	Occasional (present in 5%-29% of cases)
Hypothyroidism	Occasional (present in 5%-29% of cases)
Intellectual disability	Occasional (present in 5%-29% of cases)
Nephroblastoma	Occasional (present in 5%-29% of cases)
Brachydactyly	Very rare (present in 1%-4% of cases)
Multiple exostoses	Very rare (present in 1%-4% of cases)
Muscular hypotonia	Very rare (present in 1%-4% of cases)
Single transverse palmar crease	Very rare (present in 1%-4% of cases)
Sparse lateral eyebrow	Very rare (present in 1%-4% of cases)
Telecanthus	Very rare (present in 1%-4% of cases)
Wormian bones	Very rare (present in 1%-4% of cases)
Broad forehead	-
Contiguous gene syndrome	-
Downslanted palpebral fissures	-
High forehead	-
Short nose	-
Turricephaly	-
Wide nasal bridge	-

Last updated: 9/1/2017

Treatment Treatment

The treatment depends on the signs and symptoms present in the affected individual.^[4]^[5] The following treatment options or recommendations might be offered:

Treatment of Wilms tumor, which may include surgery to remove the kidney, radiation therapy and chemotherapy.
Treatment of aniridia is aimed at maintaining vision. Glaucoma or cataracts 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:^[4]^[5]

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 and nystagmus 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;
Cardiac 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: 9/22/2015

Prognosis Prognosis

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.^[5]

Last updated: 9/22/2015

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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
PO Box 724
Boca Raton, FL 33429
Telephone: 561-395-4252
E-mail: info@chromodisorder.org
Website: http://www.chromodisorder.org
International WAGR Syndrome Association
P.O. Box 769
Hanover, PA 17331
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: http://www.rarechromo.org

Social Networking Websites

Visit the Facebook Groups 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? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

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 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.
Genetics Home Reference (GHR) 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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Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
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August 10, 2017

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References References

Chromosome 11. Genetics Home Reference (GHR). October, 2012; http://ghr.nlm.nih.gov/chromosome=11. Accessed 9/22/2015.
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.
Potocki-Shaffer syndrome. OMIM. June 15, 2014; http://omim.org/entry/601224#. Accessed 9/22/2015.
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.
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.