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Disease Profile
Potocki-Shaffer syndrome
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.
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Age of onset
Infancy
ICD-10
Q93.5
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
PSS; Deletion of chromosome 11p11.2; Proximal 11p deletion syndrome;
Categories
Chromosome Disorders; Congenital and Genetic Diseases
Summary
Potocki-Shaffer
The features of Potocki-Shaffer syndrome result from the loss of several
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]
Symptoms
• Enlarged parietal foramina (openings in the two bones that form the top and sides of the skull)
• Multiple exostoses (multiple benign bone
•
•
• Failure to thrive
•
• Behavioral problems
• Deafness
• Myopia (nearsightedness)
•
•
•
• Aniridia (complete or partial absence of the iris (colored part of the eye))
• Distinct facial features (
• 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.
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 | ||
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 | |
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 | |
0001250 | ||
Short philtrum | 0000322 | |
Strabismus |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 |
5%-29% of people have these symptoms | ||
Low number of red blood cells or hemoglobin
|
0001903 | |
Cutaneous |
0005650 | |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
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 | ||
Short fingers or toes
|
0001156 | |
Multiple exostoses | 0002762 | |
Muscular |
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 |
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 |
Treatment
- Treatment of Wilms tumor (type of kidney
cancer ), which may include surgery to remove the kidney,radiation therapy andchemotherapy . - Treatment of aniridia (complete or partial absence of iris (colored part of the eye)) is aimed at maintaining vision.
Glaucoma (eye disease ) orcataracts (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 removedhormone 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
- 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 forstrabismus (cross-eyed) andnystagmus (repetitive movement of the eyes) by thepediatrician (at every well-child examination), and referral to a pediatricophthalmologist 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 adeletion 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 hasseizures ,microcephaly , or globaldevelopmental delay .
Some individuals with Potocki-Shaffer syndrome, WAGR syndrome, and renal insufficiency may be treated with
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 (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: [email protected]
Website: https://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: [email protected]
Website: https://www.rarechromo.org/
Social Networking Websites
- Visit the Potocki Shaffer Syndrome Family Page group on Facebook.
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.
- 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.
References
- Chromosome 11. Genetics Home Reference (GHR). October, 2012; https://ghr.nlm.nih.gov/chromosome=11. Accessed 9/22/2015.
- Potocki-Shaffer syndrome. Orphanet. March 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=52022.0. 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. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33245/abstract. Accessed 9/22/2015.
- Potocki-Shaffer syndrome. OMIM. June 15, 2014; https://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. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33289/full#sec1-1. Accessed 9/22/2015.
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