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Disease Profile

Potocki-Shaffer 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

PSS; Deletion of chromosome 11p11.2; Proximal 11p deletion syndrome;

Categories

Chromosome Disorders; Congenital and Genetic Diseases

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 (non-cancerous) bone tumors called exostoses, intellectual disabilitydevelopmental 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]

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. 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. 

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
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

Treatment

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.

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

    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

        1. Chromosome 11. Genetics Home Reference (GHR). October, 2012; https://ghr.nlm.nih.gov/chromosome=11. Accessed 9/22/2015.
        2. 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.
        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. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33245/abstract. Accessed 9/22/2015.
        4. Potocki-Shaffer syndrome. OMIM. June 15, 2014; https://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. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33289/full#sec1-1. Accessed 9/22/2015.

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