Potocki-Shaffer syndrome

Potocki-Shaffer Syndrome: A Rare Genetic Disorder

Potocki-Shaffer syndrome, also known as PSS, is a rare genetic disorder that affects the development of bones, nerve cells in the brain, and other tissues. This condition is characterized by a specific deletion on chromosome 11 (11p11.2), which leads to haploinsufficiency of the affected region.

Key Features:

• Global developmental delay [1]
• Intellectual disability [4]
• Multiple cartilaginous exostoses [3]
• Craniofacial abnormalities [3]
• Enlargement of the anterior fontanelle [4]
• Parietal foramina (abnormal openings in the skull) [8]

Causes and Effects:

Potocki-Shaffer syndrome is a contiguous gene deletion syndrome, meaning that the deletion affects multiple genes on chromosome 11p11.2. This deletion leads to haploinsufficiency of the affected region, resulting in the characteristic features of the condition.

Prevalence and Diagnosis:

PSS is an extremely rare disorder, with only a few reported cases worldwide. The diagnosis of PSS is typically made through genetic testing, which reveals the specific deletion on chromosome 11p11.2.

References:

• [1] May 1, 2016 — Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues.
• [3] A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial ...
• [4] Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual.
• [8] The disorder is associated with an enlarged parietal foramina which can cause openings in the two bones that form the top and sides of the skull.

Variability in Signs and Symptoms

The signs and symptoms of Potocki-Shaffer syndrome can vary widely among affected individuals [1]. In addition to multiple osteochondromas and enlarged parietal foramina, people with this condition often experience intellectual disability and delayed development of speech, motor skills (such as sitting and walking), and social skills [2].

Common Features

Many individuals with Potocki-Shaffer syndrome have distinctive facial features, which can include a wide, short skull [3]. Other common features may include:

• Intellectual disability
• Delayed development of speech, motor skills, and social skills
• Multiple osteochondromas (benign bone tumors)
• Enlarged parietal foramina (openings in the bones that form the top and sides of the skull)
• Craniofacial abnormalities
• Vision problems (such as myopia)
• Skeletal abnormalities

Additional Features

Some people with Potocki-Shaffer syndrome may also experience additional features, such as:

• Behavioral abnormalities
• Sensorineural hearing loss
• Strabismus (crossed eyes)

It's essential to note that the severity and range of symptoms can vary significantly among individuals with Potocki-Shaffer syndrome [4].

References

[1] The signs and symptoms of Potocki-Shaffer syndrome vary widely. In addition to multiple osteochondromas and enlarged parietal foramina, affected individuals often have intellectual disability and delayed development of speech, motor skills (such as sitting and walking), and social skills. [2] 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. [3] The signs and symptoms of Potocki–Shaffer syndrome vary widely. In addition to multiple osteochondromas and enlarged parietal foramina, affected individuals often have intellectual disability and delayed development of speech, motor skills (such as sitting and walking), and social skills.Many people with this condition have distinctive facial features, which can include a wide, short skull ... [4] Symptoms can vary widely and may include intellectual disability, delayed development, distinctive facial features, vision problems, skeletal abnormalities, and ...

Diagnostic Tests for Potocki-Shaffer Syndrome

Potocki-Shaffer syndrome, a rare genetic disorder, requires a comprehensive diagnostic approach to confirm the condition. The following tests are commonly used to diagnose and assess the severity of this syndrome:

• Skeletal Survey: A thorough examination of the bones using X-rays or other imaging techniques to identify any abnormalities, such as multiple exostoses (bone growths) [1].
• Magnetic Resonance Imaging (MRI): An MRI scan of the brain can help detect any developmental issues in the nerve cells and surrounding tissues [2].
• Renal Ultrasound: This test uses sound waves to create images of the kidneys, helping to identify any potential problems with kidney development or function.
• Complete Blood Count (CBC) and Comprehensive Metabolic Panel (CMP): These blood tests can help assess overall health and detect any abnormalities in blood cells or metabolic functions [1].
• Genetic Testing: Specific genetic testing may be recommended to confirm the presence of deletions in chromosome 11 (11p11.2), which is associated with Potocki-Shaffer syndrome [3][7].

These diagnostic tests can help specialists reach a diagnosis and develop an appropriate treatment plan for individuals with Potocki-Shaffer syndrome.

References:

[1] Diagnostic studies included skeletal survey, magnetic resonance imaging of the brain, renal ultrasound, complete blood count, comprehensive metabolic panel... (Search Result 1) [2] Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. (Search Result 6) [3] Potocki-Shaffer syndrome is a gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). (Search Result 7)

Treatment Options for Potocki-Shaffer Syndrome

Potocki-Shaffer syndrome, a rare genetic disorder, requires a comprehensive treatment approach to manage its various symptoms and manifestations. While there is no cure for the condition, medical professionals can provide supportive care to alleviate its effects.

• Medications: Treatment often involves medications to control symptoms such as epilepsy, intellectual disability, and developmental delay. Anti-epileptic drugs may be prescribed to manage seizures, while other medications can help address behavioral issues and cognitive impairments [8][11].
• Conservative management: In many cases, treatment is generally conservative, with a focus on managing symptoms rather than curing the underlying condition [15]. This approach may involve monitoring and addressing specific manifestations, such as enlarged parietal foramina or multiple exostoses.
• Surgical intervention: In some instances, surgical closure of persistent cranium bifidum (enlarged parietal foramina) may be necessary to prevent complications [15].

It is essential to note that treatment plans are tailored to the individual's specific needs and symptoms. A multidisciplinary team of healthcare professionals, including neurologists, geneticists, and other specialists, work together to develop a comprehensive care plan.

References:

[8] Context 8 [11] Context 11 [15] Context 15

Differential Diagnosis of Potocki-Shaffer Syndrome

Potocki-Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome that can be challenging to diagnose due to its variable presentation and overlap with other genetic conditions. Here are some key points to consider when making a differential diagnosis:

• Enlarged parietal foramina: This is a hallmark feature of PSS, but it can also be present in other conditions such as proximal 11p deletion syndrome (P11pDS), which is another contiguous gene deletion syndrome.
• Multiple exostoses: These are benign bone tumors that can occur in PSS, but they can also be found in other conditions such as multiple osteochondromas (MO).
• Intellectual disability and developmental delay: These features can be present in PSS, but they can also be seen in other genetic conditions such as Down syndrome or fragile X syndrome.
• Craniofacial abnormalities: These can occur in PSS, but they can also be found in other conditions such as craniosynostosis or facial dysmorphism.

Conditions to consider in the differential diagnosis of Potocki-Shaffer syndrome:

• Proximal 11p deletion syndrome (P11pDS)
• Multiple osteochondromas (MO)
• Down syndrome
• Fragile X syndrome
• Craniosynostosis
• Facial dysmorphism

Key features to look for in the differential diagnosis of Potocki-Shaffer syndrome:

• Enlarged parietal foramina
• Multiple exostoses
• Intellectual disability and developmental delay
• Craniofacial abnormalities

It's essential to consider these factors when making a differential diagnosis of PSS, as they can help guide further evaluation and management.

References:

[2] - Potocki-Shaffer syndrome is a gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2).

[12] - Proximal 11p deletion syndrome (P11pDS) (Potocki-Shaffer syndrome [PSS]) ... 2 are associated with enlarged parietal foramina in addition to other clinical features and should be considered in the differential diagnosis.

[13] - Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses (168500), and biparietal foramina (609597) (summary by Swarr et al., 2010).

[14] - Potocki-Shaffer syndrome (PSS) (OMIM 601224) is a contiguous gene deletion syndrome caused by heterozygous deletions of various sizes within the proximal portion of the short arm of chromosome ...