DeSanto-Shinawi syndrome

DeSanto-Shinawi Syndrome, also known as WAC Syndrome, is a rare genetic condition caused by defects in the WAC gene [1]. It is characterized by a variable degree of developmental delay and intellectual disability, decreased muscle tone (hypotonia), behavioral problems, eye abnormalities, constipation, feeding difficulties, and dysmorphic facial features such as a broad forehead and deep-set eyes [3][4].

Some common physical characteristics associated with DeSanto-Shinawi Syndrome include:

• Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually due to rounded and heavy features or thickened skin [5]
• Global developmental delay apparent in infancy or early childhood [6]
• Hypotonia (decreased muscle tone) [3][4]

The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the syndrome [2][4]. It's essential to note that each individual with DeSanto-Shinawi Syndrome may exhibit unique characteristics and symptoms.

References: [1] Context 1 [2] Context 1 [3] Context 3 [4] Context 4 [5] Context 5 [6] Context 6

Main Symptoms of DeSanto-Shinawi Syndrome

DeSanto-Shinawi syndrome, also known as WAC Syndrome, is a rare genetic disorder characterized by several distinct symptoms. The main signs and symptoms of this condition include:

• Global Developmental Delay: One of the earliest and most common symptoms of DeSanto-Shinawi syndrome is global developmental delay, which becomes apparent in infancy or early childhood [3][4].
• Hypotonia (Low Muscle Tone): Infants with DeSanto-Shinawi syndrome often experience hypotonia, leading to feeding problems and other motor skill difficulties [3].
• Dysmorphic Facial Features: Characteristic facial features of individuals with DeSanto-Shinawi syndrome include a broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes [5][12].
• Gastrointestinal Abnormalities: Many patients with DeSanto-Shinawi syndrome also experience gastrointestinal issues, such as feeding problems and other digestive difficulties.
• Intellectual Disability: Individuals with DeSanto-Shinawi syndrome often have intellectual disability, ranging from mild to severe [10].

Additional Symptoms

Other symptoms associated with DeSanto-Shinawi syndrome include:

• Behavioral abnormalities
• Malar hypoplasia (underdeveloped cheekbones)
• Macroglossia (enlarged tongue)
• Deep-set eyes

It's essential to note that the severity and presentation of these symptoms can vary significantly among individuals with DeSanto-Shinawi syndrome.

References: [1] Context result 2 [3] Context result 3 [4] Context result 3 [5] Context result 5 [10] Context result 10 [12] Context result 12

DeSanto-Shinawi syndrome, also known as DESSH syndrome, is a rare genetic disorder characterized by global developmental delay, dysmorphic facial features, and intellectual disability.

Diagnostic Tests

Diagnosing DeSanto-Shinawi syndrome can be challenging due to its rarity. However, several diagnostic tests can help reach a diagnosis:

• Physical Exam: A physical exam may reveal characteristic facial features such as a broad forehead, deep-set eyes, and a small nose [7].
• Molecular Confirmatory Studies: Molecular testing is usually needed to confirm the diagnosis of DeSanto-Shinawi syndrome. This may involve genetic testing to identify mutations in the WAC gene or other genes associated with the condition [6].
• Genetic Testing: Genetic testing can help identify the underlying cause of the disorder, which is often a deletion or mutation in the WAC gene [4].
• Brain Imaging Studies: Brain imaging studies such as MRI or CT scans may be performed to rule out other conditions that may present with similar symptoms [1].

Other Diagnostic Approaches

In addition to these diagnostic tests, specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA's AI technology can help speed up the diagnostic process by analyzing clinical features and suggesting potential diagnoses [3].

It is essential to consult with a qualified healthcare professional for an accurate diagnosis and treatment plan.

References:

[1] Context result 1: Diagnosis. Phenotypic and Brain Imaging Findings Associated With a 10p Proximal Deletion Including the WAC Gene: Case Report and Literature Review. [3] Context result 3: Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA's AI technology can help speed up the diagnostic process by analyzing clinical features and suggesting potential diagnoses. [4] Context result 4: The WAC gene is on chromosome 10 and codes for a protein that plays a role in different cellular and DNA processes, including processes important for brain development. [6] Context result 6: ... diagnosis based on a physical exam, but molecular confirmatory studies are usually needed. ... Currently there is no cure for DESSH syndrome, and the treatment plan focuses on managing symptoms and improving quality of life. [7] Context result 7: DeSanto-Shinawi syndrome is a rare genetic disorder characterized by global developmental delay, dysmorphic facial features like a broad forehead and deep-set eyes, and intellectual disability.

DeSanto-Shinawi Syndrome (DESSH) does not have a curative treatment, but there are strategies to manage its symptoms.

• Existing medications can be prescribed to treat problems such as hyperactivity and anxiety in DESSH patients [2].
• There is no specific drug treatment for DESSH, and the treatment relies on managing its symptoms [5].

However, some general approaches that may be helpful in managing the symptoms of DESSH include:

• Medications: Existing medications can be prescribed to treat problems such as hyperactivity and anxiety. However, there is no specific medication approved for the treatment of DESSH.
• Physiotherapy and occupational therapy: Children with DESSH often benefit from physiotherapy and occupational therapy to help manage their physical and developmental delays [3].
• Speech therapy: Some individuals with DESSH may also benefit from speech therapy to address delayed speech and language development [6].

It's worth noting that the DeSanto-Shinawi community is working to raise funds for research and treatment of DESSH, which may lead to new developments in the future [4].

DeSanto-Shinawi syndrome (DESSH) is a rare neurodevelopmental disorder, and as such, its differential diagnosis can be complex. However, based on the available information, here are some conditions that may be considered in the differential diagnosis of DESSH:

• PAX1 related otofaciocervical syndrome type 2: This condition is characterized by dysmorphic facial features, intellectual disability, and behavioral problems, which are similar to those found in DESSH [8].
• WAC syndrome (also known as DESSH or DSS): As mentioned earlier, WAC syndrome is another name for DeSanto-Shinawi syndrome. The deletion of the 10p12p11 region, which is associated with DESSH, can also be found in individuals with WAC syndrome [3].
• Differential diagnosis: In some cases, differential diagnosis may be performed to rule out other conditions that present with similar symptoms, such as attention deficit hyperactivity disorder (ADHD), anxiety, or atypical behavior [2].

It's essential to note that DESSH is a rare condition, and its differential diagnosis can be challenging. A comprehensive evaluation by a qualified healthcare professional is necessary to accurately diagnose and differentiate DESSH from other conditions.

References:

[1] Context result 2: "Differential diagnosis is often performed to rule out..." [3] Context result 3: "...WAC syndrome is also referred to as DeSanto-Shinawi syndrome (DESSH or DSS)." [8] Context result 8: "...One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2."