syndromic X-linked intellectual disability Shashi type

Characteristics of Syndromic X-linked Intellectual Disability, Shashi Type

Syndromic X-linked intellectual disability, Shashi type is a rare genetic disorder characterized by several distinct features.

• Moderate Intellectual Deficit: Individuals with this condition typically have moderately impaired intellectual development, which means they may experience difficulties with learning and cognitive tasks.
• Obesity: Obesity is a common feature of Shashi type, often accompanied by other physical characteristics.
• Macroorchidism: This refers to enlarged testicles, which are a distinctive physical trait associated with this condition.
• Characteristic Facies: The facial features of individuals with Shashi type may be distinct and characteristic, although the specific details are not always clearly described.

References

• [1] X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies. (Source: 1)
• [2] The Shashi type of X-linked syndromic intellectual developmental disorder (MRXSSH) is characterized by moderately impaired intellectual development. (Source: 3)
• [4] Definition: A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies ... (Source: 4)
• [6] Syndromic X-linked intellectual disability, known as Shashi type, is characterized by moderate intellectual deficit, obesity, macroorchidism, and a distinct ... (Source: 6)
• [7] X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ... (Source: 7)

Characteristics of Syndromic X-linked Intellectual Disability, Shashi Type

The Shashi type of X-linked syndromic intellectual developmental disorder (MRXSSH) is characterized by moderately impaired intellectual development and several distinct physical features. Some of the key signs and symptoms associated with this condition include:

• Moderate intellectual deficit: Individuals with MRXSSH typically experience moderate impairments in cognitive function, affecting their ability to learn, reason, and adapt to new situations.
• Obesity: Many people with Shashi type X-linked intellectual disability tend to be overweight or obese, which can further exacerbate related health issues.
• Macroorchidism: This condition is characterized by abnormally large testicles, which are a distinctive feature of MRXSSH.
• Characteristic facies: The facial features of individuals with Shashi type X-linked intellectual disability often include a specific set of characteristics, although these may vary from person to person.

Clinical Signs and Symptoms

According to various sources (3, 5, 8), the clinical signs and symptoms observed in X-linked intellectual disability, Shashi type, can be summarized as follows:

• Severe intellectual deficit
• Variable clinical manifestations

These features highlight the complexities of MRXSSH and underscore the need for comprehensive diagnostic evaluations.

References: [2][3][4][5][8]

Based on the available information, it appears that diagnostic tests for Shashi-Pena syndrome, a rare multiple malformation syndrome associated with X-linked intellectual disability, are crucial for accurate diagnosis.

• Clinical evaluation: The diagnosis of Shashi-Pena syndrome is established in a proband with suggestive clinical findings and a heterozygous mutation in the SHASHI gene [3].
• Genetic testing: Genetic tests related to Shashi-Pena Syndrome can help confirm the diagnosis. These tests may include chromosomal analysis, DNA sequencing, or other molecular diagnostic techniques [5].
• Imaging studies: Imaging studies such as X-ray examinations and brain MRI may be used in conjunction with genetic testing to support the diagnosis [2].

It is essential to note that a definitive diagnosis of Shashi-Pena syndrome requires a combination of clinical evaluation, genetic testing, and imaging studies. A multidisciplinary approach involving medical professionals from various specialties may be necessary for accurate diagnosis and management.

References:

[1] Dec 21, 2023 — Shashi-Pena syndrome is a rare multiple malformation syndrome that presents at birth with characteristic facial features, enlarged head ...

[2] by Y Wang · 2021 · Cited by 14 — Diagnosis of Shashi-Pena Syndrome Caused by ... test, Peabody test, X-ray examinations, and brain MRI.

[3] Nov 7, 2024 — Diagnosis/testing. The diagnosis of Shashi-Pena syndrome is established in a proband with suggestive clinical findings and a heterozygous ...

[5] Oct 10, 2024 — ... diagnostic genetic test for overgrowth. We obtained written consent ... , et al. Diagnosis of shashi-pena syndrome caused by chromosomal ...

Based on the available information, it appears that there is no specific cure or medication for ASXL syndromes, including the Shashi type, which is a form of syndromic X-linked intellectual disability.

• The treatment for these conditions typically involves supportive care to manage complications and symptoms, such as cardiology follow-up (1).
• There are no standard anti-seizure medications that are specifically used to treat seizures associated with ASXL syndromes (2-3).
• Management of ASXL syndromes requires an early multidisciplinary approach, focusing on feeding problems and thermoregulative abnormalities, but there is no specific medication or treatment for the underlying condition (6).

It's worth noting that individuals with ASXL syndromes may require intensive supportive care, including medications to manage symptoms such as seizures, but these are not targeted treatments for the underlying condition.

References:

(1) Context result 1 (2-3) Context result 2 and 3 (6) Context result 6

The differential diagnosis for syndromic X-linked intellectual disability, Shashi type (MRXS11) involves considering various conditions that present with similar clinical features.

Recognizable Dysmorphic Features

• Coarse facies [3][4]
• Prominent lower lip [3][4]
• Large testes [3][4]

These physical characteristics are often used to suggest the diagnosis of Shashi X-linked mental retardation syndrome. However, it's essential to note that these features can also be present in other conditions.

Other Conditions to Consider

• ASXL2-related disorders: A complex chromosomal rearrangement affecting ASXL2 has been identified as a pathogenic mechanism for Shashi-Pena syndrome [5].
• X-linked syndromic intellectual developmental disorder: This condition is characterized by recognizable dysmorphic features, neurological complications, and/or metabolic disturbances [7].

Genetic Considerations

• XLID is subdivided into syndromic and non-syndromic forms, depending on whether further abnormalities are found or not. Shashi X-linked mental retardation syndrome falls under the syndromic category [8].
• The RBMX gene has been proposed as a candidate for the Shashi X-linked intellectual disability syndrome [9].

Diagnostic Approach

To accurately diagnose MRXS11, clinicians must consider these differential diagnoses and perform comprehensive evaluations, including:

• Physical examination to assess coarse facies and other dysmorphic features
• Genetic testing to identify potential mutations in ASXL2 or RBMX genes
• Neurological evaluation to assess intellectual disability and any associated neurological complications

It's crucial for healthcare professionals to consult with specialists, such as geneticists or neurologists, when evaluating patients with suspected MRXS11.