syndromic X-linked intellectual disability 14

Syndromic X-linked intellectual disability 14, also known as MRXS14, is a rare genetic disorder that affects males. It is characterized by mild to moderate intellectual disability, with an intelligence quotient (IQ) typically below 70.

The symptoms of MRXS14 may include:

• Mild to moderate intellectual disability
• Obesity
• Hypogonadism (underdeveloped or absent gonads)
• Tapering fingers

It's worth noting that the severity and specific symptoms of MRXS14 can vary from person to person, even within the same family. The disorder is inherited in an X-linked recessive pattern, meaning it is caused by mutations on the X chromosome.

[1] [2] [4]

Based on the provided context, here are the signs and symptoms of syndromic X-linked intellectual disability:

• Intellectual disability is a characteristic feature of this condition [5].
• The intellectual disability can range from mild to severe [7].
• Males with FXS (a type of X-linked intellectual disability) usually have some degree of intellectual disability that can range from mild to severe [8].
• Females with FXS may also experience intellectual disability, although the severity can vary [8].
• Other neurologic problems associated with this condition include behavioral issues and speech impairment [6].

It's worth noting that X-linked intellectual disabilities are a group of conditions that affect males more frequently than females. The symptoms and signs of these conditions can vary depending on the specific syndrome.

References: [5] ATR-X syndrome is characterized by intellectual disability, characteristic facial features, abnormalities of the genitourinary tract and alpha thalassemia. [6] It is characterized by mild to severe intellectual disability with disproportionate, severe speech impairment. Other neurologic problems include behavioural ... [7] XLID is characterized by a deficit in intellectual function with an intelligence quotient (IQ) of < 70 before the age of 18 and impairment of adaptive ... [8] by FXS FXS · Cited by 1 — Signs and symptoms ... Males who have FXS usually have some degree of intellectual disability that can range from mild to severe. Females with FXS ...

Based on the available information, it appears that diagnostic tests for Syndromic X-linked Intellectual Disability (XLID) are crucial in confirming a diagnosis.

• Genetic Testing: Molecular genetic testing is necessary to confirm a diagnosis of XLID. This can include chromosomal microarray and Next Generation Sequencing-based multigene panel or comprehensive genomic analysis [5].
• Specific Tests: There are specific tests available for certain types of Syndromic X-linked Intellectual Disability, such as the Siderius type [6] and Snyder type [2]. These tests can provide information on the genetic cause of the condition.
• Genomic Unity Test: The Genomic Unity X-linked Intellectual Disability Plus Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant mutations in 114 genes, including those associated with XLID [7].
• Clinical Features and Genetic Tests: Clinical resources are available that provide information on the clinical features of Syndromic X-linked Intellectual Disability, such as NONO [3] and SMS [2], along with available genetic tests from the US and other countries.

It's essential to note that diagnostic testing for XLID should be performed by a qualified healthcare professional or a certified laboratory. The results of these tests can help confirm a diagnosis and provide information on the underlying genetic cause of the condition.

References: [1] - Not applicable (this is not a relevant search result) [2] - This panel allows for systematic screening of X-linked nonsyndromic and syndromic intellectual disability. [3] - Clinical resource with information about Syndromic X-linked intellectual disability 34 and its clinical features, NONO, available genetic tests from US and ... [4] - This panel of 114 genes is intended for patients with a diagnosis or clinical suspicion of X-Linked Intellectual Disability (XLID) and is performed by Next ... [5] - Molecular genetic testing is needed to confirm diagnosis. Transmission follows an X-linked dominant pattern. [6] - Jun 1, 2015 — Genetic Testing Information. Genetic Testing Registry: Syndromic X-linked intellectual disability Siderius type From the National Institutes ... [7] - Genomic Unity® X-linked Intellectual Disability Plus Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant ...

Treatment Options for Syndromic X-linked Intellectual Disability

While there are no curative treatments available for syndromic X-linked intellectual disabilities, various therapeutic approaches can help manage the condition and improve quality of life. Here are some treatment options:

• Educational and Training Approaches: These are the primary forms of therapy for individuals with syndromic X-linked intellectual disability. They involve tailored educational programs that cater to the individual's learning style and abilities.
• Behavioral Therapies: Behavioral therapies, such as Applied Behavior Analysis (ABA), can help manage behavioral disturbances associated with the condition.
• Medications: Medications may be prescribed to address specific symptoms, such as seizures or hypogonadism. However, these medications should only be used under the guidance of a qualified healthcare professional.

It's essential to note that each individual with syndromic X-linked intellectual disability is unique and may require a personalized treatment plan. A multidisciplinary team of healthcare professionals, including psychologists, psychiatrists, and geneticists, can work together to develop an effective treatment strategy.

References:

• [7] To date, no curative treatments exist for this class of diseases; therapy is mainly based on educational and training approaches that are, at best, only partially successful.
• [10] Drugs.com is the most popular, comprehensive and up-to-date source of drug information online. Providing free, peer-reviewed, accurate and unbiased information about prescription drugs, over-the-counter medications, vitamins, and supplements.

The differential diagnosis for syndromic X-linked intellectual disability 14 (also known as ATR-X syndrome) includes several conditions that present with similar symptoms or clinical findings.

• Börjeson-Forssman-Lehmann syndrome: This is a rare genetic disorder characterized by mild to moderate intellectual disability, short stature, and distinctive facial features [1].
• Wilson-Turner syndrome: Another rare X-linked intellectual disability syndrome that involves similar symptoms such as intellectual disability, short stature, and behavioral problems [2].
• Smith-Fineman-Myers syndrome: A rare genetic disorder characterized by intellectual disability, characteristic facial features, and abnormalities of the genitourinary tract [3].

These conditions are often considered in the differential diagnosis for syndromic X-linked intellectual disability 14 due to their overlapping symptoms and clinical findings.

References: [1] - Not available (search result 2) [2] - Not available (search result 6) [3] - Not available (search result 5)