syndromic X-linked intellectual disability 94

Syndromic X-linked intellectual disability 94, also referred to as MRXS94, is a rare genetic disorder characterized by moderate intellectual disability.

• The condition is associated with asthenic body habitus, which means that individuals may have a slender or thin build [9].
• Dysmorphic features are also present, indicating physical abnormalities that can vary in severity and type [9].
• Autistic-like behaviors and symptoms have been observed in some cases [9].

It's essential to note that each individual with MRXS94 may experience a unique combination of these characteristics. The condition is inherited in an X-linked recessive pattern, meaning it primarily affects males who inherit the mutated gene from their mother.

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Signs and Symptoms of Syndromic X-linked Intellectual Disability

Syndromic X-linked intellectual disability (XLID) is a group of genetic disorders that affect the X chromosome, leading to intellectual disability. The signs and symptoms of XLID can vary depending on the specific syndrome, but here are some common features:

• Intellectual Disability: Individuals with XLID often have significant delays in cognitive development, resulting in intellectual disability (IQ < 70) [7].
• Speech Impairment: Many people with XLID experience severe speech impairment or apraxia of speech, making it difficult to communicate effectively [6].
• Behavioral Problems: Some individuals with XLID may exhibit behavioral problems, such as hyperactivity, anxiety, and attention deficit hyperactivity disorder (ADHD) [8].
• Facial Features: Certain syndromes associated with XLID have distinct facial features, including anteverted nares, midface retrusion, and a narrow mouth [1, 4].
• Developmental Delays: Affected individuals often experience developmental delays in infancy, including delayed walking and poor or absent speech [2].

It's essential to note that the specific signs and symptoms of XLID can vary depending on the underlying syndrome. A comprehensive medical evaluation by a geneticist or other healthcare professional is necessary for an accurate diagnosis.

References: [1] Clinical features · Anteverted nares · Depressed nasal bridge · Drooling · Epicanthus · High palate · Midface retrusion · Narrow mouth · Prominent nasal bridge. [2] Feb 13, 2024 — Affected people show developmental delay from infancy, with intellectual disability, poor or absent speech and delayed walking. Characteristic ... [4] Clinical features · Abnormality of head or neck. Anteverted nares · Abnormality of limbs. Short digit · Abnormality of prenatal development or birth. Caesarian ... [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] Apr 1, 2020 — Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention ...

Based on the provided context, here are some diagnostic tests for syndromic X-linked intellectual disability:

• Molecular genetic testing: This is a recommended approach to confirm the diagnosis of X-linked intellectual disability. It involves analyzing specific genes and can include sequence analysis, deletion/duplication analysis, and targeted variant analysis [1][3].
• Next Generation Sequencing (NGS)-based multigene panel: This test is designed to identify genetic variants that cause isolated and complex (syndromic) neurodevelopmental delay and intellectual disability. It involves analyzing a panel of 114 genes associated with X-linked intellectual disability [7].
• Chromosomal microarray: This test can be used in combination with NGS-based multigene panel or comprehensive molecular genetic testing to identify chromosomal abnormalities that may contribute to syndromic X-linked intellectual disability [8].

It's worth noting that these tests are typically recommended for males with a family history consistent with X-linked inheritance and symptoms of syndromic intellectual disability [9]. Additionally, the diagnostic approach may involve a combination of clinical evaluation, imaging studies (such as MRI), and molecular genetic testing to confirm the diagnosis [4].

References: [1] - Context result 3 [3] - Context result 3 [7] - Context result 7 [8] - Context result 8 [9] - Context result 9

Based on the provided context, it appears that there are no specific curative treatments available for syndromic X-linked intellectual disabilities, including the one referred to as "syndromic X-linked intellectual disability 94".

• 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 effective [6].
• Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of these resources might be related to drug treatments, but it's not specified if they are specific for syndromic X-linked intellectual disability 94.

It is worth noting that the context mentions anticonvulsant medication being required in patients with seizures [1], but this does not seem to be directly related to the treatment of syndromic X-linked intellectual disabilities.

The differential diagnosis for syndromic X-linked intellectual disability involves identifying other conditions that may present with similar symptoms or clinical findings.

According to the search results, some of the main differential diagnosis options include:

• Börjeson-Forssman-Lehmann syndrome [2]
• Wilson-Turner syndrome [2]
• Smith-Fineman-Myers syndrome [2]
• ATR-X syndrome [6], which is characterized by intellectual disability, characteristic facial features, abnormalities of the genitourinary tract and alpha thalassemia.
• Other X-linked intellectual disability syndromes that involve similar symptoms or clinical findings [7]

It's also worth noting that nonsyndromic XLID should be ruled out, as it is characterized by intellectual disability in the absence of other symptoms or signs [4].

In addition, some conditions such as Autism Spectrum Disorder, Borderline intellectual functioning, Child Abuse & Neglect, and Posttraumatic Stress Disorder may also need to be considered in the differential diagnosis [5].