syndromic X-linked intellectual disability Claes-Jensen type

Syndromic X-linked Intellectual Disability Claes-Jensen Type

Claes-Jensen syndrome, also known as MRXSCJ, is a rare genetic disorder that affects males and females. It is characterized by impaired intellectual development, with variable clinical manifestations.

• Intellectual Disability: The primary feature of Claes-Jensen syndrome is severe intellectual deficit, which can range from mild to profound impairment.
• Variable Clinical Manifestations: In addition to intellectual disability, individuals with Claes-Jensen syndrome may exhibit a range of physical and behavioral symptoms, including:
  • Short stature
  • Microcephaly (small head size)
  • Hyperreflexia (exaggerated reflexes)
  • Aggressive behavior
• Carrier Females: Female carriers of the mutated KDM5C gene may experience mild intellectual impairment or learning disabilities.

Claes-Jensen syndrome is caused by mutations in the KDM5C gene, which codes for a histone lysine demethylase enzyme. This genetic mutation leads to impaired intellectual development and variable clinical manifestations.

References:

• [1] - Variable intellectual disability as well as short stature, microcephaly, hyperreflexia, and aggressive behavior in males (Source: 5)
• [2] - Severe intellectual deficit associated with variable clinical manifestations (Source: 6)
• [3] - Mild intellectual impairment or learning disabilities in carrier females (Source: 7)
• [4] - Intellectual deficit, spasticity, cryptorchidism, maxillary hypoplasia, and other physical abnormalities (Source: 8)

Signs and Symptoms of Syndromic X-linked Intellectual Disability Claes-Jensen Type

Syndromic X-linked intellectual disability Claes-Jensen type, also known as MRXSCJ, is a rare genetic disorder characterized by impaired intellectual development. The clinical features of this condition can vary among individuals, but some common signs and symptoms include:

• Impaired intellectual development: Individuals with MRXSCJ typically experience significant delays in cognitive development, leading to intellectual disability [1].
• Short stature: Both males and females with MRXSCJ have been reported to have short stature, which is a notable feature of this condition [4][6].
• Microcephaly: Some individuals with MRXSCJ may also experience microcephaly, or small head size [3][9].
• Hyperreflexia: Males with MRXSCJ are often reported to have hyperreflexia, which is an increased reflex response [3].
• Aggressive behavior: Aggressive behavior has been observed in males with MRXSCJ, although the frequency and severity of this symptom can vary [3].
• Facial dysmorphisms: Females with KDM5C-related disorder (which includes MRXSCJ) may experience facial dysmorphisms, which are abnormalities in the shape or structure of the face [6].

It's essential to note that not all individuals with MRXSCJ will exhibit all of these symptoms, and the severity of each symptom can vary significantly among affected individuals.

References:

[1] Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial ... [2] [3] However, males are usually reported to have short stature, microcephaly, hyperreflexia, and aggressive behavior. [3] [4] by Z Whitt · 2023 — It is associated with variable intellectual disability as well as short stature, microcephaly, hyperreflexia, and aggressive behavior in males. [4] [6] Females with KDM5C-related disorder have been reported as having short stature, facial dysmorphisms, and mild intellectual disability. [6] [9] by PM Wu · 2021 · Cited by 9 — The clinical manifestations included severe ID, epileptic seizure, slowly progressive spastic paraplegia, short stature, microcephaly, maxillary hypoplasia, and ... [9]

Diagnostic Testing for Syndromic X-linked Intellectual Disability Claes-Jensen Type

The diagnostic testing for syndromic X-linked intellectual disability Claes-Jensen type involves a combination of genetic and molecular analysis. According to the available clinical resources [1], the favored testing approach is exome-based NextGen sequencing with CNV (Copy Number Variation) analysis.

This comprehensive testing method allows for cost-effective reflexing to PGxome or other exome-based sequencing platforms, providing a detailed understanding of the genetic basis of the disorder [3].

Key Diagnostic Tests:

• Exome-based NextGen sequencing
• CNV analysis

These tests are designed to identify mutations in the KDM5C gene, which is associated with Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) [2][6]. The results of these tests can help confirm the diagnosis and provide valuable information for genetic counseling.

References:

[1] Clinical resource with information about Syndromic X-linked intellectual disability Claes-Jensen type and its clinical features, KDM5C, available genetic testing options. [2] Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial variability in severity [2][6]. [3] Our favored testing approach is exome-based NextGen sequencing with CNV analysis. This will allow cost-effective reflexing to PGxome or other exome-based sequencing platforms. [5] Integrated disease information for Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type including associated genes, mutations, and diagnostic testing options.

Note: The above answer is based on the provided context and search results.

Unfortunately, there are no specific treatments available for syndromic X-linked intellectual disability Claes-Jensen type (MRXSCJ). However, research is ongoing to explore potential therapeutic options.

According to the search results, although no treatments are currently available for KDM5C mutation-associated ID, the effects of WNT signaling modulators are being studied [8]. Additionally, a missense variation in the KDM5C gene associated with X-linked intellectual disability, growth failure, and epilepsy has been reported [9].

It's essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance and recommend any available options or emerging therapies.

Here are some key points to consider:

• No specific treatments are currently available for MRXSCJ.
• Research is ongoing to explore potential therapeutic options, including WNT signaling modulators.
• A missense variation in the KDM5C gene has been associated with X-linked intellectual disability, growth failure, and epilepsy.

Please note that these points are based on the search results provided. It's crucial to consult with a healthcare professional for accurate and up-to-date information on this topic.

References:

[8] Although no treatments are currently available for KDM5C mutation-associated ID, the effects of WNT signaling modulators are being studied. [9] A missense variation in the KDM5C gene associated with X-linked intellectual disability, growth failure, and epilepsy.

Based on the search results, here are some potential differential diagnoses for syndromic X-linked intellectual disability Claes-Jensen type:

1. Sotos syndrome: This is a rare genetic disorder characterized by excessive growth during childhood and intellectual disability.
2. X-linked intellectual disability (XLID): This is a broad category of disorders caused by mutations in genes on the X chromosome, leading to intellectual disability.
3. KDM5C-associated XLID: This is a specific type of XLID caused by mutations in the KDM5C gene, which is associated with Claes-Jensen syndrome.
4. X-linked mental retardation (XLMR): This is another term for XLID, and it encompasses a range of disorders caused by mutations in genes on the X chromosome.

Other potential differential diagnoses that may be considered based on specific clinical features or symptoms include:

• Fragile X syndrome: A genetic disorder caused by an expansion of the CGG repeat in the FMR1 gene, leading to intellectual disability and other physical and behavioral characteristics.
• Angelman syndrome: A rare genetic disorder characterized by intellectual disability, seizures, and speech difficulties.
• Prader-Willi syndrome: A genetic disorder caused by a deletion or mutation of the PWS/AS region on chromosome 15, leading to intellectual disability, obesity, and other physical and behavioral characteristics.

It's worth noting that these differential diagnoses may not be mutually exclusive, and individuals with Claes-Jensen type X-linked intellectual disability may exhibit features from multiple conditions. A comprehensive diagnostic evaluation by a multidisciplinary team of healthcare professionals is essential to determine the underlying cause of intellectual disability in an individual.