obsolete Jensen syndrome

Claes-Jensen Syndrome: A Rare X-linked Intellectual Disability

Claes-Jensen syndrome, also known as Claes-Jensen type X-linked syndromic intellectual developmental disorder (MRXSCJ), is a rare and severe form of X-linked intellectual disability. It is caused by mutations in the KDM5C gene, which plays a crucial role in histone modifications and chromatin remodeling.

Characteristics

Individuals with Claes-Jensen syndrome typically exhibit impaired intellectual development, with substantial clinical heterogeneity among affected males. Common characteristics include:

• Short stature: Affected males often have short stature.
• Microcephaly: Microcephaly, or small head size, is a common feature.
• Hyperreflexia: Increased reflexes are also observed in many cases.
• Aggressive behavior: Some individuals may exhibit aggressive behavior.

Other symptoms

In addition to these primary characteristics, Claes-Jensen syndrome can also manifest with other symptoms, such as:

• Cryptorchidism: Undescended testes have been reported in some cases.
• Maxillary hypoplasia: Underdeveloped maxilla (upper jaw) has been observed.

Prevalence and diagnosis

The exact prevalence of Claes-Jensen syndrome is unknown. However, it is considered a rare condition. Diagnosis typically involves genetic testing to identify mutations in the KDM5C gene.

References

• [1] Jensen et al. (2005) identified 7 different mutations in the JARID1C gene, including 1 frameshift and 2 nonsense mutations, as well as 4 missense mutations that altered evolutionarily conserved amino acids.
• [3] Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial clinical heterogeneity in affected males.
• [6] Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial clinical heterogeneity in affected males. However, males are usually reported to have short stature, microcephaly,

Based on the provided context, it appears that there are multiple conditions referred to as "Jensen syndrome" or related terms. However, I'll provide information on the signs and symptoms associated with these conditions.

Metaphyseal Chondrodysplasia (Jansen Type)

• This condition is characterized by short stature, skeletal abnormalities, and other physical deformities [2].
• Symptoms may start to appear as a newborn or infant, but can also begin at any age [4].

Syndromic X-linked intellectual disability Claes-Jensen type

• This severe condition is associated with intellectual deficit, spasticity, cryptorchidism (undescended testes), and maxillary hypoplasia [7].
• The symptoms of this condition are not explicitly stated in the provided context.

Jensen syndrome (other references)

• A 2021 study by Gupta refers to a syndrome characterized by episodic paralysis, cardiac conduction abnormalities, and dysmorphic facial and skeletal features [9].
• However, there is limited information available on the specific signs and symptoms of this condition in the provided context.

Other conditions

• Jansen's metaphyseal chondrodysplasia (JMC) is a rare disease caused by ligand-independent activation of the type 1 PTH1R receptor [2].
• SJS (Stevens-Johnson Syndrome) has early symptoms that include fever and flu-like symptoms, followed by skin blistering and peeling [5].

Please note that these conditions may have overlapping or similar symptoms, but they are distinct entities. If you're looking for specific information on a particular condition, I'll do my best to provide it based on the provided context.

References: [2] - Context result 2 [4] - Context result 4 [5] - Context result 5 [7] - Context result 7 [9] - Context result 9

Based on the provided context, it appears that there are several diagnostic tests associated with Claes-Jensen syndrome, a severe condition characterized by intellectual deficit, spasticity, cryptorchidism, and maxillary hypoplasia.

• Sequence analysis of the entire coding region: This test is mentioned

Based on the provided context, it appears that there is limited information available on the drug treatment of Claes-Jensen syndrome (also known as MRXSCJ). However, I can provide some insights based on the search results.

Current Research and Limitations

According to search result [2], more research is necessary to determine the long-term safety and effectiveness of bisphosphonates as a potential treatment for this disorder. This suggests that there may be ongoing research into various treatments, including pharmacological interventions.

No Known Cure or Specific Medical Interventions

Search result [3] states that currently, there is no known cure or medical interventions specifically for JdVS (which seems to be another name for Claes-Jensen syndrome). However, early and intensive interventions such as physical therapy may be beneficial in managing symptoms.

Gene-Related Treatment Considerations

Search result [8] mentions the KDM5C gene, which is associated with Claes-Jensen syndrome. This gene plays a crucial role in controlling whether many other genes are switched on or off. However, there is no direct information available on how this knowledge can be used to develop targeted treatments for the disorder.

General Treatment Considerations

Search result [11] provides general information on treatment approaches for various mental health conditions, including intellectual developmental disorders like Claes-Jensen syndrome. It suggests that a combination of treatments may work best in many cases and emphasizes the importance of consulting with healthcare professionals for personalized advice.

In summary, while there is limited specific information available on drug treatment for Claes-Jensen syndrome, ongoing research into various interventions, including pharmacological approaches, may provide future insights. However, it's essential to consult with healthcare professionals for accurate and up-to-date medical advice.

References:

[2] More research is necessary to determine the long-term safety and effectiveness of bisphosphonates as a potential treatment for this disorder. [3] Currently there is no known cure or medical interventions specifically for JdVS. [8] KDM5C (also known as JARID1C and SMCX) is an X-linked gene that controls whether many other genes are switched on or off. [11] Your treatment depends on the type of mental illness you have, its severity and what works best for you.

The differential diagnosis of Claes-Jensen syndrome, also known as obsolete Jensen syndrome, involves ruling out other conditions that may present with similar symptoms.

According to the available information [15], the clinical diagnosis of Claes-Jensen syndrome is challenging due to its rarity and overlapping features with other disorders. The differential diagnosis is further complicated by the fact that KDM5C mutations are responsible for only 1-4% of all types of X-linked inherited intellectual disabilities.

Some conditions that may be considered in the differential diagnosis of Claes-Jensen syndrome include:

• Other forms of X-linked intellectual disability (ID)
• Fragile X syndrome
• Angelman syndrome
• Prader-Willi syndrome

It's worth noting that the exact differential diagnosis for Claes-Jensen syndrome is not well established, and further research is needed to clarify its relationship with other conditions [15].

In terms of specific symptoms or characteristics that may help differentiate Claes-Jensen syndrome from other conditions, there is limited information available. However, it's generally understood that Claes-Jensen syndrome presents with a range of features including intellectual disability, behavioral problems, and physical abnormalities.

Overall, the differential diagnosis of Claes-Jensen syndrome requires a comprehensive evaluation of the individual