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syndromic X-linked intellectual disability Siderius type
ICD-10 Codes
Related ICD-10:
Description
Syndromic X-linked intellectual disability, Siderius type (MRXSSD) is a rare genetic disorder that affects only males. It is characterized by mild to moderate intellectual disability, which means affected individuals may have difficulty with learning and cognitive skills.
Some common clinical features of MRXSSD include:
- Mild to moderate intellectual disability
- Long face
- Broad nasal tip
- Cleft lip or palate (in some cases)
- Low posterior hairline
- Prominent supraorbital ridges (bony prominences above the eyes)
- Sloping forehead
Individuals with MRXSSD may also experience delayed development of motor skills, such as walking, and their speech may be delayed. The condition is caused by mutations in the POU3F3 gene on the X chromosome.
It's worth noting that MRXSSD is a rare disorder, and more research is needed to fully understand its characteristics and effects on affected individuals. If you have any specific questions or concerns about this condition, I'll do my best to provide more information.
Additional Characteristics
- Delayed speech
- Sloping forehead
- Mild to moderate intellectual disability
- Broad nasal tip
- Low posterior hairline
- Long face
- Cleft lip or palate (in some cases)
- Prominent supraorbital ridges (bony prominences above the eyes)
- Delayed development of motor skills
Signs and Symptoms
Syndromic X-linked Intellectual Disability Siderius Type: Signs and Symptoms
Individuals with syndromic X-linked intellectual disability Siderius type may exhibit a range of signs and symptoms, including:
- Mild to borderline intellectual deficit: Affected males may have mildly impaired intellectual functioning, which can impact their daily life and activities [1].
- Cleft lip/palate: Some individuals with this condition may be born with cleft lip or palate, which can affect feeding, speech, and overall quality of life [3].
- Mild intellectual disability: Defined as an intelligence quotient (IQ) in the range of 50-69, mild intellectual disability can impact daily functioning and independence [4].
Other potential signs and symptoms may include:
- Long face
- Broad nasal tip
- Cleft lip or palate (in some cases)
- Low posterior hairline
- Prominent supraorbital ridges
It's essential to note that each individual with syndromic X-linked intellectual disability Siderius type may experience a unique set of symptoms, and not everyone will exhibit all of these signs [7].
References: [1] - Context result 2 [3] - Context result 3 [4] - Context result 4 [7] - Context result 7
Additional Symptoms
- Mild intellectual disability
- Broad nasal tip
- palate
- Low posterior hairline
- Long face
- Mild to borderline intellectual deficit
- Prominent supraorbital ridges
Diagnostic Tests
Diagnostic Tests for Syndromic X-linked Intellectual Disability Siderius Type
Syndromic X-linked intellectual disability Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Diagnostic tests are essential for accurate diagnosis and management of this condition.
- Clinical Molecular Genetics Test: A clinical molecular genetics test, specifically designed for syndromic X-linked intellectual disability Siderius type, can be used to diagnose the condition. This test involves deletion/duplication analysis and next-generation sequencing (NGS) [1].
- Next-Generation Sequencing (NGS) Test: An NGS test is a suitable diagnostic tool for individuals with clinical signs and symptoms, suspicion of, or family history of X-linked intellectual disability Siderius type. This test allows for the systematic screening of X-linked nonsyndromic and syndromic intellectual disability [5].
- Genetic Tests: Various genetic tests are available for diagnosing syndromic X-linked intellectual disability Siderius type. These include deletion/duplication analysis, NGS, and other molecular diagnostic techniques [4].
Recommended Diagnostic Approach
A comprehensive diagnostic approach is essential for accurate diagnosis of syndromic X-linked intellectual disability Siderius type. This may involve a combination of clinical evaluation, genetic testing, and molecular analysis.
- Clinical Evaluation: A thorough clinical evaluation is necessary to identify the characteristic features of this condition [3].
- Genetic Testing: Genetic testing, including deletion/duplication analysis and NGS, can help confirm the diagnosis [1].
References
[1] Clinical Molecular Genetics test for Syndromic X-linked intellectual disability Siderius type and using Deletion/duplication analysis, Next-Generation sequencing (NGS) test.
[3] Jun 1, 2015 — X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males.
[4] Clinical resource with information about Syndromic X-linked intellectual disability Siderius type and its clinical features, PHF8, available genetic tests.
[5] Oct 28, 2024 — This panel allows for systematic screening of X-linked nonsyndromic and syndromic intellectual disability.
Additional Diagnostic Tests
- Duplication Analysis
- Genetic Tests
- NGS
- Clinical Molecular Genetics Test
- Next-Generation Sequencing (NGS) Test
- Molecular Diagnostic Techniques
Treatment
Treatment Options for Syndromic X-linked Intellectual Disability, Siderius Type
According to the available information, treatment for syndromic X-linked intellectual disability, Siderius type involves a multi-faceted approach. Here are some of the treatment options:
- Behavioral Therapy: This type of therapy can help individuals with Siderius-type syndrome manage their behavioral issues and develop social skills.
- Pharmacological Treatment: Medications may be prescribed to control co-occurring disorders, such as attention deficit hyperactivity disorder (ADHD) or anxiety.
- Social Skills Therapy: This type of therapy can help individuals with Siderius-type syndrome improve their communication and social interaction skills.
It's worth noting that treatment should be tailored to the individual's specific needs and may involve a team of healthcare professionals, including psychologists, psychiatrists, and other specialists. [8][10]
Specialized Clinics
There are specialized clinics, such as the EpiChroma Clinic at Boston Children's Hospital, that provide care for individuals with epigenic or chromatin disorders, which may include syndromic X-linked intellectual disability, Siderius type.
These clinics can offer a range of services, including diagnosis, treatment, and management of associated conditions. [8]
Consulting a Healthcare Professional
It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual needs and circumstances. [4]
Recommended Medications
- Pharmacological Treatment
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Syndromic X-linked Intellectual Disability (Siderius Type): Differential Diagnosis
Syndromic X-linked intellectual disability, Siderius type is a genetic disorder characterized by impaired intellectual function and certain physical features. When considering the differential diagnosis for this condition, several other syndromes and disorders should be taken into account.
- Turner-type X-linked syndromic intellectual developmental disorder (MRXST): This neurodevelopmental disorder has a highly variable phenotype, with affected males exhibiting impaired intellectual function, among other symptoms. [1]
- Siderius-type syndromic intellectual developmental disorder (MRXSSD): An X-linked disorder characterized by mildly impaired intellectual function in affected males. [3]
- Autism x-linked 2: A pervasive developmental disorder typically evident by age 3, defined by limited verbal communication and lack of social interaction. [7]
- Down syndrome and fragile X syndrome: Examples of syndromic intellectual disabilities that should be considered in the differential diagnosis. Intellectual disability affects about 2–3% of the general population. [6]
Key Features to Consider
When differentiating between these conditions, consider the following key features:
- Impaired intellectual function
- Physical features such as long face, broad nose, and cleft lip/palate (in Siderius type)
- Presence of other symptoms or co-morbid features
References
[1] Turner-type X-linked syndromic intellectual developmental disorder (MRXST)
[3] Siderius-type syndromic intellectual developmental disorder (MRXSSD)
[6] Down syndrome and fragile X syndrome
[7] Autism x-linked 2
Additional Differential Diagnoses
- Turner-type X-linked syndromic intellectual developmental disorder (MRXST)
- Siderius-type syndromic intellectual developmental disorder (MRXSSD)
- Autism x-linked 2
- fragile X syndrome
Additional Information
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- Siderius-Hamel syndrome
- IAO_0000115
- A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22.
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- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000149
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.