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syndromic X-linked intellectual disability type 10
ICD-10 Codes
Related ICD-10:
Description
Syndromic X-linked intellectual disability type 10, also known as Siderius syndrome, is a rare genetic disorder that affects only males.
Characteristics:
- Mild intellectual deficit
- Choreoathetosis (involuntary movements)
- Abnormal behavior
This condition is characterized by a triad of limited or absent verbal communication, lack of reciprocal social interaction or responsiveness, and restricted, stereotypic behaviors. The symptoms can vary in severity and may include:
- Limited or absent verbal communication
- Lack of reciprocal social interaction or responsiveness
- Restricted, stereotypic behaviors
Prevalence: The exact prevalence of syndromic X-linked intellectual disability type 10 is unknown.
References:
- [2] - Syndromic X-linked intellectual disability type 10 is a condition characterized by mild intellectual deficit, choreoathetosis, and abnormal behavior.
- [3] - It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic behaviors.
Additional Characteristics
- Mild intellectual deficit
- Choreoathetosis (involuntary movements)
- Abnormal behavior
- Limited or absent verbal communication
- Lack of reciprocal social interaction or responsiveness
- Restricted, stereotypic behaviors
Signs and Symptoms
Intellectual Disability, Speech Impairment, and Developmental Delay
Individuals with syndromic X-linked intellectual disability type 10 (also known as ATR-X syndrome) exhibit a range of signs and symptoms. These include:
- Intellectual disability: Characterized by significant cognitive impairment, affecting verbal and non-verbal communication skills [1].
- Severe speech impairment: Individuals may have limited or absent verbal communication, making it difficult to express themselves effectively [1].
- Developmental delay: Affected people often experience delayed development from infancy, including intellectual disability, poor or absent speech, and delayed walking [3].
- Weak muscle tone (hypotonia): Many individuals with ATR-X syndrome have weak muscle tone, which can lead to delays in motor skills such as sitting, standing, and walking [4].
Additional Features
Other features associated with ATR-X syndrome include:
- Characteristic facial features: Individuals may exhibit distinctive facial characteristics, although these are not always present [5].
- Abnormalities of the genitourinary tract: Some people with ATR-X syndrome may experience abnormalities in their urinary and reproductive systems [5].
References
[1] - Characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic ...
[3] - Feb 13, 2024 — Affected people show developmental delay from infancy, with intellectual disability, poor or absent speech and delayed walking.
[4] - Aug 1, 2009 — Most affected children have weak muscle tone (hypotonia), which delays motor skills such as sitting, standing, and walking. Some people with ...
[5] - ATR-X syndrome is characterized by intellectual disability, characteristic facial features, abnormalities of the genitourinary tract and alpha thalassemia.
Additional Symptoms
- Intellectual disability
- Developmental delay
- Weak muscle tone (hypotonia)
- Characteristic facial features
- Severe speech impairment
- Abnormalities of the genitourinary tract
Diagnostic Tests
Based on the available information, diagnostic tests for syndromic X-linked intellectual disability type 10 (Snyder type) include:
- Molecular genetic testing to confirm the diagnosis [6]
- Targeted variant analysis [5]
- Chromosomal microarray and Next Generation Sequencing-based multigene panel or a comprehensive molecular genetic testing approach [3]
It's worth noting that these tests are typically used in conjunction with clinical evaluation and other diagnostic tools to determine the presence of this condition.
Additionally, a diagnostic test designed to identify genetic variants that cause isolated and complex (syndromic) neurodevelopmental delay and intellectual disability is also available [7]. This test may be useful in identifying the underlying genetic cause of syndromic X-linked intellectual disability type 10.
It's also mentioned that molecular genetic testing approaches can include a combination of chromosomal microarray and Next Generation Sequencing-based multigene panel or a comprehensive approach [3], which may be relevant for this condition as well.
References: [3] - Molecular genetic testing approaches can include a combination of chromosomal microarray and Next Generation Sequencing-based multigene panel or a comprehensive ... [5] - Available tests. 10 tests are in the database for this condition. Clinical tests (10 available). Molecular Genetics Tests. Targeted variant analysis (3) ... [6] - Magnetic resonance imaging (MRI) generally shows pontocerebellar hypoplasia/atrophy and simplified cortical gyri. Molecular genetic testing is needed to confirm ... [7] - A diagnostic test designed to identify genetic variants that cause isolated and complex (syndromic) neurodevelopmental delay and intellectual disability.
Additional Diagnostic Tests
- Targeted variant analysis
- Molecular genetic testing
- Chromosomal microarray
- Next Generation Sequencing-based multigene panel
- Comprehensive molecular genetic testing approach
Treatment
Based on the provided context, it appears that there are various types of syndromic X-linked intellectual disabilities, and treatment options may vary depending on the specific condition.
- For Alpha Thalassemia X-linked Intellectual Disability Syndrome (type 10), it is mentioned in search result [10
Recommended Medications
- bone marrow transplant
- blood transfusions
💊 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
Based on the provided context, differential diagnosis for syndromic X-linked intellectual disability type 10 includes:
- Börjeson-Forssman-Lehmann syndrome
- Wilson-Turner syndrome
- Smith-Fineman-Myers syndrome
These conditions are mentioned in search result [1] as part of the differential diagnosis for X-linked intellectual disability, Shashi type.
It's worth noting that while these conditions may present with similar symptoms to syndromic X-linked intellectual disability type 10, they have distinct clinical features and genetic causes. A thorough evaluation by a qualified healthcare professional is necessary to determine the correct diagnosis.
References: * [1] Search result mentioning differential diagnosis for X-linked intellectual disability, Shashi type.
Additional Differential Diagnoses
Additional Information
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- disease_ontology
- oboInOwl#id
- DOID:0060810
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- DOID:0060810
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- ORDO:85295
- IAO_0000115
- A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.
- oboInOwl#hasExactSynonym
- X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
- rdf-schema#label
- syndromic X-linked intellectual disability type 10
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- http://purl.obolibrary.org/obo/DOID_0060309
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- relatedICD
- http://example.org/icd10/G25.5
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1773
- owl#annotatedSource
- t345246
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