4 free views remaining today

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

oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#id
DOID:0060810
core#notation
DOID:0060810
oboInOwl#hasDbXref
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
rdf-schema#subClassOf
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

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

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.