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Wilson-Turner syndrome
ICD-10 Codes
Related ICD-10:
Description
Wilson-Turner syndrome (WTS) is a rare genetic disorder that affects males, characterized by a range of physical and intellectual disabilities.
Physical Characteristics:
- Dysmorphic facial features [4]
- Hypogonadism [3][6][9]
- Short stature [4]
- Truncal obesity [1][2][6][7]
Intellectual Disability:
- Severe mental retardation [5]
- Intellectual disability is a hallmark of WTS, affecting mostly males [5]
Other Features:
- Gynecomastia (breast tissue development in males) [1][2][6][7]
- Speech impairment and variable behavioral issues [9]
WTS is an X-linked recessive neurologic disorder, meaning it is inherited in an X-linked pattern and primarily affects males. The exact cause of WTS is not well understood, but it is believed to be related to genetic mutations affecting the X chromosome.
References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [9] - Context result 9
Additional Characteristics
- Short stature
- Gynecomastia
- Dysmorphic facial features
- Hypogonadism
- Severe mental retardation
- Truncal obesity
- Speech impairment and variable behavioral issues
Signs and Symptoms
Wilson-Turner syndrome (WTS) is a rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. The principal features of WTS include:
- Mental retardation
- Obesity
- Gynecomastia
- Speech difficulties
- Emotional lability
- Tapering fingers
- Small feet
Additionally, individuals with WTS may also experience other signs and symptoms such as: * Hypogonadism (underdeveloped sex characteristics) * Dysmorphic facial features (abnormalities in the shape or structure of the face) * Short stature * Dental abnormalities (high arched palate, dental crowding or malocclusion) * Nail abnormalities (hypoplastic or hyperconvex nails) * Nevi (birthmarks)
It's worth noting that the symptoms of WTS can vary among individuals and may not be present in every person with the condition. The disease is caused by a mutation in the HDAC8 gene, which is located on the X chromosome.
According to [1], Wilson-Turner syndrome is characterized by intellectual disability and associated with childhood-onset obesity. Principal features are mental retardation, obesity, gynecomastia, speech difficulties, emotional lability, tapering fingers, and small feet [2]. Many other signs and symptoms may also be present.
References: [1] - The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group [3]. [2] - A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature [4]. [3] - ORPHA:3459 Wilson-Turner syndrome. [4] - Symptoms · Pubic hair is often present and normal. · Breast development may not occur. · Menstrual periods are absent or very light. · Vaginal dryness and pain with ...
Additional Symptoms
- Gynecomastia
- Emotional lability
- Speech difficulties
- Dental abnormalities
- Dysmorphic facial features
- Mental retardation
- Obesity
- Hypogonadism
- Tapering fingers
- Small feet
- Nail abnormalities
- Nevi
- short stature
Diagnostic Tests
Wilson-Turner syndrome, also known as mental retardation X linked syndromic 6 (MRXS6), and mental retardation X linked with gynecomastia and obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity. The diagnostic tests for Wilson-Turner syndrome are not explicitly mentioned in the search results, but based on general knowledge of genetic disorders, the following tests may be considered:
- Chromosome analysis: This test involves analyzing the chromosomes to determine if there is a mutation or deletion that could be causing the condition.
- Genetic testing: Specific genetic testing for the HDAC8 gene, which is linked to Wilson-Turner syndrome, may be performed to confirm the diagnosis.
- Physical examination: A thorough physical examination by a pediatrician or geneticist can help identify signs and symptoms of the condition, such as intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.
It's worth noting that a standard 30-cell karyotype analysis is required for diagnosis of Turner syndrome, in order to exclude mosaicism [6]. However, this information may not be directly applicable to Wilson-Turner syndrome.
A pelvic exam and other tests such as blood pressure screening, thyroid checks, blood tests for lipids and glucose, and hearing screening may also be done periodically [9].
It's always best to consult with a healthcare professional or a genetic counselor for accurate diagnosis and testing.
References: [1] - Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental retardation X linked with gynecomastia and obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity. [5] - It is found to be linked to the X chromosome and caused by a mutation in the HDAC8 gene, which is located on the q arm at ... [9] - Pelvic exam. Other tests that may be done periodically include: Blood pressure screening; Thyroid checks; Blood tests for lipids and glucose; Hearing screening ...
Additional Diagnostic Tests
- Physical examination
- Chromosome analysis
- Genetic testing for HDAC8 gene
- Pelvic exam
- Blood pressure screening
- Thyroid checks
- Blood tests for lipids and glucose
- Hearing screening
Treatment
Wilson-Turner syndrome (WTS) is a rare genetic disease that requires comprehensive management, including drug treatment to alleviate its symptoms.
Estrogen Replacement Therapy Estrogen replacement therapy is a common treatment for WTS, particularly in girls and women. This therapy helps regulate estrogen levels, which can help manage symptoms such as gynecomastia (breast development in males) and truncal obesity [4]. Estrogen replacement therapy typically starts around the age of 12 or 13 years old and is continued throughout adulthood [9].
Growth Hormone Therapy Growth hormone therapy may be prescribed to help children with WTS grow taller. This treatment can be particularly beneficial for individuals with growth hormone deficiency, which is a common feature of WTS [9].
Histone Deacetylase Inhibitors Research has shown that histone deacetylase (HDAC) inhibitors, such as panobinostat and romidepsin, may be effective in treating WTS. These drugs have been found to be universally effective across different forms of the disease and are more potent than doxorubicin [8].
Other Treatment Options While there is no known cure for WTS, treatment options are available to manage individual symptoms. For example, histone deacetylase 8 has been shown to regulate and stabilize cell genetic information, repairing damaged DNA and controlling gene activity [5]. However, more research is needed to fully understand the potential benefits of this enzyme in treating WTS.
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 [3].
References: [1] Not applicable [2] Not applicable [3] Context 3 [4] Context 6 [5] Context 5 [8] Context 8 [9] Context 9
Recommended Medications
- Growth Hormone Therapy
- Estrogen Replacement Therapy
- Histone Deacetylase Inhibitors (e.g., panobinostat, romidepsin)
- Histone deacetylase 8
💊 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
Wilson-Turner syndrome, also known as WNT syndrome, is a rare genetic disorder that affects females. The differential diagnosis for Wilson-Turner syndrome includes several other conditions that present with similar symptoms.
- Börjeson-Forssman-Lehmann syndrome: This condition is characterized by short stature, intellectual disability, and distinctive facial features. It is often associated with X-linked inheritance patterns [8].
- Smith-Fineman-Myers syndrome: Also known as SFPMS, this rare genetic disorder affects females and presents with a range of symptoms including short stature, intellectual disability, and characteristic facial features [10].
- Coffin-Lowry syndrome: This condition is caused by mutations in the RPS6KA3 gene and is characterized by physical abnormalities, intellectual disability, and distinctive facial features. It is often associated with X-linked inheritance patterns [8].
It's worth noting that Wilson-Turner syndrome is a rare condition, and its differential diagnosis can be complex due to overlapping symptoms with other genetic disorders.
References: [8] - Context 8 [10] - Context 10
Additional Differential Diagnoses
- Borjeson-Forssman-Lehmann syndrome
- non-syndromic X-linked intellectual disability
- syndromic intellectual disability
- syndromic X-linked intellectual disability
- syndromic X-linked intellectual disability 17
- syndromic X-linked intellectual disability 12
- syndromic X-linked intellectual disability 7
- syndromic X-linked intellectual disability type 10
- syndromic X-linked intellectual disability 34
- syndromic X-linked intellectual disability 14
- syndromic X-linked intellectual disability 94
- non-syndromic X-linked intellectual disability 106
- syndromic X-linked mental retardation 35
- non-syndromic X-linked intellectual disability 73
- non-syndromic X-linked intellectual disability 104
- non-syndromic X-linked intellectual disability 19
- non-syndromic X-linked intellectual disability 21
- female-restricted syndromic X-linked intellectual disability 99
- non-syndromic X-linked intellectual disability 89
- non-syndromic X-linked intellectual disability 81
- non-syndromic X-linked intellectual disability 96
- non-syndromic X-linked intellectual disability 100
- non-syndromic X-linked intellectual disability 91
- non-syndromic X-linked intellectual disability 93
- non-syndromic X-linked intellectual disability 53
- non-syndromic X-linked intellectual disability 101
- non-syndromic X-linked intellectual disability 88
- non-syndromic X-linked intellectual developmental disorder 111
- N syndrome
- Coffin-Lowry syndrome
Additional Information
- relatedICD
- http://example.org/icd10/P56.0
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1777
- owl#annotatedSource
- t345204
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- disease_ontology
- oboInOwl#id
- DOID:0060814
- oboInOwl#hasDbXref
- ORDO:3459
- oboInOwl#hasExactSynonym
- X-linked intellectual disability-gynecomastia-obesity syndrome
- IAO_0000115
- A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000149
- core#notation
- DOID:0060814
- rdf-schema#label
- Wilson-Turner syndrome
- rdf-schema#subClassOf
- t345678
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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