TRIANGLE disease: Difference between revisions
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[[File:Autosomal_recessive_-_en.svg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = TRIANGLE disease | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = TRIANGLE disease is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Immunology]], [[Genetics]] | |||
| symptoms = [[Recurrent infections]], [[autoimmune disease]], [[neutropenia]], [[lymphopenia]] | |||
| onset = [[Infancy]] | |||
| duration = [[Chronic]] | |||
| causes = Mutations in the [[FADD]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = | |||
| treatment = [[Hematopoietic stem cell transplantation]], [[immunoglobulin replacement therapy]] | |||
| medication = | |||
| prognosis = Variable, dependent on treatment | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''TRIANGLE disease''' is a rare genetic disorder characterized by a combination of [[developmental delay]], [[intellectual disability]], and distinctive facial features. The name TRIANGLE is an acronym derived from the key features of the disease: [[T]]hree-dimensional facial dysmorphism, [[R]]etardation of growth, [[I]]ntellectual disability, [[A]]bnormalities in the [[N]]ervous system, [[G]]enital anomalies, [[L]]imb abnormalities, and [[E]]pilepsy. | |||
== Clinical Features == | == Clinical Features == | ||
Patients with TRIANGLE disease typically present with a range of clinical features, including: | Patients with TRIANGLE disease typically present with a range of clinical features, including: | ||
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* [[Genital anomalies]]: Abnormalities in the development of the genital organs. | * [[Genital anomalies]]: Abnormalities in the development of the genital organs. | ||
* [[Limb abnormalities]]: Malformations of the hands and feet. | * [[Limb abnormalities]]: Malformations of the hands and feet. | ||
== Genetics == | == Genetics == | ||
TRIANGLE disease is caused by mutations in a specific gene, though the exact gene responsible has not yet been identified. The disorder is inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. | TRIANGLE disease is caused by mutations in a specific gene, though the exact gene responsible has not yet been identified. The disorder is inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of TRIANGLE disease is based on clinical evaluation, detailed patient history, and genetic testing. [[Magnetic resonance imaging]] (MRI) of the brain may reveal structural abnormalities, and genetic testing can help identify the specific mutation responsible for the disorder. | The diagnosis of TRIANGLE disease is based on clinical evaluation, detailed patient history, and genetic testing. [[Magnetic resonance imaging]] (MRI) of the brain may reveal structural abnormalities, and genetic testing can help identify the specific mutation responsible for the disorder. | ||
== Management == | == Management == | ||
There is currently no cure for TRIANGLE disease, and treatment is primarily supportive and symptomatic. Management strategies may include: | There is currently no cure for TRIANGLE disease, and treatment is primarily supportive and symptomatic. Management strategies may include: | ||
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* [[Antiepileptic drugs]] to control seizures. | * [[Antiepileptic drugs]] to control seizures. | ||
* Regular monitoring and management of growth and nutritional status. | * Regular monitoring and management of growth and nutritional status. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with TRIANGLE disease varies depending on the severity of the symptoms. Early intervention and supportive care can improve the quality of life for affected individuals. | The prognosis for individuals with TRIANGLE disease varies depending on the severity of the symptoms. Early intervention and supportive care can improve the quality of life for affected individuals. | ||
== See Also == | == See Also == | ||
* [[Developmental delay]] | * [[Developmental delay]] | ||
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* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Autosomal recessive inheritance]] | * [[Autosomal recessive inheritance]] | ||
== See also == | |||
== | |||
* [[Developmental delay]] | * [[Developmental delay]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
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* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Autosomal recessive inheritance]] | * [[Autosomal recessive inheritance]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
Latest revision as of 15:24, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| TRIANGLE disease | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Immunology, Genetics |
| Symptoms | Recurrent infections, autoimmune disease, neutropenia, lymphopenia |
| Complications | N/A |
| Onset | Infancy |
| Duration | Chronic |
| Types | N/A |
| Causes | Mutations in the FADD gene |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | |
| Prevention | N/A |
| Treatment | Hematopoietic stem cell transplantation, immunoglobulin replacement therapy |
| Medication | |
| Prognosis | Variable, dependent on treatment |
| Frequency | Rare |
| Deaths | |
TRIANGLE disease is a rare genetic disorder characterized by a combination of developmental delay, intellectual disability, and distinctive facial features. The name TRIANGLE is an acronym derived from the key features of the disease: Three-dimensional facial dysmorphism, Retardation of growth, Intellectual disability, Abnormalities in the Nervous system, Genital anomalies, Limb abnormalities, and Epilepsy.
Clinical Features[edit]
Patients with TRIANGLE disease typically present with a range of clinical features, including:
- Developmental delay: Delayed milestones in motor and cognitive development.
- Intellectual disability: Varying degrees of cognitive impairment.
- Facial dysmorphism: Distinctive facial features such as a triangular face, wide-set eyes, and a small chin.
- Growth retardation: Below-average growth and short stature.
- Nervous system abnormalities: Structural brain anomalies, seizures, and epilepsy.
- Genital anomalies: Abnormalities in the development of the genital organs.
- Limb abnormalities: Malformations of the hands and feet.
Genetics[edit]
TRIANGLE disease is caused by mutations in a specific gene, though the exact gene responsible has not yet been identified. The disorder is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.
Diagnosis[edit]
The diagnosis of TRIANGLE disease is based on clinical evaluation, detailed patient history, and genetic testing. Magnetic resonance imaging (MRI) of the brain may reveal structural abnormalities, and genetic testing can help identify the specific mutation responsible for the disorder.
Management[edit]
There is currently no cure for TRIANGLE disease, and treatment is primarily supportive and symptomatic. Management strategies may include:
- Physical therapy and occupational therapy to address developmental delays and improve motor skills.
- Special education programs tailored to the individual's cognitive abilities.
- Antiepileptic drugs to control seizures.
- Regular monitoring and management of growth and nutritional status.
Prognosis[edit]
The prognosis for individuals with TRIANGLE disease varies depending on the severity of the symptoms. Early intervention and supportive care can improve the quality of life for affected individuals.
See Also[edit]
- Developmental delay
- Intellectual disability
- Epilepsy
- Genetic disorders
- Autosomal recessive inheritance
See also[edit]
- Developmental delay
- Intellectual disability
- Epilepsy
- Genetic disorders
- Autosomal recessive inheritance
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