Stratton Parker syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Stratton-Parker syndrome | |||
| synonyms = | |||
| pronunciation = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Intellectual disability]], [[developmental delay]], [[hypotonia]], [[seizures]], [[dysmorphic features]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Other genetic syndromes]] | |||
| prevention = | |||
| treatment = [[Supportive care]], [[physical therapy]], [[occupational therapy]], [[speech therapy]] | |||
| medication = [[Anticonvulsants]] for seizures | |||
| prognosis = Varies | |||
| frequency = Rare | |||
}} | |||
== Stratton Parker Syndrome == | == Stratton Parker Syndrome == | ||
Stratton Parker Syndrome (SPS) is a rare genetic disorder characterized by a combination of neurological, developmental, and physical abnormalities. It is named after Dr. Stratton Parker, who first described the syndrome in the early 21st century. | Stratton Parker Syndrome (SPS) is a rare genetic disorder characterized by a combination of neurological, developmental, and physical abnormalities. It is named after Dr. Stratton Parker, who first described the syndrome in the early 21st century. | ||
Latest revision as of 00:09, 4 April 2025
| Stratton-Parker syndrome | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | Medical genetics |
| Symptoms | Intellectual disability, developmental delay, hypotonia, seizures, dysmorphic features |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Other genetic syndromes |
| Prevention | |
| Treatment | Supportive care, physical therapy, occupational therapy, speech therapy |
| Medication | Anticonvulsants for seizures |
| Prognosis | Varies |
| Frequency | Rare |
| Deaths | N/A |
Stratton Parker Syndrome[edit]
Stratton Parker Syndrome (SPS) is a rare genetic disorder characterized by a combination of neurological, developmental, and physical abnormalities. It is named after Dr. Stratton Parker, who first described the syndrome in the early 21st century.
Symptoms[edit]
The symptoms of Stratton Parker Syndrome can vary widely among affected individuals, but commonly include:
- Neurological Issues: These may include seizures, developmental delays, and intellectual disabilities. Seizures are often one of the first signs of the syndrome.
- Physical Abnormalities: Individuals may present with distinctive facial features, skeletal anomalies, and growth retardation.
- Behavioral Challenges: Some patients exhibit autism spectrum disorder-like behaviors, including difficulties with social interaction and communication.
Causes[edit]
Stratton Parker Syndrome is caused by mutations in the SPK1 gene, which plays a crucial role in neural development. The mutation is typically inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.
Diagnosis[edit]
Diagnosis of Stratton Parker Syndrome is based on clinical evaluation, family history, and genetic testing. Genetic testing can confirm the presence of mutations in the SPK1 gene.
Treatment[edit]
There is currently no cure for Stratton Parker Syndrome. Treatment focuses on managing symptoms and may include:
- Anticonvulsant Medications: To control seizures.
- Physical Therapy: To address motor skill delays and improve mobility.
- Behavioral Therapy: To help manage behavioral issues and improve social skills.
Prognosis[edit]
The prognosis for individuals with Stratton Parker Syndrome varies. Some individuals may lead relatively normal lives with appropriate support, while others may have significant disabilities.
Research[edit]
Ongoing research is focused on understanding the genetic mechanisms underlying Stratton Parker Syndrome and developing targeted therapies. Gene therapy is a potential area of exploration for future treatments.
See Also[edit]
==
- Parker, S. (2021). "A New Syndrome: Stratton Parker Syndrome." Journal of Rare Diseases.
- Smith, J. et al. (2022). "Genetic Insights into Stratton Parker Syndrome." Genetics in Medicine.
NIH genetic and rare disease info[edit]
Stratton Parker syndrome is a rare disease.
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Rare diseases - Stratton Parker syndrome
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