Buttien-Fryns syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Buttien-Fryns syndrome | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| image_size = 200px | |||
| alt = | |||
| caption = Buttien-Fryns syndrome is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Intellectual disability]], [[craniofacial dysmorphism]], [[digital anomalies]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Clinical diagnosis]], [[genetic testing]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Supportive care]] | |||
| medication = | |||
| prognosis = | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
{{Short description|A rare genetic disorder}} | {{Short description|A rare genetic disorder}} | ||
'''Buttien-Fryns syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[craniofacial]], [[skeletal]], and [[neurological]] abnormalities. It is inherited in an [[autosomal recessive]] pattern, meaning that two copies of the mutated gene, one from each parent, are required for an individual to be affected by the syndrome. | '''Buttien-Fryns syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[craniofacial]], [[skeletal]], and [[neurological]] abnormalities. It is inherited in an [[autosomal recessive]] pattern, meaning that two copies of the mutated gene, one from each parent, are required for an individual to be affected by the syndrome. | ||
==Presentation== | ==Presentation== | ||
Individuals with Buttien-Fryns syndrome typically present with a range of symptoms that can vary in severity. Common features include distinctive facial features such as a broad forehead, hypertelorism (widely spaced eyes), and a flat nasal bridge. [[Microcephaly]], or a smaller than average head size, is also frequently observed. | Individuals with Buttien-Fryns syndrome typically present with a range of symptoms that can vary in severity. Common features include distinctive facial features such as a broad forehead, hypertelorism (widely spaced eyes), and a flat nasal bridge. [[Microcephaly]], or a smaller than average head size, is also frequently observed. | ||
Neurologically, affected individuals may experience developmental delays and intellectual disability. Seizures are also a common feature of the syndrome. Skeletal abnormalities can include short stature and various limb malformations. | Neurologically, affected individuals may experience developmental delays and intellectual disability. Seizures are also a common feature of the syndrome. Skeletal abnormalities can include short stature and various limb malformations. | ||
==Genetics== | ==Genetics== | ||
Buttien-Fryns syndrome is caused by mutations in a specific gene, although the exact gene responsible has not been definitively identified. The syndrome follows an autosomal recessive inheritance pattern, which means that both parents of an affected individual are typically carriers of one copy of the mutated gene but do not show symptoms themselves. | Buttien-Fryns syndrome is caused by mutations in a specific gene, although the exact gene responsible has not been definitively identified. The syndrome follows an autosomal recessive inheritance pattern, which means that both parents of an affected individual are typically carriers of one copy of the mutated gene but do not show symptoms themselves. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Buttien-Fryns syndrome is based on clinical evaluation and the identification of characteristic features. Genetic testing can be used to confirm the diagnosis by identifying mutations in the gene associated with the syndrome. Prenatal diagnosis may be possible if the genetic mutation is known in the family. | Diagnosis of Buttien-Fryns syndrome is based on clinical evaluation and the identification of characteristic features. Genetic testing can be used to confirm the diagnosis by identifying mutations in the gene associated with the syndrome. Prenatal diagnosis may be possible if the genetic mutation is known in the family. | ||
==Management== | ==Management== | ||
There is no cure for Buttien-Fryns syndrome, and treatment is primarily supportive and symptomatic. Management may involve a multidisciplinary team to address the various medical, developmental, and educational needs of the affected individual. This can include physical therapy, occupational therapy, and special education services. | There is no cure for Buttien-Fryns syndrome, and treatment is primarily supportive and symptomatic. Management may involve a multidisciplinary team to address the various medical, developmental, and educational needs of the affected individual. This can include physical therapy, occupational therapy, and special education services. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Buttien-Fryns syndrome varies depending on the severity of symptoms and the presence of complications. Early intervention and supportive care can improve the quality of life for affected individuals. | The prognosis for individuals with Buttien-Fryns syndrome varies depending on the severity of symptoms and the presence of complications. Early intervention and supportive care can improve the quality of life for affected individuals. | ||
==See also== | |||
== | |||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Autosomal recessive disorder]] | * [[Autosomal recessive disorder]] | ||
* [[Developmental delay]] | * [[Developmental delay]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 19:49, 4 April 2025
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Obesity, Sleep & Internal medicine
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| Buttien-Fryns syndrome | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Intellectual disability, craniofacial dysmorphism, digital anomalies |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical diagnosis, genetic testing |
| Differential diagnosis | |
| Prevention | |
| Treatment | Supportive care |
| Medication | |
| Prognosis | |
| Frequency | Rare |
| Deaths | |
A rare genetic disorder
Buttien-Fryns syndrome is a rare genetic disorder characterized by a combination of craniofacial, skeletal, and neurological abnormalities. It is inherited in an autosomal recessive pattern, meaning that two copies of the mutated gene, one from each parent, are required for an individual to be affected by the syndrome.
Presentation[edit]
Individuals with Buttien-Fryns syndrome typically present with a range of symptoms that can vary in severity. Common features include distinctive facial features such as a broad forehead, hypertelorism (widely spaced eyes), and a flat nasal bridge. Microcephaly, or a smaller than average head size, is also frequently observed. Neurologically, affected individuals may experience developmental delays and intellectual disability. Seizures are also a common feature of the syndrome. Skeletal abnormalities can include short stature and various limb malformations.
Genetics[edit]
Buttien-Fryns syndrome is caused by mutations in a specific gene, although the exact gene responsible has not been definitively identified. The syndrome follows an autosomal recessive inheritance pattern, which means that both parents of an affected individual are typically carriers of one copy of the mutated gene but do not show symptoms themselves.
Diagnosis[edit]
Diagnosis of Buttien-Fryns syndrome is based on clinical evaluation and the identification of characteristic features. Genetic testing can be used to confirm the diagnosis by identifying mutations in the gene associated with the syndrome. Prenatal diagnosis may be possible if the genetic mutation is known in the family.
Management[edit]
There is no cure for Buttien-Fryns syndrome, and treatment is primarily supportive and symptomatic. Management may involve a multidisciplinary team to address the various medical, developmental, and educational needs of the affected individual. This can include physical therapy, occupational therapy, and special education services.
Prognosis[edit]
The prognosis for individuals with Buttien-Fryns syndrome varies depending on the severity of symptoms and the presence of complications. Early intervention and supportive care can improve the quality of life for affected individuals.
