Lujan–Fryns syndrome: Difference between revisions
From WikiMD's Wellness Encyclopedia
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[[File:Lujan.jpg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Lujan–Fryns syndrome | |||
| image = [[File:Lujan.jpg]] | |||
| caption = | |||
| synonyms = X-linked mental retardation with marfanoid habitus | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Intellectual disability]], [[marfanoid habitus]], [[craniofacial dysmorphism]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Marfan syndrome]], [[Homocystinuria]], [[Sotos syndrome]] | |||
| prevention = | |||
| treatment = [[Supportive care]], [[symptomatic treatment]] | |||
| medication = | |||
| prognosis = | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Lujan–Fryns syndrome''' is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and various physical abnormalities. It is an X-linked condition, meaning it primarily affects males, although females can be carriers and may exhibit milder symptoms. | |||
== Signs and Symptoms == | == Signs and Symptoms == | ||
Individuals with Lujan–Fryns syndrome typically present with a range of symptoms, including: | Individuals with Lujan–Fryns syndrome typically present with a range of symptoms, including: | ||
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* [[Cardiovascular abnormalities]], such as [[aortic dilatation]] | * [[Cardiovascular abnormalities]], such as [[aortic dilatation]] | ||
* [[Musculoskeletal abnormalities]], including joint hypermobility and scoliosis | * [[Musculoskeletal abnormalities]], including joint hypermobility and scoliosis | ||
== Genetics == | == Genetics == | ||
Lujan–Fryns syndrome is caused by mutations in the [[MED12]] gene, which is located on the X chromosome. The MED12 gene plays a crucial role in the regulation of gene expression and is involved in various developmental processes. Mutations in this gene disrupt normal development, leading to the characteristic features of the syndrome. | Lujan–Fryns syndrome is caused by mutations in the [[MED12]] gene, which is located on the X chromosome. The MED12 gene plays a crucial role in the regulation of gene expression and is involved in various developmental processes. Mutations in this gene disrupt normal development, leading to the characteristic features of the syndrome. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Lujan–Fryns syndrome is based on clinical evaluation, identification of characteristic features, and genetic testing to confirm mutations in the MED12 gene. Prenatal diagnosis may be possible if there is a known family history of the condition. | Diagnosis of Lujan–Fryns syndrome is based on clinical evaluation, identification of characteristic features, and genetic testing to confirm mutations in the MED12 gene. Prenatal diagnosis may be possible if there is a known family history of the condition. | ||
== Management == | == Management == | ||
There is no cure for Lujan–Fryns syndrome, and treatment is primarily supportive and symptomatic. Management may include: | There is no cure for Lujan–Fryns syndrome, and treatment is primarily supportive and symptomatic. Management may include: | ||
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* Regular monitoring and management of cardiovascular and musculoskeletal abnormalities | * Regular monitoring and management of cardiovascular and musculoskeletal abnormalities | ||
* Genetic counseling for affected families | * Genetic counseling for affected families | ||
== History == | == History == | ||
Lujan–Fryns syndrome was first described in 1984 by Lujan and Fryns, who identified a group of patients with similar clinical features. Since then, further research has expanded the understanding of the syndrome and its genetic basis. | Lujan–Fryns syndrome was first described in 1984 by Lujan and Fryns, who identified a group of patients with similar clinical features. Since then, further research has expanded the understanding of the syndrome and its genetic basis. | ||
== See Also == | == See Also == | ||
* [[X-linked intellectual disability]] | * [[X-linked intellectual disability]] | ||
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* [[Autism spectrum disorder]] | * [[Autism spectrum disorder]] | ||
* [[Genetic counseling]] | * [[Genetic counseling]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{No external links}} | {{No external links}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
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[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:X-linked recessive disorders]] | [[Category:X-linked recessive disorders]] | ||
{{Genetics-stub}} | {{Genetics-stub}} | ||
Latest revision as of 03:46, 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
| Lujan–Fryns syndrome | |
|---|---|
| |
| Synonyms | X-linked mental retardation with marfanoid habitus |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Intellectual disability, marfanoid habitus, craniofacial dysmorphism |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Marfan syndrome, Homocystinuria, Sotos syndrome |
| Prevention | |
| Treatment | Supportive care, symptomatic treatment |
| Medication | |
| Prognosis | |
| Frequency | Rare |
| Deaths | |
Lujan–Fryns syndrome is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and various physical abnormalities. It is an X-linked condition, meaning it primarily affects males, although females can be carriers and may exhibit milder symptoms.
Signs and Symptoms[edit]
Individuals with Lujan–Fryns syndrome typically present with a range of symptoms, including:
- Intellectual disability
- Behavioral disorders, such as autism spectrum disorder
- Distinctive facial features, including a long face, high nasal bridge, and a small jaw
- Marfanoid habitus, which includes tall stature, long limbs, and arachnodactyly (long, slender fingers)
- Cardiovascular abnormalities, such as aortic dilatation
- Musculoskeletal abnormalities, including joint hypermobility and scoliosis
Genetics[edit]
Lujan–Fryns syndrome is caused by mutations in the MED12 gene, which is located on the X chromosome. The MED12 gene plays a crucial role in the regulation of gene expression and is involved in various developmental processes. Mutations in this gene disrupt normal development, leading to the characteristic features of the syndrome.
Diagnosis[edit]
Diagnosis of Lujan–Fryns syndrome is based on clinical evaluation, identification of characteristic features, and genetic testing to confirm mutations in the MED12 gene. Prenatal diagnosis may be possible if there is a known family history of the condition.
Management[edit]
There is no cure for Lujan–Fryns syndrome, and treatment is primarily supportive and symptomatic. Management may include:
- Special education programs and therapies to address intellectual disability and behavioral issues
- Regular monitoring and management of cardiovascular and musculoskeletal abnormalities
- Genetic counseling for affected families
History[edit]
Lujan–Fryns syndrome was first described in 1984 by Lujan and Fryns, who identified a group of patients with similar clinical features. Since then, further research has expanded the understanding of the syndrome and its genetic basis.
See Also[edit]
References[edit]
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External Links[edit]
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