Sack–Barabas syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Sack–Barabas syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = [[Autosomal dominant]] pattern of inheritance | |||
| synonyms = [[Ehlers–Danlos syndrome]] type IV, [[vascular Ehlers–Danlos syndrome]] | |||
| pronounce = | |||
| specialty = [[Medical genetics]], [[Cardiology]] | |||
| symptoms = [[Thin skin]], [[arterial rupture]], [[intestinal perforation]], [[organ rupture]] | |||
| complications = [[Aneurysm]], [[pneumothorax]], [[uterine rupture]] | |||
| onset = [[Childhood]] or [[early adulthood]] | |||
| duration = [[Lifelong]] | |||
| types = | |||
| causes = [[Genetic mutation]] in the [[COL3A1]] gene | |||
| risks = [[Family history]] | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = Other types of [[Ehlers–Danlos syndrome]], [[Marfan syndrome]], [[Loeys-Dietz syndrome]] | |||
| prevention = | |||
| treatment = [[Monitoring]], [[surgery]] for complications | |||
| medication = [[Beta blockers]], [[antihypertensives]] | |||
| prognosis = Variable, risk of [[life-threatening]] complications | |||
| frequency = 1 in 50,000 to 1 in 200,000 | |||
| deaths = | |||
}} | |||
'''Sack–Barabas syndrome''' is a rare [[medical condition]] characterized by [[alopecia]], [[mental retardation]], and [[hypogonadism]]. It was first described by Sack and Barabas in 1966. | '''Sack–Barabas syndrome''' is a rare [[medical condition]] characterized by [[alopecia]], [[mental retardation]], and [[hypogonadism]]. It was first described by Sack and Barabas in 1966. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The syndrome is characterized by the following symptoms and signs: | The syndrome is characterized by the following symptoms and signs: | ||
* [[Alopecia]]: This is a condition that causes hair to fall out in small patches, which can be unnoticeable. These patches may connect, however, and then become noticeable. The condition develops when the immune system attacks the hair follicles, resulting in hair loss. | * [[Alopecia]]: This is a condition that causes hair to fall out in small patches, which can be unnoticeable. These patches may connect, however, and then become noticeable. The condition develops when the immune system attacks the hair follicles, resulting in hair loss. | ||
* [[Mental retardation]]: This is a term used when a person has certain limitations in mental functioning and in skills such as communicating, taking care of him or herself, and social skills. These limitations will cause a child to learn and develop more slowly than a typical child. | * [[Mental retardation]]: This is a term used when a person has certain limitations in mental functioning and in skills such as communicating, taking care of him or herself, and social skills. These limitations will cause a child to learn and develop more slowly than a typical child. | ||
* [[Hypogonadism]]: This condition occurs when the body's sex glands produce little or no hormones. In men, these glands (gonads) are the testes; in women, they are the ovaries. | * [[Hypogonadism]]: This condition occurs when the body's sex glands produce little or no hormones. In men, these glands (gonads) are the testes; in women, they are the ovaries. | ||
== Causes == | == Causes == | ||
The exact cause of Sack–Barabas syndrome is currently unknown. It is thought to be a genetic disorder, but the specific genes involved have not been identified. | The exact cause of Sack–Barabas syndrome is currently unknown. It is thought to be a genetic disorder, but the specific genes involved have not been identified. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Sack–Barabas syndrome is based on the presence of the characteristic symptoms and signs. Genetic testing may be helpful in confirming the diagnosis, but is not always necessary. | Diagnosis of Sack–Barabas syndrome is based on the presence of the characteristic symptoms and signs. Genetic testing may be helpful in confirming the diagnosis, but is not always necessary. | ||
== Treatment == | == Treatment == | ||
There is no cure for Sack–Barabas syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the syndrome. This may include medications to manage symptoms, physical therapy to improve mobility, and educational support for individuals with mental retardation. | There is no cure for Sack–Barabas syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the syndrome. This may include medications to manage symptoms, physical therapy to improve mobility, and educational support for individuals with mental retardation. | ||
== See also == | == See also == | ||
* [[List of rare diseases]] | * [[List of rare diseases]] | ||
* [[List of genetic disorders]] | * [[List of genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 22:59, 6 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
| Sack–Barabas syndrome | |
|---|---|
| |
| Synonyms | Ehlers–Danlos syndrome type IV, vascular Ehlers–Danlos syndrome |
| Pronounce | |
| Specialty | Medical genetics, Cardiology |
| Symptoms | Thin skin, arterial rupture, intestinal perforation, organ rupture |
| Complications | Aneurysm, pneumothorax, uterine rupture |
| Onset | Childhood or early adulthood |
| Duration | Lifelong |
| Types | |
| Causes | Genetic mutation in the COL3A1 gene |
| Risks | Family history |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Other types of Ehlers–Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome |
| Prevention | |
| Treatment | Monitoring, surgery for complications |
| Medication | Beta blockers, antihypertensives |
| Prognosis | Variable, risk of life-threatening complications |
| Frequency | 1 in 50,000 to 1 in 200,000 |
| Deaths | |
Sack–Barabas syndrome is a rare medical condition characterized by alopecia, mental retardation, and hypogonadism. It was first described by Sack and Barabas in 1966.
Symptoms and Signs[edit]
The syndrome is characterized by the following symptoms and signs:
- Alopecia: This is a condition that causes hair to fall out in small patches, which can be unnoticeable. These patches may connect, however, and then become noticeable. The condition develops when the immune system attacks the hair follicles, resulting in hair loss.
- Mental retardation: This is a term used when a person has certain limitations in mental functioning and in skills such as communicating, taking care of him or herself, and social skills. These limitations will cause a child to learn and develop more slowly than a typical child.
- Hypogonadism: This condition occurs when the body's sex glands produce little or no hormones. In men, these glands (gonads) are the testes; in women, they are the ovaries.
Causes[edit]
The exact cause of Sack–Barabas syndrome is currently unknown. It is thought to be a genetic disorder, but the specific genes involved have not been identified.
Diagnosis[edit]
Diagnosis of Sack–Barabas syndrome is based on the presence of the characteristic symptoms and signs. Genetic testing may be helpful in confirming the diagnosis, but is not always necessary.
Treatment[edit]
There is no cure for Sack–Barabas syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the syndrome. This may include medications to manage symptoms, physical therapy to improve mobility, and educational support for individuals with mental retardation.
