Sack–Barabas syndrome
(Redirected from Ehlers-Danlos syndrome, vascular type)
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Sack–Barabas syndrome | |
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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 | edit source]
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 | edit source]
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 | edit source]
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 | edit source]
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[edit | edit source]
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Contributors: Prab R. Tumpati, MD