Sack–Barabas syndrome

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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

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

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 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

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

• List of rare diseases
• List of genetic disorders