Sack-Barabas syndrome

Sack-Barabas Syndrome Sack-Barabas syndrome, also known as Ehlers-Danlos syndrome type IV, is a rare genetic disorder characterized by defects in the synthesis of collagen, a protein that provides strength and elasticity to connective tissues. This condition is part of a group of disorders known as Ehlers-Danlos syndromes, which affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues.

Clinical Features

Individuals with Sack-Barabas syndrome often present with a variety of symptoms, including:

• Thin, translucent skin: The skin is often described as "paper-thin" and is particularly fragile, leading to easy bruising and tearing.
• Vascular fragility: One of the most serious complications is the increased risk of arterial rupture, which can lead to life-threatening bleeding.
• Characteristic facial features: These may include a thin nose, thin lips, and prominent eyes.
• Joint hypermobility: Although less pronounced than in other types of Ehlers-Danlos syndrome, some joint hypermobility may be present.

Genetics

Sack-Barabas syndrome is caused by mutations in the COL3A1 gene, which encodes the pro-alpha1 chain of type III collagen. This gene is located on chromosome 2q31. Mutations in COL3A1 lead to the production of abnormal collagen, which weakens connective tissues throughout the body.

Diagnosis

Diagnosis of Sack-Barabas syndrome is based on clinical evaluation, family history, and genetic testing. The presence of characteristic symptoms, along with a confirmed mutation in the COL3A1 gene, can confirm the diagnosis.

Management

There is currently no cure for Sack-Barabas syndrome, and management focuses on preventing complications and improving quality of life. Key management strategies include:

• Regular monitoring: Regular cardiovascular evaluations to monitor for vascular complications.
• Lifestyle modifications: Avoiding contact sports and activities that increase the risk of injury.
• Surgical interventions: Careful consideration of surgical procedures due to increased risk of complications.

Prognosis

The prognosis for individuals with Sack-Barabas syndrome varies depending on the severity of the condition and the presence of complications. Early diagnosis and careful management can improve outcomes and quality of life.

See Also

• Ehlers-Danlos syndromes
• Connective tissue disorders
• Genetic disorders

,

 The Ehlers-Danlos syndromes, 
 Rheumatology, 
 1998, 
 Vol. 37(Issue: 6), 
 pp. 485 490, 
 DOI: 10.1093/rheumatology/37.6.485,

,

 Ehlers-Danlos Syndrome, 
  
 Wiley-Liss, 
 2002, 
  
  
  
  
  
  
 Pages: 431 523,

NIH genetic and rare disease info

• NIH info on Sack-Barabas syndrome

Sack-Barabas syndrome is a rare disease.