Arc syndrome
ARC Syndrome (Arthrogryposis, Renal dysfunction and Cholestasis) is a rare genetic disorder that primarily affects newborns. It is characterized by arthrogryposis (joint contractures), renal tubular dysfunction, and cholestasis, a condition that impairs the release of a digestive fluid called bile from liver cells.
Symptoms[edit | edit source]
The symptoms of ARC syndrome are present at birth and may vary among affected individuals. The most common symptoms include arthrogryposis, which is characterized by multiple joint contractures and can lead to muscle weakness or stiffness. Renal tubular dysfunction, which can lead to electrolyte imbalances and abnormal urine concentration, is also a common symptom. Cholestasis, which can lead to jaundice, is another common symptom. Other symptoms may include failure to thrive, severe global developmental delay, and distinctive facial features.
Causes[edit | edit source]
ARC syndrome is caused by mutations in the VPS33B or VIPAR gene. These genes are involved in the trafficking of proteins and other materials within cells. Mutations in these genes disrupt the normal functioning of cells, leading to the various symptoms associated with ARC syndrome.
Diagnosis[edit | edit source]
Diagnosis of ARC syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include blood tests, urine tests, imaging studies, and molecular genetic testing.
Treatment[edit | edit source]
There is currently no cure for ARC syndrome. Treatment is symptomatic and supportive. Management of the condition may require the coordinated efforts of a team of specialists.
Prognosis[edit | edit source]
The prognosis for individuals with ARC syndrome is poor. Most affected individuals do not survive past infancy due to severe renal disease and other complications.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Arc syndrome is a rare disease.
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