CAMFAK syndrome

A rare genetic disorder

Overview

CAMFAK syndrome is a rare genetic disorder characterized by a combination of cataracts, microcephaly, failure to thrive, and kyphoscoliosis. It is an autosomal recessive condition, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder.

Genetic Basis

Diagram of autosomal recessive inheritance.

CAMFAK syndrome is caused by mutations in a specific gene, although the exact gene responsible has not been definitively identified. The inheritance pattern is autosomal recessive, which is depicted in the diagram to the right. In this pattern, both parents of an affected individual are typically carriers of one copy of the mutated gene but do not show symptoms of the disorder themselves.

Clinical Features

The clinical presentation of CAMFAK syndrome includes several key features:

• Cataracts: Clouding of the lens of the eye, leading to impaired vision.
• Microcephaly: A condition where the head circumference is significantly smaller than average for the person's age and sex.
• Failure to thrive: Poor weight gain and growth in infants and children.
• Kyphoscoliosis: A combination of kyphosis (outward curvature of the spine) and scoliosis (lateral curvature of the spine).

Diagnosis

Diagnosis of CAMFAK syndrome is based on clinical evaluation, family history, and genetic testing. The presence of the characteristic features, along with a pattern of autosomal recessive inheritance, can lead to a suspicion of the syndrome. Genetic testing can confirm the diagnosis by identifying mutations in the gene associated with the disorder.

Management

There is currently no cure for CAMFAK syndrome, and treatment is primarily supportive and symptomatic. Management may include:

• Surgical intervention for cataracts to improve vision.
• Physical therapy and orthopedic interventions for kyphoscoliosis.
• Nutritional support and monitoring to address failure to thrive.

Prognosis

The prognosis for individuals with CAMFAK syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies employed. Early intervention and supportive care can improve quality of life and outcomes for affected individuals.

Related pages

• Genetic disorder
• Autosomal recessive disorder
• Cataract
• Microcephaly
• Kyphoscoliosis