Deafness-dwarfism-retinal atrophy or Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
1. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time.
2. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases, even a small amount of sun exposure can cause a sunburn or blistering of the skin.
3. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans.
4. People with Cockayne syndrome have a serious reaction to an antibiotic medication called metronidazole.
5. If affected individuals take this medication, it can cause life-threatening liver failure
Treatment of is deafness-dwarfism-retinal atrophy symptomatic and supportive.
6. A supportive team approach can benefit children with CS and may include special education, physical therapy, and other medical, social, and/or vocational services.
7. Genetic counseling is recommended for family members.
Small head size (microcephaly),A failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature,Delayed development
Hearing loss,Vision loss,Severe tooth decay,Bone abnormalities,Hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans
Symptomatic and supportive therapy like hearing aids,Speech therapy