BGDD

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, delayed development, neurologic abnormalities, and intellectual disability. There are four types of CS having specific characteristics and age of onset. Children with the classical form (CS type I) have growth delay and developmental delays in the first two years of life. Children with CS type II have growth failure noticed at birth and sometimes congenital cataracts and a lack of neurologic development. CS type III presents later in childhood and is generally a milder form of the disease. Children with COFS have severe developmental abnormalities that begin during fetal development and can include stiff joints (contractures) at birth and eyes that don’t fully develop (microphthalmia).

1. Development delay
2. Microcephaly
3. failure to gain weight
4. failure to thrive
5. Very short stature

(1) Medical history collection (2) Physical examination (3) CT scan of the brain (4) EEG (5) Biochemical tests (6) X-ray (7) Genetic testing

None

Physical therapy - Helps to prevent contractures and maintain ambulation. Feeding therapy - Including consideration of gastrostomy tube for failure to thrive. Management of hearing loss - Ie, hearing aids or other devices, if necessary.