Cerebro-oculo-facio skeletal syndrome refers to a degenerative disorder of the brain as well as the spinal cord that starts just before one’s birth. The disorder is characterised by failure of growth at birth and almost negligible neurological development, fixed bending of the spine as well as joints and structural abnormalities of the eye.
It is now considered to be a part of the spectrum of disorders within Cockayne syndrome.
First described in the year 1974, the syndrome is characterised by unusual craniofacial features that may include:
• Microcephaly- an unusually, extremely small head
• Unusually prominent nose
• Clouding of the eyes’ lens
• Abnormally small eyes
• Horizontally narrow opening between both the eyelids
• Abnormally large ears
• Overlapping upper lip
• Abnormally long groove of the upper lip
• Micrognathia-unusually small jaw
• In most adults, there is a fixed bending of the knees and elbows, called flexion contractures
• Hunched back, called kyphosis
• Bending of one or more fingers, called camptodactyly
• Infants tend to have a rocker bottom feet that groove over the length of the soles of their feet
• Deformity of the hip, called coxa valga
• Porous bones, called osteoporosis
• Wide-set nipples
• Inability to thrive
• Feeding difficulties such as the inability to suckle
• Formation of one line in the palm of the patient’s hand that is formed by fusion of the common two lines, called simian crease
• Children tend to be at an increased risk of respiratory infection
• Patients show progressive deterioration and rarely survive after the age of seven years.
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