Cerebrooculofacioskeletal syndrome type 2, (COFS 2), is a rare genetic condition that begins before birth and usually causes death within the first year of life. Individuals often have a small head, with small eyes and a small jaw. Individuals can have cataracts (clouding of the eyes) and pigmentary retinopathy (vision loss) and hearing loss. Babies show developmental delay both physically and mentally. Symptoms also include stiff joints, poor muscle strength of the head and neck, and overly stiff muscles of the arms and legs. Individuals also have a skin condition that when exposed to sunlight and even some artificial light can cause irritation and blistering.
COFS 2 has been linked to a change (mutation) in one of four genes: ERCC1, ERCC2, ERCC5, and ERCC6 genes. However, not every case of COFS 2 has a mutation in one of the four genes.
COFS 2 is inherited (passed from parent to child) in an autosomal recessive manner. Autosomal recessive means that an individual must have two mutations in order to have the condition. A person with only one mutation is called a carrier because they “carry” a mutation but do not have the condition. If both parents are carriers of a mutation, their children have a one in four chance (25%) of having the condition and a 50% chance of being a carrier.
The diagnosis of COFS 2 can be made using findings from prenatal ultrasound, CVS, and/or amniocentesis. After birth, diagnosis is often made based on physical features, genetic testing, and other laboratory tests.
Treatment for COFS 2 involves supportive care and is based on the symptoms present. Individuals with this condition often require a feeding tube to obtain adequate nutrition. If your child has been diagnosed with COFS 2, talk to your doctor about current treatment options.
Description Last Updated: Apr 06, 2018