What CEREBRO-OCULO-FACIO-SKELETAL SYNDROME means: Cerebro-Oculo-Facio-Skeletal Syndrome - (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and mental retardation, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth.
- Definition Central Pontine Myelinolysis:
- Dictionary Myelinolysis - (CPM) is a neurological disorder that most frequently occurs after too rapid medical correction of sodium deficiency (hyponatremia). The rapid rise in sodium concentration is cerebro-oculo-facio-skeletal syndrome definition.
- Definition Corticobasal Degeneration:
- Dictionary Degeneration - is a progressive neurological disorder characterized by nerve cell loss and atrophy (shrinkage) of multiple areas of the brain including the cerebral cortex and the basal ganglia cerebro-oculo-facio-skeletal syndrome explain.
- Definition Cerebral Atrophy:
- Dictionary is a common feature of many of the diseases that affect the brain. Atrophy of any tissue means loss of cells. In brain tissue, atrophy describes a loss of neurons and the connections between them cerebro-oculo-facio-skeletal syndrome what is.
- Definition Coffin Lowry Syndrome:
- Dictionary Syndrome - is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, mental retardation, short stature, and hypotonia. Characteristic facial features may cerebro-oculo-facio-skeletal syndrome meaning.
