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 Chronic Inflammatory Demyelinating Polyneuropathy (CIDP):
- Dictionary Inflammatory Demyelinating Polyneuropathy (CIDP) - is a neurological disorder characterized by progressive weakness and impaired sensory function in the legs and arms. The disorder, which is cerebro-oculo-facio-skeletal syndrome.
- Definition Congenital Myopathy:
- Dictionary is a term for any muscle disorder present at birth. By this definition the congenital myopathies could include hundreds of distinct neuromuscular syndromes and disorders. In general, congenital cerebro-oculo-facio-skeletal syndrome.
- Definition Canavan Disease:
- Dictionary one of the most common cerebral degenerative diseases of infancy, is a gene-linked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue riddled with cerebro-oculo-facio-skeletal syndrome.
- Definition Cavernous Angioma:
- Dictionary also known as cerebral cavernous malformation (CCM), cavernous haemangioma, and cavernoma, is a vascular disorder of the central nervous system that may appear either sporadically or exhibit cerebro-oculo-facio-skeletal syndrome.