What COFFIN LOWRY SYNDROME means: Coffin Lowry 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 include an underdeveloped upper jaw bone (maxillary hypoplasia), a broad nose, protruding nostrils (nares), an abnormally prominent brow, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis), unusual prominence of the breastbone (pectus carinatum), and short, hyper-extensible, tapered fingers. Additional abnormalities may also be present. Other features may include feeding and respiratory problems, developmental delay, mental retardation, hearing impairment, awkward gait, flat feet, and heart and kidney involvement.
- Definition Cerebellar Hypoplasia:
- Dictionary Hypoplasia - is a neurological condition in which the cerebellum is smaller than usual or not completely developed. Cerebellar hypoplasia is a feature of a number of congenital (present at birth coffin lowry syndrome definition.
- Definition Congenital Facial Diplegia:
- Dictionary Diplegia - Mobius syndrome is a rare birth defect caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movements and facial expression. The first symptom coffin lowry syndrome explain.
- Definition Cerebral Aneurysm:
- Dictionary also known as an intracranial or intracerebral aneurysm) is a weak or thin spot on a blood vessel in the brain that balloons out and fills with blood. The bulging aneurysm can put pressure on a coffin lowry syndrome what is.
- Definition Cavernomas:
- Dictionary cerebral cavernous malformation (CCM) is a collection of small blood vessels (capillaries) in the central nervous system (CNS) that is enlarged and irregular in structure and takes the shape of a coffin lowry syndrome meaning.