Topic > Rare Birth Defects: Moebius Syndrome

Moebius Syndrome is a rare birth defect caused by the absence or underdevelopment of the 6th and 7th cranial nerves. These cranial nerves are primarily responsible for eye movements and facial expressions. Moebius syndrome can also affect other cranial nerves, such as the 3rd, 5th, 8th, 9th, 11th, and 12th. An early warning sign of this condition is usually present at birth (for example, inability to suck). Additional signs or symptoms may include: problems feeding, swallowing, and choking; crossed eyes; absence of facial expressions; inability to smile; high palate or cleft; and speech difficulties. Malformations of the tongue, jaw and limbs may also be present. Visual symptoms become more dominant as children age (e.g., absence of smiles and facial expressions). 30% - 40% of children with Moebius syndrome have some degree of autism. There is no cure for Moebius syndrome, nor is there a specific treatment route. Treatment options such as surgery, physical and speech therapy, reconstructive plastic surgery, and nerve and muscle transfers are strictly supportive and primarily dependent on symptoms. Say no to plagiarism. Get a tailor-made essay on "Why Violent Video Games Shouldn't Be Banned"? Get an Original Essay Research on Moebius syndrome has increased significantly over the past 10 years. The Moebius Syndrome Foundation collaborated with the National Institutes of Health (NIH), the NIH Office of Rare Diseases (ORD), the National Institute of Neurological Disorders and Stroke (NINDS), the National Dental and Craniofacial Research (NIDCR), and numerous researchers from 9 countries around the world to broaden awareness and clinical research on this disorder. According to the National Institute of Neurological Disorders and Stroke (NINDS), there are a total of 4 studies on Moebius syndrome: Oral language disorders in Mobius syndrome - University of Fortaleza (completed) Positive exposure: a photographic intervention and video for individuals with craniofacial conditions Differences - National Human Genome Research (Completed) Moebius Syndrome and Congenital Facial Weakness Disorders Study - National Institutes of Health Clinical Center (Recruiting) Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDD) and their associated anomalies - Boston Children's Hospital ( recruiting) Sturge-Weber syndrome is a neurological disorder. It is determined at birth by the port-wine colored birthmark on one side of the face, particularly on the forehead and upper eyelid. This birthmark varies in color from light pink to deep purple. It is caused by an excessive amount of capillaries located under the surface of the face, around the trigeminal nerve. Additional indicators of Sturge-Weber syndrome are abnormal blood vessels on the surface of the brain, loss of nerve cells, and calcification of the underlying tissue. in the cerebral cortex of the brain. These signs will occur on the same side of the brain as the birthmark. Neurological symptoms, such as seizures, typically occur on the opposite side of the body where the birthmark is located. These usually begin in childhood and intensify with age. Other symptoms include occasional or permanent muscle weakness on the same side, developmental delays and cognitive impairment, glaucoma (present at birth or later in life), buphthalmos (enlarged eyeball protruding from the socket), and recurrent migraines.