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Rare Birth Defects: Moebius Syndrome

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Moebius syndrome is a rare birth defect which is 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 (e.g. inability to suck). Additional signs or symptoms might consist of: feeding, swallowing, and choking problems; crossed eyes; absence of facial expressions; inability to smile; high or cleft palate; and speech difficulties. Tongue, jaw, and limb malformations may also be present. Visual symptoms become more dominant as children age (e.g. absence of smiles and facial expressions). 30% – 40% of children who have Moebius syndrome exhibit some degree of autism. There is no cure for Moebius syndrome, nor is there one specific route of treatment. Treatment options such as surgery, physical and speech therapy, plastic reconstructive surgery, and nerve and muscle transfers are strictly supportive and primarily depend on one’s symptoms.

Research on Moebius syndrome has increased significantly within the last 10 years. The Moebius Syndrome Foundation has partnered with the National Institute of Health (NIH), the NIH Office of Rare Diseases (ORD), the National Institute of Neurological Disorders and Stroke (NINDS), the National Institute of Dental and Craniofacial Research (NIDCR), and numerous researchers from 9 countries around the world to expand 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 regarding Moebius syndrome:

  1. Impairments of Oral Language in Mobius Syndrome – Fortaleza University (completed)
  2. Positive Exposure: A Photography and Video Intervention for Individuals with Craniofacial Differences – National Human Genome Research (completed)
  3. Study on Moebius Syndrome and Congenital Facial Weakness Disorders – National Institutes of Health Clinical Center (recruiting)
  4. Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies – Boston Children’s Hospital (recruiting)Sturge-Weber syndrome is a neurological disorder. It is determined at birth by its port-wine stain colored birthmark on one side of the face, specifically 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 beneath 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, from which the birthmark is located. These usually begin in infancy 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 bulging out of socket) and recurrent migraines.

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