How Rare Is Jackson-Weiss Syndrome?

How Rare Is Jackson-Weiss Syndrome? Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. How does someone get Jackson-Weiss syndrome? Mutations in the FGFR2 gene cause

Is Moebius Syndrome Hereditary?

Is Moebius Syndrome Hereditary? The primary cause of Moebius syndrome is unknown and most cases occur sporadically. While medical literature presents conflicting theories, the majority of research suggests a combination of genetic and environmental risk factors. Some cases suggest an increased risk of transmitting the condition from parent to child. Can Moebius syndrome be passed

What Disease Causes Facial Disfigurement?

What Disease Causes Facial Disfigurement? Treacher Collins syndrome, also known as mandibulofacial dysostosis, is a rare disease that affects facial bone development, causing major facial deformities. What causes facial disfigurement? So what are the most common causes of facial disfigurement – they include: birth related disfigurements including a cleft lip, birthmark or cranio-facial condition; physical