Facio-cardio-cutaneous syndrome is a rare, genetic disorder that affects the skin, heart and blood vessels. It can cause facial abnormalities, heart defects and neurological problems. Facio-cardio-cutaneous syndrome is inherited in an autosomal dominant manner, which means that only one copy of the mutated gene from each parent is required for a child to inherit the disorder.The symptoms of facio-cardio-cutaneous syndrome vary from  Read More

There are several different types of mucolipidosis III (MLIII), each with its own set of symptoms and risk factors. The most common type is known as Sanfilippo type B (or Type B). There are also Sanfilippo types A and C, but these are much less common than Type B.The risk factors for MLIII include having a family member who has been diagnosed with it or another type of mucolipidosis. Other risk factors include havi  Read More

Ward-Romano syndrome is a rare genetic disorder that affects the development of the bones and joints of your fingers and toes. This condition can make it difficult to move your fingers and toes, which can cause pain or discomfort.Ward-Romano syndrome is caused by a mutation in a gene called GLI3. This gene helps regulate how cells divide and grow in the body. When this gene is mutated, it causes improper developmen  Read More