Sanfilippo Syndrome
Description
Sanfilippo Syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare genetic disorder that affects children. It causes a buildup of complex sugars in the body, leading to progressive damage to various organs and tissues. This article provides comprehensive information on Sanfilippo Syndrome, covering its symptoms, causes, diagnosis, management, and how families can thrive despite the challenges.
Genes Involved
Sanfilippo Syndrome is caused by mutations in one of four genes involved in the breakdown of heparan sulfate, a complex sugar. These genes are:
- SGSH (MPS IIIA)
- NAGLU (MPS IIIB)
- HGSNAT (MPS IIIC)
- GNS (MPS IIID)
Recognizing the Signs and Symptoms
The signs and symptoms of Sanfilippo Syndrome typically appear in early childhood and worsen over time. Some common symptoms include:
- Developmental Delays: Children with Sanfilippo Syndrome may experience delays in speech, language, and motor skills.
- Behavioral Problems: They might exhibit hyperactivity, aggression, and self-injurious behaviors.
- Physical Features: Facial features may include a coarse face, prominent forehead, and large ears.
- Hearing Loss: Hearing impairment can occur as the disorder progresses.
- Skeletal Deformities: Bones may become fragile and prone to fractures.
- Sleep Disturbances: Sleep apnea and other sleep problems can arise.
- Progressive Neurological Deterioration: The accumulation of complex sugars can impact brain function, leading to cognitive decline and seizures.
Causes
Sanfilippo Syndrome is an inherited disorder, meaning it is passed down from parents to their children. Both parents must carry the mutated gene for a child to develop the condition. If one parent carries the gene, their children have a 50% chance of inheriting it. However, if both parents carry the gene, their children have a 25% chance of inheriting two copies of the mutated gene and developing Sanfilippo Syndrome.
Inheritance/recurrence risk
Sanfilippo Syndrome is inherited in an autosomal recessive pattern. This means that a child must inherit two copies of the mutated gene, one from each parent, to develop the condition. If both parents are carriers of the mutated gene, they have a 25% chance of having a child with Sanfilippo Syndrome with each pregnancy. There is also a 50% chance that each child will be a carrier of the gene, but not have the condition. Genetic counseling can help families understand their risk of having a child with Sanfilippo Syndrome.
