kanttioireyhtymää

Kanttioireyhtymää, also known as Cantu Syndrome, is a rare genetic disorder characterized by a distinct set of physical and developmental features. It belongs to a group of conditions called RASopathies, which are caused by mutations in genes that are part of the RAS/MAPK signaling pathway. This pathway plays a crucial role in cell growth, differentiation, and development.

Individuals with Cantu Syndrome typically exhibit an elongated skull shape (scaphocephaly) and a prominent forehead. Other common facial features include widely spaced eyes (hypertelorism), a broad nasal bridge, and a small chin. A characteristic feature is the presence of generalized hypertrichosis, which is excessive hair growth on the body. Many affected individuals also have enlarged fontanelles, the soft spots on a baby's head.

Developmental delays are frequently observed in Cantu Syndrome, affecting motor skills, speech, and cognitive abilities. Intellectual disability can range from mild to severe. Seizures are also a common manifestation, often starting in infancy. Cardiac abnormalities, such as hypertrophic cardiomyopathy, are also a significant concern. Gastrointestinal issues, including feeding difficulties and reflux, are also reported.

The genetic basis of Cantu Syndrome lies in mutations in the gene KCNQ2, which encodes a potassium channel. These mutations lead to dysregulation of neuronal excitability and other cellular processes. The inheritance pattern is typically autosomal dominant, meaning that a single copy of the mutated gene is sufficient to cause the disorder. However, spontaneous mutations can also occur. Diagnosis is usually made based on clinical presentation and confirmed by genetic testing. Management of Cantu Syndrome is supportive and focuses on addressing the specific symptoms and complications of the condition.