Kabuki Syndrome Type 2
Description
Kabuki syndrome type 2 is a rare genetic disorder that affects various aspects of a person‘s development. Characterized by unique facial features and developmental delays, it can also impact growth, hearing, and other bodily functions. This blog provides comprehensive information about Kabuki syndrome type 2, including its causes, symptoms, diagnosis, management, and strategies for thriving.
Genes Involved
Kabuki syndrome type 2 is caused by mutations in specific genes. The most commonly implicated genes include:
- KMT2D
- KMT2A
- MLL2
These genes play a crucial role in regulating gene expression, which is essential for normal development. Mutations in these genes disrupt this process, leading to the characteristic features of Kabuki syndrome type 2.
Recognizing the Signs and Symptoms
Recognizing the signs and symptoms of Kabuki syndrome type 2 is crucial for early diagnosis and intervention. Individuals with this condition often exhibit distinctive facial features, such as:
- Prominent eyebrows with a wide space between them
- Long eyelashes
- Downward slanting eyes
- Ears that are low-set or malformed
- A prominent nasal bridge
Developmental delays are another hallmark of Kabuki syndrome type 2. These delays can affect:
- Cognitive development
- Motor skills
- Speech and language development
- Social skills
Other possible symptoms include:
- Heart defects
- Skeletal abnormalities
- Feeding difficulties
- Hearing loss
- Vision problems
- Increased risk of infections
Causes
Kabuki syndrome type 2 is caused by genetic mutations, specifically in the genes responsible for regulating gene expression. These mutations can occur spontaneously or be inherited from a parent. While the exact cause of these mutations is unknown, some factors might increase the risk, such as parental age.
Inheritance/recurrence risk
The inheritance pattern of Kabuki syndrome type 2 varies depending on the specific gene involved and the mutation. Some mutations are inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene from one parent is sufficient to cause the condition. Others are inherited in an autosomal recessive pattern, requiring both parents to carry the mutated gene for their child to be affected. The recurrence risk depends on the specific inheritance pattern and the parents‘ genetic makeup. Genetic counseling can provide more precise information about the inheritance risk in each case.
