Question

The moderate form of holoprosencephaly presents with cleft lip/palate. What are the other common features associated with this condition?

1) Intellectual disability
2) Seizures
3) Vision problems
4) Hearing loss

Answer 1

Holoprosencephaly presents with various symptoms, including intellectual disability, seizures, vision problems, and sometimes hearing loss. The severity of symptoms depends on the degree of brain malformation, and each requires specific medical attention.

Step-by-step explanation:

The moderate form of holoprosencephaly is a developmental disorder characterized not only by midline facial anomalies, such as cleft lip/palate, but also by other significant functional and structural issues. This condition can present with various common features, including:

• Intellectual disability, which can range from mild cognitive impairment to severe intellectual challenges.
• Seizures which can be a result of abnormal brain structure and function.
• Vision problems stemming from developmental anomalies in the brain and related structures.
• Hearing loss, although not as common, it can occur if the inner ear structures or nerve pathways are affected.

These features reflect the broad range of clinical variability seen in holoprosencephaly, which depends on the severity of the brain malformation. It is important to address each symptom individually with appropriate medical and supportive care.