Q04.2

Clinical Causes: Genetic mutations, such as alterations in the SHH gene Chromosomal abnormalities, including Trisomy 13 (Patau syndrome) Environmental factors, such as maternal diabetes, alcohol consumption, or exposure to certain drugs during pregnancy Multiple gene and environmental interactions that interfere with normal brain development Rare familial inheritance patterns

Key Symptoms: Facial abnormalities, including closely spaced eyes, a small or absent nose, or cleft lip/palate Varying degrees of intellectual disability Seizures, depending on brain involvement Hydrocephalus (accumulation of fluid in the brain) Abnormal eye development, such as cyclopia (single eye) or other ocular anomalies Poor muscle tone (hypotonia) and feeding difficulties in infants Neurological impairments, including developmental delays

Diagnosis Path: Ultrasound examinations during pregnancy can detect brain and facial anomalies Fetal MRI provides detailed imaging of fetal brain structures Postnatal imaging techniques like MRI or CT scans confirm brain malformation Genetic testing, including chromosomal analysis and gene sequencing, helps identify underlying mutations Physical examination assessing facial features and neurological function

Treatment Protocols: Supportive care tailored to specific symptoms, such as feeding assistance and managing seizures Surgical interventions, for example, correction of cleft lip or palate Therapies including physical, occupational, and speech therapy to promote development Regular monitoring by a multidisciplinary team involving neurologists, geneticists, and other specialists Provision of supportive resources and counseling for families