Highlight text to suggest edits
Disease found: | Acrocallosal syndrome (Schinzel type) |
Current as of: | October 8, 2024 |
Disease Overview: | Genetic disorder characterized by underdevelopment or complete absence of the corpus callosum resulting in mental retardation. [more info]; KIF7 and GLI3 are implicated [more info] |
Signs and Symptoms: | Brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features [more info] |
Diagnosis: | Clinical examination, identification of characteristic physical findings, x-ray studies; advanced imaging techniques, such as computed tomography (CT) scanning or magnetic resonance imaging (MRI) [more info] |
Treatment: | Symptom specific; hydrocephalus patients indicated for CSF shunt [more info]. |
Clinical Management: | Supprotive therapies and symptom specific [more info] |
Referral: | A few currently in France [more info]. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
Clinical Trials: | None available [more info] |