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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]

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