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Disease found:Acalvaria
Current as of:Thu Nov 14 2024
Disease Overview:Malformation characterized by the absence of the flat skull bones of the brain, dura mater, and scalp muscles [more info]
Signs and Symptoms:Abnormal skull morphology, cerebellum hypoplasia, postaxial hand polydactyly, abnormal bones of the skull, abnormal lung lobation [more info]
Diagnosis:Prenatal diagnosis via ultrasound and/or magnetic resonance imaging [more info]
Treatment:Often lethal during birth. If infant survives, supportive treatment, corrective surgeries as needed. Spontaneous bone growth has been reported in infancy [more info]
Clinical Management:Surviving infants may need OT/PT/educational support [more info]
Referral:No specific physicians specialize in this condition, often managed by pediatrics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical Trials:None are available, but can sign up to be notified when one becomes available

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