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| Disease found: | Acalvaria |
| Current as of: | Thu Nov 21 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 |