Primary care
Recommendation 1
Surviving infants may need OT/PT/educational support
Acalvaria
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Malformation characterized by the absence of the flat skull bones of the brain, dura mater, and scalp muscles
Common symptoms
Abnormal skull morphologycerebellum hypoplasiapostaxial hand polydactylyabnormal bones of the skullabnormal lung lobation
When to suspect
Recommendation 1
Prenatal diagnosis via ultrasound and/or magnetic resonance imaging
How to test
Recommendation 1
Prenatal diagnosis via ultrasound and/or magnetic resonance imaging
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Often lethal during birth. If infant survives, supportive treatment, corrective surgeries as needed. Spontaneous bone growth has been reported in infancy
Further support
Recommendation 1
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
Clinical Trials
Sources
No data available
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