Acalvaria

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MESH via Orphanet 44 C535570 D009436 ICD10 via Orphanet 33 Q00.0 UMLS via Orphanet 72 C0702169 C2930936

Orphanet 58 ORPHA945 SNOMED-CT via HPO 68 18735004 194021007 205131007 22006008 230745008 30915001 398309008 63567004 67531005 87979003 91842005 more UMLS 71 C2930936

NIH Rare Diseases : ⁵² Primary acalvaria is an extremely rare malformation characterized by the absence of the flat skull bones of the brain, dura mater , and scalp muscles. The skull base and facial features are fully formed and usually appear normal. The cause of acalvaria is still unknown. Acalvaria can be distinguished from anencephaly , the most common differential diagnosis , by the presence of a layer of skin overlying the brain matter and normal cerebral hemispheres. This malformation is most often lethal at birth due to other associated anomalies or to trauma during delivery, but a few surviving infants have been reported. Prenatal diagnosis via transvaginal ultrasound and/or magnetic resonance imaging is critical for better pregnancy management. The initial treatment is conservative, mainly aimed at supportive care and management of any associated anomalies, if present. Infants with acalvaria are managed conservatively in the newborn period because spontaneous bone growth has been seen in some newborns with other skull abnormalities, such as aplasia cutis congenita . Skull reconstruction by bone grafting and cranioplasty at school age has been discussed in the literature.

MalaCards based summary : Acalvaria, also known as primary acalvaria, is related to hydrocephalus and holoprosencephaly. Affiliated tissues include bone, brain and skin, and related phenotypes are aplasia/hypoplasia of the cerebellum and abnormality of neuronal migration

Wikipedia : ⁷⁴ Acalvaria is a rare malformation consisting of absence of the calvarial bones, dura mater and associated... more...

Search Clinical Trials , NIH Clinical Center for Acalvaria

Search GEO for disease gene expression data for Acalvaria.