Aprosencephaly/atelencephaly spectrum
Synonyms: AP/AT spectum
A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i. e. telencephalon and diencephalon) with an intact cranial vault. The spectrum comprises atelencephaly the less severe form in which only the telencephalon is affected and aprosencephaly where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Aprosencephaly/atelencephaly spectrum?
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Advocacy Organizations
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Curing single-gene disorders
COMBINEDBrain Inc
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Syndromes Without A Name (SWAN) Australia
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