Holoprosencephaly-caudal dysgenesis syndrome
Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly abnormal eye morphology (hypotelorism cyclopia exophthalmos) nasal anomalies (single nostril or absent nose) and cleft lip/palate combined with signs of caudal regression (sacral agenesis sirenomelia with absent external genitalia).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Holoprosencephaly-caudal dysgenesis syndrome?
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