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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
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Holoprosencephaly-caudal dysgenesis syndrome?
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