Orphanet: Holoprosencephaly caudal dysgenesis syndrome

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Disease definition

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).

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Holoprosencephaly-caudal dysgenesis syndrome

ORPHA:2165

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()

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