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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2166
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).
Incidence is unknown.
Dysmorphic features include hypotelorism, severe eye anomalies such as microphtalmia or anophtalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common.
Antenatal diagnosis is possible by ultrasonographic monitoring.
The condition seems to be inherited as an autosomal recessive trait.
Prognosis is poor.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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