SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/716091000
http://purl.bioontology.org/ontology/SNOMEDCT/716091000
Preferred Name

Holoprosencephaly and postaxial polydactyly syndrome

Definitions
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Incidence is unknown. Dysmorphic features include hypotelorism, severe eye anomalies such as microphthalmia or anophthalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor.
Synonyms
Holoprosencephaly and postaxial polydactyly syndrome (disorder)
Pseudotrisomy 13 syndrome
Type http://www.w3.org/2002/07/owl#Class
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