Pseudotrisomy 13 syndrome
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2166
Definition
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).
Epidemiology
Incidence is unknown.
Clinical description
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
Antenatal diagnosis is possible by ultrasonographic monitoring.
Genetic counseling
The condition seems to be inherited as an autosomal recessive trait.
Prognosis
Prognosis is poor.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Dallas, TX, 75219-3993, Phone: (214) 559-8411 Toll Free: (800) 421-1121 Email: hpe@tsrh.org Url: http://www.hperesearch.org/index.html
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