Polysyndactyly-cardiac malformation syndrome

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Synonyms: Bonneau syndrome

A rare life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects aortic dextroposition single ventricle hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel high forehead ptosis hypertelorism epicanthus low-set malformed ears prominent root of the nose bulbous nose anteverted nares long and smooth philtrum thin upper lip micrognathism hirsutism single transverse crease) nail hypoplasia phalange agenesis/hypoplasia flexion contractures polysplenia multiple hepatic/renal cysts atrophic biliary vesicle ductal plate malformation and genital anomalies (e.g. micropenis undescended testes hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy but survival cases have been reported.

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 July 2024

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