Verloove Vanhorick-Brubakk syndrome

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Synonyms: Cleft lip-limb and heart malformations syndrome

Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri bilateral absence of metatarsal and metacarpal bone in hands and feet bilateral partial syndactyly of fingers and toes or oligopolysyndactyly deformed lumbosacral spine) congenital heart disease (truncus arteriosus) lung and urogenital malformations (bilateral bilobar lungs horseshoe kidney cryptorchidism) and facial malformations (bilateral cleft lip and palate micrognathia small low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.

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 May 2024

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