Cooper-Jabs syndrome

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Cooper-Jabs syndrome

Synonyms: Aural atresia-multiple congenital anomalies-intellectual disability syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability ventricular septal defect umbilical hernia anteriorly displaced anus various skeletal anomalies (such as mild clubfoot long fifth fingers proximally placed thumbs) and craniofacial dysmorphism which includes brachycephaly prominent forehead flattened occiput midface hypoplasia anteverted nares and low set posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.

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 April 2024

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