Short rib-polydactyly syndrome, Majewski type

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Synonyms: Short rib-polydactyly syndrome type 2

A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen micromelia with particularly short tibiae with ovoid configuration pre- and postaxial polydactyly brachydactyly hypoplasia or aplasia of nails and dysmorphic craniofacial features (such as prominent forehead low-set and malformed ears short and flat nose lobulated tongue micrognathia and cleft lip/palate). Additional reported manifestations include urogenital gastrointestinal cardiovascular and cerebral malformations among others. The condition is fatal in the neonatal period.

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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Short rib-polydactyly syndrome, Majewski type?

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