Short rib-polydactyly syndrome, Majewski type
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 September 2023.
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Short rib-polydactyly syndrome, Majewski type?
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Advocacy Organizations
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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