Short rib-polydactyly syndrome, Beemer-Langer type
Synonyms: Short rib-polydactyly syndrome type 4
A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax small iliac bones short tubular bones with smooth metaphyseal margins and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects while post-axial polydactyly is rare. Additional features may include cleft lip absence of internal genitalia and renal biliary and pancreatic cysts among others.
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
Newly diagnosed with
Short rib-polydactyly syndrome, Beemer-Langer type?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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