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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Short rib-polydactyly syndrome, Beemer-Langer type?
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