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Beemer-Langer syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.
Mondo Term and Equivalent IDs
MONDO:0010024:  Beemer-Langer syndrome
GARD:0004832: 
MESH:C537599: 
Orphanet:93268: 
SCTID:254052001: 
UMLS:C0432198: