/Beemer-Langer syndrome

Beemer-Langer syndrome

Rare Disease

MONDO:0010024

Also Known As

Beemer-Langer syndromeshort rib-polydactyly syndrome type 4type IV short rib polydactyly syndromeBeemer Langer syndromeSRPS type 4SRTD12Srps 4short rib polydactyly syndrome Beemer-Langer typeshort rib syndrome, Beemer typeshort rib-polydactyly syndrome Beemer typeshort rib-polydactyly syndrome type IVshort rib-polydactyly syndrome, Beemer-Langer typeshort rib-polydactyly syndrome, type 4short-rib thoracic dysplasia 12

Definition

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.