Beemer-Langer syndrome
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:0018770
Jeune syndrome
is_a
Beemer Langer syndrome
related
Beemer-Langer syndrome
exact
SRPS type 4
related
SRTD12
related
short rib polydactyly syndrome Beemer-Langer type
related
short rib-polydactyly syndrome Beemer type
related
short rib-polydactyly syndrome type 4
exact
short rib-polydactyly syndrome type IV
related
short-rib thoracic dysplasia 12
related