loading...| Preferred Name |
Beemer-Langer syndrome |
|
| Synonyms |
Beemer-Langer syndrome short rib-polydactyly syndrome type 4 type IV short rib polydactyly syndrome Beemer Langer syndrome short rib-polydactyly syndrome, Beemer-Langer type short rib polydactyly syndrome Beemer-Langer type short rib-polydactyly syndrome, type 4 SRTD12 short-rib thoracic dysplasia 12 SRPS type 4 short rib-polydactyly syndrome type IV Srps 4 short rib syndrome, Beemer type short rib-polydactyly syndrome Beemer type |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010024 |
|
| has_exact_synonym |
Beemer-Langer syndrome short rib-polydactyly syndrome type 4 type IV short rib polydactyly syndrome |
|
| has_related_synonym |
Beemer Langer syndrome short rib-polydactyly syndrome, Beemer-Langer type short rib polydactyly syndrome Beemer-Langer type short rib-polydactyly syndrome, type 4 SRTD12 short-rib thoracic dysplasia 12 SRPS type 4 short rib-polydactyly syndrome type IV Srps 4 short rib syndrome, Beemer type short rib-polydactyly syndrome Beemer type |
|
| IAO_0000233 | ||
| label |
Beemer-Langer syndrome |
|
| prefixIRI |
MONDO:0010024 |
|
| prefLabel |
Beemer-Langer syndrome |
|
| textual 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. |
|
| subClassOf |