Details of Disease

General Information of Disease (ID: DIS3TBQE)

• Disease Name: Beemer-Langer syndrome
• Synonyms: 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; Beemer-Langer syndrome; short rib-polydactyly syndrome type 4; type IV short rib polydactyly syndrome
• 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.
• Disease Hierarchy:
  DISLC357: Jeune syndrome
  DIS3TBQE: Beemer-Langer syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010024
  MESH ID: C537599
  UMLS CUI: C0432198
  OMIM ID: 269860
  MedGen ID: 96578
  Orphanet ID: 93268
  SNOMED CT ID: 254052001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IFT80	OTMH0MBI	Supportive	Autosomal recessive	[1]
IFT122	OTSK3OAD	Strong	Genetic Variation	[2]

References

• [1] Mutations in IFT80 cause SRPS Type IV. Report of two families and review. Am J Med Genet A. 2019 Apr;179(4):639-644. doi: 10.1002/ajmg.a.61050. Epub 2019 Feb 14.
• [2] Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.Am J Med Genet A. 2017 May;173(5):1186-1189. doi: 10.1002/ajmg.a.38157. Epub 2017 Mar 28.