Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed. [ Orphanet:3167 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C537335 (Orphanet:3167)
  • GARD:0004867 (MONDO:equivalentTo)
  • SCTID:721076000 (MONDO:equivalentTo)
  • Orphanet:3167 (MONDO:equivalentTo)
  • UMLS:C2931473 (Orphanet:3167)
Subsets

gard_rare, ordo_malformation_syndrome

definition

Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.

exactMatch

http://identifiers.org/mesh/C537335

http://www.orpha.net/ORDO/Orphanet_3167

http://identifiers.org/snomedct/721076000

http://linkedlifedata.com/resource/umls/id/C2931473

has related synonym

Siegler Brewer Carey syndrome

fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys

id

MONDO:0017849

seeAlso

https://rarediseases.info.nih.gov/diseases/4867/siegler-brewer-carey-syndrome

Term relations