Siegler-Brewer-Carey syndrome

Definition

A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992.

Disease data

Classification

Malformation syndrome

ORPHA code

3167

OMIM code

ICD10 code

J98.8

ICD11 code

*Soruce