Townes-Brocks syndrome
Townes-Brocks syndrome (Renal-Ear-Anal-Radial (REAR) syndrome) is a rare autosomal dominant disease characterized by renal, anal, ear, and thumb abnormalities.
Clinical presentation
The major manifestations of this syndrome include:
- renal: displaced or rotated kidneys, horseshoe kidney, polycystic kidney, hypoplastic kidneys
- anal: anteriorly placed, stenotic, or imperforate anus
- ears: abnormally shaped pinna, external auditory canal stenosis, hearing loss
- hands and feet: preaxial polydactyly or syndactyly, triphalangeal thumbs, overlapping foot or toe bones
- cardiac: tetralogy of fallot, defects of ventricular septum
- eyes: congenital cataracts, coloboma, microphthalmia
- periauricular tags and pits
- intellectual disability
Pathology
It is an autosomal dominant disorder due to a mutation in the SALL1 gene.
Radiographic features
CT scan will exhibit external auditory canal stenosis.
Treatment and prognosis
Manage the presenting manifestations of the disease:
- surgical correction of imperforate anus
- treatment of hearing loss early in the disease course
- hemodialysis and renal transplant for ESRD
- surgical correction of congenital cardiac defects
Differential Diagnosis
