[MIM 107 480]

Rare. Autosomal dominant transmission (50%) or sporadic. In 70% of cases, mutation of the SALL1 gene on 16q12.1  which codes for a transcription factor.

Association of:

-        an anorectal malformation

-        an abnormality of the thumbs and other abnormalities of the extremities: polydactyly, syndactyly

-        abnormalities of the external ear with deafness

-        and a progressive renal insufficiency following an urinary malformation (25%).

Sometimes congenital heart disease (25%), micrognathia

Anesthetic implications:

risk of difficult intubation. Renal failure. Heart disease

References : 

• Umesh G, Varghese E, Ellango A, Prabhu R.  
  Townes-Brocks syndrome- airway management conditions improve with age: report of  follow up of a single case.
  Pediatr Anesth 2009; 19: 284-6.

Updated: September 2018