HUM-MOLGEN DIAGnostics/Clinical Research

1 July 1998
Renal-hepatic-pancreatic dysplasia and laterality defects (MIM 263200) 

I have a 2 year old patient with renal-hepatic-pancreatic dysplasia and laterality defects (MIM 263200).

She is developmentally normal, and has good renal function, and her liver function is good after a procedure to bypass extra-hepatic biliary atresia.

This human condition is thought to be the equivalent of the mouse inv mutant. However, all the reports I can find are about the neonatal stage of the disease. Does anyone has any information on the longer term outcome on children with this condition?

The parents are also keen to talk to (or e-mail) any other parents of a child with the same condition.

Can anyone help ?

Andrew Green
Prof. of Medical Genetics
National centre for Medical Genetics
Our Lady's Hospital
Crumlin Dublin 12