Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I)

Shilpa Chetty-John, Katie Piwnica-Worms, Joy Bryant, Isa Bernardini, Roxanne E. Fischer, Theo Heller, William A. Gahl, Meral Gunay-Aygun

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


OFD I is an X-linked dominant male-lethal ciliopathy characterized by prominent external features including oral clefts, hamartomas or cysts of the tongue, and digital anomalies. Although these external features are easy to recognize and often lead to diagnosis in early childhood, visceral findings in OFD I, especially the fibrocystic liver and pancreas disease, are under-recognized. In addition, while the occurrence of polycystic kidney disease (PKD) in OFD I is well known, few patients are evaluated and monitored for this complication. We report on two adult females diagnosed with OFD I in infancy, but not evaluated for visceral involvement. In adulthood, they were incidentally found to have severe hypertension and chronic renal insufficiency due to undiagnosed PKD. A pancreatic cystic lesion, also discovered incidentally, was thought to be malignant and led to consideration of major surgery. We present NIH evaluations, including documentation of OFD I mutations, extreme beading of the intrahepatic bile ducts, pancreatic cysts, and tabulate features of reported OFD I cases having hepatic, pancreatic, and renal cystic disease. Liver and pancreas are not routinely evaluated in OFD I patients. Increased awareness and lifelong monitoring of visceral complications, particularly involving the liver, pancreas, and kidney, are essential for timely and accurate treatment. Published 2010 Wiley-Liss, Inc. This article is a US Government work and, as such, is in the public domain in the United States of America. Published 2010 Wiley-Liss, Inc..

Original languageEnglish (US)
Pages (from-to)2640-2645
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume152 A
Issue number10
StatePublished - Oct 2010
Externally publishedYes


  • Caroli disease
  • Ciliopathy
  • Congenital hepatic fibrosis
  • Oral facial digital type I
  • Pancreatic cysts
  • Polycytsic kidney disease

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I)'. Together they form a unique fingerprint.

Cite this