Definition: Malformative condition associating a pancreatic dysplasia with a renal dysplasia.
Synopsis
pancreatic dysplasia
renal dysplasia.
Variants
situs inversus totalis with cystic dysplasia of the kidney and pancreas (SITCDKP) (MIM.208540) (HP.5858)
Associations
situs inversus totalis in SITCDKP (MIM.208540) (HP.5858)
chondrodysplasia in Fraser-Jequier-Chen syndrome (2596528)
cleft epiglottis in Fraser-Jequier-Chen syndrome (2596528)
cleft larynx in Fraser-Jequier-Chen syndrome (2596528)
hexadactyly of hands and feet in Fraser-Jequier-Chen syndrome (2596528)
pancreatic cystic dysplasia in Fraser-Jequier-Chen syndrome (2596528)
renal dysplasia in Fraser-Jequier-Chen syndrome (2596528)
renal agenesis in Fraser-Jequier-Chen syndrome (2596528)
micropenis in Fraser-Jequier-Chen syndrome (2596528)
ambiguous genitalia in Fraser-Jequier-Chen syndrome (2596528)
imperforate anus in Fraser-Jequier-Chen syndrome (2596528)
References
Fraser FC, Jequier S, Chen MF. Chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/absence, micropenis and ambiguous genitalia, imperforate anus. Am J Med Genet. 1989 Nov;34(3):401-5. PMID: 2596528
Smith DW, Opitz JM, Inhorn SL. A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings. J Pediatr. 1965 Oct;67(4):617-24. PMID: 5832556
Balci S, Bostanoglu S, Altinok G, Ozaltin F. New syndrome?: Three sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts. Am J Med Genet. 2000 Jan 31;90(3):185-7. PMID: 10678653
Balci S, Bostanoglu S, Altinok G, Ozaltin F. Sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts: a new syndrome? Am J Med Genet. 1999 Jan 15;82(2):166-9. PMID: 9934983
Hiraoka K, Haratake J, Horie A, Miyagawa T. Bilateral renal dysplasia, pancreatic fibrosis, intrahepatic biliary dysgenesis, and situs inversus totalis in a boy. Hum Pathol. 1988 Jul;19(7):871-3. PMID: 3402978