SITCDKP syndrome

Definition: situs inversus totalis with reno-pancreatic dysplasia.

Synopsis

 situs inversus totalis

 renopancreatic dysplasia (renopancreatic dysplastic syndrome) HP.10707

• renal non-obstructive multicystic dysplasia
  • immature renal mesenchyme
  • cystically dilated tubules
  • renal cartilage nodules
• functional hypoplastic bladder

• pancreatic dysplasia
  • immature pancreatic mesenchyma
  • cystically dilated pancreatic ducts (pancreatic ductal dilatation)
  • pancreatic acinar dysplasia (pancreatic acinar dysgenesis)
  • islet cell agenesis/islet cell dysgenesis

 cerebral ventriculomegaly
 hypoplastic thymus
 normal liver

• no ductal plate malformation (DPM)
• no hepatic cysts

 severe intrauterine growth retardation (severe IUGR)
 oligohydramnios sequence

• oligohydramnios face
• bowing of the lower limbs
• bowing of the clavicles
• pes equinovarus
• flexion contracture of the hands

Differential diagnosis

 other renopancreatic dysplastic syndromes
 hepatorenopancreatic dysplastic syndromes

• but situs inversus totalis
• but absence of hepatic fibrosis or hepatic cysts

See also

 Crawfurd syndrome
 renopancreatic dysplastic syndromes
 multicystic renal dysplasia with situs inversus totalis (MRD with situs inversus totalis)

References

 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#