SITCDKP syndrome
MIM.603643
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