Fraser-Jequier-Chen syndrome
Synopsis
chondrodysplasia
situs inversus totalis
cleft epiglottis and larynx
hexadactyly of hands and feet
pancreatic cystic dysplasia (pancreatic dysplasia, pancreatic dysgenesis)
bilateral non-obstructive multicystic renal dysplasia (BNOMRD)
renal agenesis
micropenis and ambiguous genitalia, imperforate anus) (2596528)
See also
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