Short rib polydactyly syndrome type III

Short-rib-polydactyly-syndrome type III {SRPS3}, which is also called Verma-Naumoff syndrome. It is a very rare syndrome characterised by short ribs, various gastrointestinal, cranial structural abnormality, post-axial polydactyly, cystic renal disease, heart and laterality disorder, ambiguous genitalia. {1} Homozygosity or compound heterozygosity for missense or nonsense mutations in the cytoplasmic dynein 2 heavy chain 1 gene {DYNC2H1} are reported in SRPS3. {2} Differential diagnosis include Ellis-van Creveld syndrome, Acropectoral syndrome, Greig-cephalopolysyndactyly syndrome, Saldino-Noonan syndrome, Acrocallosal syndrome. The Verma-Naumoff type was first published in 1983 as a subtype of Type I, since most of its characteristics are the same as those of Type I. It differs from Type I as the bones of the extremities and the iliac bones show better ossification, and visceral organ anomalies occur less often. {3} Generally this syndrome is diagnosed by pre and post natal ultrasonography, radiography, post mortem examination and genetic analysis. {4} But there is no treatment or prevention available for this syndrome.

E-published: January-March 2014 Vol 11 Issue 1 Art No. 2

References :

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