Short-rib polydactyly syndromes (SRPS) and Asphyxiating thoracic dystrophy (ATD) or Jeune Syndrome are recessively inherited skeletal ciliopathies characterized by profound skeletal abnormalities and are frequently associated with polydactyly and multiorgan system involvement. SRPS are produced by mutations in genes that participate in the formation and function of primary cilia and usually res...

A 34-week-old male fetus (first diagnosed at 28 weeks of gestation) with short rib polydactyly type I Saldino-Noonan syndrome is presented in this study. In the postmortem examination of the fetus, pancreatic dysplasia, multiple cysts and multicystic dysplastic kidneys, omphalomesenteric cyst, ascites, malrotation, micropenis, undescended testes, bilateral inguinal hernia and hydrops were obser...

Short rib-polydactyly syndrome (SRPS) is a rare congenital autosomal recessive inherited disease classified in four subtypes. Prenatal ultrasonography findings and postnatal examinations may help classify one of We present case an infant who presented multiple anomalies the radiography helped to SRPS as type IV (Beemer-Langer). A 23-year-old was referred for prenatal ultrasound which showed cys...

Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound exami...

how to cite this article: singhal r, pandit s, saini a, singh p, dhawan n. the acrocallosal syndrome in a neonate with further widening of phenotypic expression. iran j child neurol. 2014 spring;8(2):60-64.   the presentation of the typical characteristics of the acrocallosal syndrome (acls) are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic cranio...

The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs and polydactyly. Mutations in several genes affecting intraflagellar transport (IFT) cause SRPS but they do not account for all cases. Here we identify an additional SRPS gene and further unravel the func...