Multiple Pterygium Syndrome (CHRNG)
Multiple pterygium syndrome is an autosomal recessive disorder caused by pathogenic variants in the gene CHRNG. Symptoms typically begin in utero with intrauterine growth retardation and fetal akinesia sequence (decreased fetal movement with joint contractures). The severe form of this disorder, known as lethal multiple pterygium syndrome, is fatal before birth or shortly after birth. A more mild form of the disorder, known as Escobar type, is typically nonlethal. Features of Escobar type include scoliosis, arthrogryposis, lung hypoplasia, cryptorchidism, and distinctive facial features. In addition to those features of Escobar type, symptoms of lethal multiple pterygium syndrome include cystic hygroma, organ hypoplasia, intestinal malrotation, congenital diaphragmatic hernia, cleft palate, and/or microcephaly.
For information about carrier frequency and residual risk, please see the residual risk table.