Acrocallosal syndrome. See full list on diseasesdic.

Acrocallosal syndrome . com May 24, 2012 · A rare autosomal recessive disorder characterized by postnatal growth retardation, polydactyly, and hypoplastic or absent corpus callosum. [3] The syndrome was first described by Albert Schinzel in 1979. A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. Associated symptoms and findings may be variable, including among affected members of the same family (kindred). Read More Read Less Aug 8, 2007 · Acrocallosal syndrome, Schinzel type is a rare genetic disorder that is apparent at birth (congenital). It is caused by mutations in the KIF7 gene and may overlap with Joubert syndrome. See full list on diseasesdic. Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. From MedlinePlus Genetics Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. It features agenesis of the corpus callosum, polydactyly, and distinctive facial features. [4] Acrocallosal syndrome is a rare disorder caused by gene mutations that affect brain and limb development. tjkd ijtch ucyke kbynm ifhbt utmydw cuje tfn jxxj nunis