Schinzel-Giedion syndrome

Schinzel-Giedion syndrome

a rare syndrome, probably of autosomal-recessive inheritance, of hydronephrosis, skeletal abnormalities, flattened midface, hypertrichosis, seizures, and profound growth and developmental retardation.
References in periodicals archive ?
14) These include numerous diseases in which the genetic basis had remained elusive, such as Miller syndrome, Kabuki syndrome, Schinzel-Giedion syndrome, and metachondromatosis.
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
A wide range of genetic conditions was represented in the study population, such as metabolic disorders, proprionic acidemia, methylmalonic acidemia, arginosiccinic acidemia; and Lesch-Nyhan syndrome, Schinzel-Giedion syndrome, tuberous sclerosis, Down syndrome, and fragile X syndrome.