A distinct dysmorphy syndrome of congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation.
The principal symptoms are coarse facies characterised by midface retraction, bulging forehead, facial hemangiomas, short nose with anteverted nostrils, malformed ears, protruding large tongue, and hypertelorism. Skeletal defects include open cranial sutures, steep short skull, wide occipital synchondrosis, multiple wormian bones, hypoplastic ribs, and broad ribs; limb defects consist of postaxial polydactyly, clubfoot, mesomelic brachymelia, and hypoplasia of distal phalanges. Choanal stenosis, redundant neck skin, hypoplastic nipples, strial septal defects, hypoplastic dermal ridges, simian creases, hyper convex nails, hypospadias, microphallus, hypertrichosis, and seizures are frequently associated. The affected patients usually die in infancy. Probably a single gene autosomal recessive disorder.
First described by Schinzel and Giedion i 1978. The eponymic term was coined by Kelley and McKusick.
The term Schinzel's syndrome has been used as a synonym for ulno-mammary syndrome type Pallister. Main entry as Pallister's syndrome, under Philip D. Pallister, American paediatrician and human geneticist, born 1920.
- A. Schinzel, A. Giedion:
A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.
American Journal of Medical Genetics, New York, 1978, 1: 361-375.
- R. I. Kelley, E. H. Zackai, E. B. Charney:
Congenital hydronephrosis, skeletal dysplasia and severe developmental retardation. The Schinzel-Giedion syndrome.
Journal of Pediatrics, St. Louis, 1982, 100: 943-946.