/Czeizel-Losonci syndrome

Czeizel-Losonci syndrome

Rare Disease

MONDO:0008467

Also Known As

split hand with obstructive uropathy, spina bifida and diaphragmatic defectssplit hand-urinary anomalies-spina bifida syndromesplit hand urinary anomalies spina bifidasplit-hand with obstructive uropathy, spina bifida, and diaphragmatic defects

Definition

Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.