Czeizel-Losonci syndrome

Orpha code: 2437OMIM code: 183802

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.

Disease data
Classification

Malformation syndrome

Synonyms
Split hand with obstructive uropathy, spina bifida and diaphragmatic defects
Rozszczep dłoni - wady układu moczowego - rozszczep kręgosłupa
Rozszep dłoni z uropatią obstrukcyjną, rozszczepem kręgosłupa i wadami przepony
Split hand-urinary anomalies-spina bifida syndrome
ORPHA code
2437
OMIM code
183802
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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