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Czeizel-Losonci syndrome
rareCzeizel-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.
- Identifiers
- MONDO:0008467 OMIM:183802Orphanet:2437
- Part of
- Multiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- split hand urinary anomalies spina bifida · split hand with obstructive uropathy, spina bifida and diaphragmatic defects · split hand-urinary anomalies-spina bifida syndrome
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