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Czeizel-Losonci syndrome

Disease 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.

ORPHA:2437

Classification level: Disorder
  • Synonym(s):
    • Split hand with obstructive uropathy, spina bifida and diaphragmatic defects
    • Split hand-urinary anomalies-spina bifida syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 183802
  • UMLS: C1866739
  • MeSH: C566662
  • GARD: 4969
  • MedDRA: -

  A summary on this disease is available in Español (2015) Italiano (2015) Nederlands (2015) Deutsch (2004) Français (2004)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.