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Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

Disease definition

A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.

ORPHA:100978

Classification level: Disorder
  • Synonym(s):
    • Benallegue-Lacete syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.5
  • ICD-11: LD24.GY
  • OMIM: -
  • UMLS: C5190852
  • MeSH: -
  • GARD: 853
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

Additional information

Further information on this disease

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Research activities on this disease

Specialised Social Services

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