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Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
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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
A summary on this disease is available in
Français (2018)
Español (2018)
Italiano (2018)
Nederlands (2018)
Polski (2024)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
Newborn screening
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