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Ptosis - strabismus - rectus abdominis diastasis

Orpha number ORPHA2998
Prevalence of rare diseases <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD 10 code -
MIM number
Synonym(s) Carnevale-Krajewska-Fischetto syndrome

Summary

This syndrome is characterised by ptosis, blepharophimosis, epicanthus inversus, convergent strabismus, partial agenesis of the abdominal muscle, hip dislocation, cryptorchidism and developmental delay. It has been described in two brothers. Consanguinity in their parents suggests autosomal recessive inheritance. *Author: Orphanet (October 2006)*.

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