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Disease: Fronto-facio-nasal dysplasia

  • A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome
  • Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report
  • Child with fronto-facio-nasal dysplasia, Hirschsprung's disease and hypospadias
  • Fronto-facio-nasal dysplasia
  • Fronto-facio-nasal dysplasia in two sisters with additional findings
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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