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Disease: Sparse hair ptosis mental retardation

  • A Novel <em>ZBTB20</em> Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features
  • Anesthesia of a patient with Dubowitz syndrome -A case report-
  • Cardio-facio-cutaneous syndrome--visual diagnosis of a rare syndrome
  • Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients
  • Neuroimaging features in congenital trichomegaly: the Oliver-McFarlane syndrome
  • Oliver McFarlane syndrome: two new cases and a review of the literature
  • Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation
  • Primrose Syndrome
  • Recurrent Ptosis in a Case of Dubowitz Syndrome
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About CheckOrphan

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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