Oculofacialcardiodental Syndrome (OFCD) -CEW

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======Oculofacialcardiodental Syndrome (OFCD) ======
====Main Features====
  *  Congenital Cataracts
  * Cleft Palate
  * Distinctive faces with long narrow face
  * Congenital Heart Defects
  * Dental anomalies
    * radiculomegaly
    * oligodontia

====Eye Findings====
  * Congenital Cataracts
  * Microphthalmia
  * Glaucoma after cataract surgery 
====Other Findings====
  * ASD, VSD
====Etiology====
  * X-linked dominant
  * BCOR gene mutations
  * Lethal to male embryos
====Resources====
  * [[https://medlineplus.gov/genetics/condition/oculofaciocardiodental-syndrome/|Medline Plus]]
  * [[https://pubmed.ncbi.nlm.nih.gov/37157789/ |Molerio, AF et al. Ocular severe involvement in oculofacialcardiodental syndrome: Description of a case series. Eur J Ophthalmol. 2024;34(1):NP6-NP11]]

{{tag>syndrome}}

syndrome