Anophthalmia, Cleft Lip/Palate, Absent Vomer Bone, Nystagmus, and Mental-Motor Retardation: A New Syndrome or Fryns“Anophthalmia-Plus” Syndrome?

Objective: We report that a 4-year-old boy presented with right unilateral complete cleft lip and palate, right anophthalmos, left congenital nystagmus, absence of the vomer bone, mental-motor retardation, and normal lymphocyte karyotype (46, XY). Methods: For reconstruction of the deformities, we performed cleft lip repair by Millard's rotation-advancement technique and planned cleft palate repair. Conclusions: This combination of cleft lip and palate, anophthalmos, congenital nystagmus, absent vomer bone, and mental-motor retardation has not, to our knowledge, previously been described. We suggest that this represents either another case of the rare Fryns “anophthalmia-plus” syndrome or a new syndrome.