Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2

BMJ Case Rep. 2023 Jun 23;16(6):e252618. doi: 10.1136/bcr-2022-252618.


A male baby with bilateral cryptophthalmos without eyebrows, distorted anterior hairline, bifid nasal tip, low-set ears, hypertelorism and low anorectal anomaly who was phenotypically diagnosed with Manitoba oculo-tricho-anal syndrome (mutation in FREM1 gene) had an overlapping genotypic diagnosis of autosomal recessive Fraser syndrome 2 because of the presence of a closely related mutation in FREM2 This heterozygous variant was likely to be sporadic. Another mutation was identified in the CEP85L gene indicating lissencephaly 10. This genetic condition has abnormal gyri pattern in the occiput area. This form of lissencephaly is characterised by phenotypic heterogeneity whereby some patients have only mild mental retardation, while others have a very complex clinical picture.In conclusion, this rare condition with the overlap of genetics between several conditions highlights the need for genetic testing even in an low middle income country (LMIC).

Keywords: Genetics; Neonatal health; Ophthalmology.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Abnormalities, Multiple* / genetics
  • Cytoskeletal Proteins / genetics
  • Fraser Syndrome* / genetics
  • Genotype
  • Humans
  • Infant
  • Male
  • Manitoba
  • Microphthalmos*
  • Nose Diseases*
  • Oncogene Proteins, Fusion / genetics


  • CEP85L protein, human
  • Cytoskeletal Proteins
  • Oncogene Proteins, Fusion