Ophthalmo-acromelic syndrome in an infant

Eur J Med Genet. 2019 Jul;62(7):103664. doi: 10.1016/j.ejmg.2019.05.003. Epub 2019 May 5.


Ophthalmo-acromelic syndrome is a rare autosomal recessive disorder characterized by ocular and skeletal abnormalities. Ocular findings present as a wide spectrum, ranging from mild microphthalmia to true anophthalmia. Short 5th finger, synostosis of 4th and 5th metacarpals, and oligodactyly in feet are frequent limb malformations. Homozygous variants in the SMOC1 gene (SPARC-related modular calcium-binding protein 1 gene) were identified as causative for the syndrome. A 9-month-old female patient is presented herein, who was diagnosed with ophthalmo-acromelic syndrome and had a homozygous nonsense mutation (p.Arg75Ter) in SMOC1, along with a review of the literature.

Keywords: Anophthalmia; Oligosyndactyly; Ophthalmo-acromelic syndrome; SMOC1.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Codon, Nonsense
  • Female
  • Homozygote
  • Humans
  • Infant
  • Osteonectin / genetics
  • Waardenburg Syndrome / genetics*
  • Waardenburg Syndrome / pathology


  • Codon, Nonsense
  • Osteonectin
  • SMOC1 protein, human

Supplementary concepts

  • Anophthalmos with limb anomalies