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The condition is caused by a deficient matrix protein, collagen type XXVII alpha 1 chain, due to bi\u2010allelic loss of function mutations in the gene <jats:italic>COL27A1<\/jats:italic>. Outside of Puerto Rico, only four families have been described, in three of which the patients also had hearing loss. However, structural eye defects have not yet been reported in conjunction with this rare autosomal recessive syndrome. Here, we describe a 9\u2010year\u2010old girl born to nonconsanguineous Syrian parents with the characteristic features of Steel syndrome, including short stature, massive malalignment of large joints, kyphoscoliosis, hearing loss, and typical facial dysmorphism. However, she was also born with bilateral colobomata of the irides and choroido\u2010retinae with unilateral affection of the macula. Whole exome sequencing identified two pathogenic compound heterozygous variants in <jats:italic>COL27A1<\/jats:italic>: c.93del, p.(Phe32Leufs*71) and c.3075del, p.(Lys1026Argfs*33). There was no discernible alternative cause for the colobomata. Our findings might indicate an association of this exceptionally rare disorder caused by <jats:italic>COL27A1<\/jats:italic> mutations with developmental defects of the eye from the anophthalmia\/microphthalmia\/coloboma spectrum.<\/jats:p>","DOI":"10.1002\/ajmg.a.61478","type":"journal-article","created":{"date-parts":[[2020,1,8]],"date-time":"2020-01-08T13:51:48Z","timestamp":1578491508000},"page":"730-734","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["A Syrian patient with Steel syndrome due to compound heterozygous <i>COL27A1<\/i> mutations with colobomata of the eye"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1796-2287","authenticated-orcid":false,"given":"Laura","family":"P\u00f6lsler","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Medical University Innsbruck  Innsbruck 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