Mesoectodermal dysgenesis: familial iris anomaly.
A family is described with hypoplasia of the anterior iris stroma, no angle anomalies, and no glaucoma. The pedigree is suggestive of an autosomal dominant mode of inheritance. This is compared to the main peripheral malformations of the anterior chamber cleavage syndrome and other disease entities with similar iris changes. The pedigree represents a point on the continuum of mesoectodermal dysgenesis or anterior chamber cleavage syndrome.
D000328:Adult; D000867:Anterior Chamber / Q000196:embryology*; D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000235:genetics; D004475:Ectoderm; D005260:Female; D006801:Humans; D007498:Iris / Q000002:abnormalities* / Q000196:embryology / Q000473:pathology; D008297:Male; D008648:Mesoderm; D010375:Pedigree; D013577:Syndrome