Brachydactyly, Coloboma, And Anterior Segment Dysgenesis

Clinical Features

Quinn et al. (2004) described a 3-generation family with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly. The proband presented at age 28 years with a painful eye with severely reduced visual acuity. Anterior segment dysgenesis, microphthalmia, inferior iris coloboma, and iridocorneal adhesion with overlying corneal opacity were present. Elevated intraocular pressure was presumed secondary to goniodysgenesis. She also reported mild learning disability and mild hearing impairment. She had undergone cleft palate repair as a child. She had short stature (163.5 cm), and her hands and feet showed brachydactyly and clinodactyly. Her karyotype was normal female. Her brother had neither limb nor ocular abnormalities. Her only son had brachydactyly with single palmar creases and syndactyly of the 2nd and 3rd toes, short stature (163.5 cm), flat philtrum with no evidence of cleft lip or palate, and iris coloboma. Her mother had short stature (153 cm), highly arched palate, and brachydactyly and clinodactyly identical to her daughter and grandson.

Inheritance

The transmission pattern of the disorder in the family reported by Quinn et al. (2004) was consistent with autosomal dominant inheritance with incomplete penetrance or X-linked inheritance with variable expressivity.