Novel genetic syndrome manifesting with cerebral atrophy, cataract, hypoacusis, diabetes, and brachy-/syndactyly.

Abstract

Genetic disorders manifest clinically in a variety of phenotypes. A patient with cataract, hypoacusis, hand and foot deformities, and diabetes was not reported. The patient is a 74-year-old male with a history of congenital foot and hand deformities manifesting as brachydactyly of fingers 4 and 5 on the right side and brachydactyly and syndactyly of the fingers 1-5 on the left side. Foot deformities required orthopedic surgery from an early age. He later developed cataract that required surgery, hypoacusis with tinnitus on the left side, and diabetes. Cerebral MRI revealed generalized atrophy. Since the family history was positive for deaf muteness in his father, a genetic defect was considered. In summary, a novel syndrome has been described that manifests itself in cerebral atrophy, cataract, hypoacusis, hand and foot deformities, and diabetes. Considering the father's deaf muteness, a genetic cause of the syndrome is likely.