Hand defects and the eye

Introduction

The combination of hand and eye defects is not uncommon and may accompany several genetic disorders that include chromosomal abnormalities (trisomy 21, 18, and 13) and monogenic disorders. Interrogating The Online Mendelian Inheritance in Man (OMIM) for “hand and eye defects,” at least 118 genetic conditions are highlighted. Therefore, it is important to do a full clinical examination of the child to make a correct diagnosis.

In some cases, the association of a genetic defect with environmental factors results in phenotypic abnormalities (Möbius sequence, fetal alcohol syndrome, and fetal warfarin syndrome) as well as developmental abnormalities (e.g. amniotic bands, oligohydramnios, and local vascular disruption are also associated with limb abnormalities).

With recent advances in molecular and cytogenomic techniques, such as whole exome sequencing (WES) by NGS (new generation sequencing) and chromosomal microarray analysis (CMA), it is now possible to identify genetic defects underlying these anomalies, although it is not always possible and the underlying mechanism may be unknown.