SNP Shot: Genomic Insights

Ophthalmo-acromelic syndrome is a congenital disorder characterized by birth defects affecting the eyes, hands, and feet. Eye abnormalities can include the absence of eyes (anophthalmia) or severely underdeveloped eyes (microphthalmia). Typically, both eyes are affected similarly. However, in cases where only one eye is small or missing, the other eye might exhibit structural defects like a coloboma (gap or split).

Hand and foot malformations are common features of ophthalmo-acromelic syndrome, frequently involving missing fingers or toes (oligodactyly). Syndactyly (fused fingers or toes) and polydactyly (extra fingers or toes) are also frequently observed. These skeletal issues, termed acromelic, affect bones located further from the body's core. Additionally, abnormalities may affect long bones in the arms and legs, or the vertebrae (spinal bones). Some individuals may present with distinct facial characteristics, cleft lip (with or without cleft palate), or intellectual disability.

Inheritance:

Ophthalmo-acromelic syndrome follows an autosomal recessive inheritance pattern. This means that an affected individual inherits a mutated copy of the responsible gene from each parent. While each parent carries one copy of the mutated gene, they usually do not exhibit any symptoms of the syndrome themselves.