Ophthalmo-acromelic syndrome

Overview

Type of disease: Rare conditions

Ophthalmo-acromelic syndrome is a rare genetic disorder that affects the eyes, hands, and feet. Affected individuals are usually born with eyes that are either small (microphthalmia), absent or underdeveloped (anophthalmia). Abnormalities are usually seen in both eyes (bilateral), but can sometimes be seen in only one eye (unilateral). This condition may also cause a baby to be born without fingers or toes (oligodactyly), with extra fingers or toes (polydactyly), or with fused fingers or toes (syndactyly). Additional features of this condition may include a split (cleft) in the lip or roof of the mouth (palate), abnormalities in the long bones of the arms and legs, unique facial features, and learning problems (intellectual disabilities).

Ophthalmo-acromelic syndrome is caused by a change (mutation) in the SMOC1 gene and is inherited in an autosomal recessive manner, which means a mutation in both copies of the gene a person has is needed to cause the condition. The SMOC1 gene acts as an instruction for the body to make a protein that is important for bone and eye development in the fetus.

The diagnosis of ophthalmo-acromelic syndrome is considered in a baby who is born with eye, hand and/or feet abnormalities and the diagnosis can be confirmed with genetic testing. There is not a cure for this condition, but treatment options may be available depending on the severity of the condition. If your child has been diagnosed with ophthalmo-acromelic syndrome, talk with their doctor to determine a treatment and management plan. Support groups may provide additional information.

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