Ophthalmo-acromelic syndrome

Common Name(s)

Ophthalmo-acromelic syndrome

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.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ophthalmo-acromelic syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ophthalmo-acromelic syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
 

Author(s): Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R Fitzpatrick

Journal: PLoS Genet.. 2011 Jul;7(7):e1002114.

 

Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ophthalmo-acromelic syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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