Ophthalmo-Acromelic Syndrome

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Rita Xu	+ 493 word(s)	493	2020-12-15 07:33:49

Cite

If you have any further questions, please contact Encyclopedia Editorial Office.

Select a Style

Xu, R. Ophthalmo-Acromelic Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4767 (accessed on 28 September 2026).

Xu R. Ophthalmo-Acromelic Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4767. Accessed September 28, 2026.

Xu, Rita. "Ophthalmo-Acromelic Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4767 (accessed September 28, 2026).

Xu, R. (2020, December 24). Ophthalmo-Acromelic Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4767

Xu, Rita. "Ophthalmo-Acromelic Syndrome." Encyclopedia. Web. 24 December, 2020.

Ophthalmo-Acromelic Syndrome

Edit

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-syndrome

Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma).

genetic conditions

References

Abouzeid H, Boisset G, Favez T, Youssef M, Marzouk I, Shakankiry N, Bayoumi N,Descombes P, Agosti C, Munier FL, Schorderet DF. Mutations in the SPARC-relatedmodular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmiasyndrome. Am J Hum Genet. 2011 Jan 7;88(1):92-8. doi: 10.1016/j.ajhg.2010.12.002.
Gambhir PS, Gambhir SP, Bankar SM. Ophthalmoacromelic syndrome: two furthercases expanding the phenotype. Clin Dysmorphol. 2010 Apr;19(2):91-4. doi:10.1097/MCD.0b013e328336a1a6.
Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, NishiyamaK, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T,Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H.SMOC1 is essential for ocular and limb development in humans and mice. Am J HumGenet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012.
Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R,Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P,Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L,Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, BrunnerHG, Wieczorek D, van Bokhoven H, Fitzpatrick DR. Loss of the BMP antagonist,SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet. 2011 Jul;7(7):e1002114. doi: 10.1371/journal.pgen.1002114.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

Subjects: Genetics & Heredity

Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu

View Times: 806

Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

Video Upload Options

References