... retina), and progressive vision loss. Some have a gap or split in the colored part of the eye (iris coloboma).In almost all people with Donnai-Barrow syndrome, the tissue connecting the left and right halves ...

... eye may have a defect such as a gap or split in its structures (coloboma).The most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). Other frequent ...

... 481. Citation on PubMed Nickel R, Forge A. Gap junctions and connexins in ... syndrome: insights into syndromic hearing loss. Front Cell Neurosci. ...

... carinatum). They may have protrusion of organs through gaps in muscles (hernias), elongation of the intestines, or pouches called diverticula in the intestinal walls.People with arterial tortuosity syndrome often look older than their age and have ...

... the characteristic signs and symptoms of cat-eye syndrome, including an eye abnormality called an iris coloboma (a gap or split in the colored part of the ...

... small or poorly developed eyes (microphthalmia) or a gap or hole (coloboma) ... with Aicardi syndrome have unusual facial features including a short area ...

... lead to dislocations, and protrusion of organs through gaps in muscles (hernias). ... syndrome typically have a particular pattern of facial features ...

... unusually small eyeballs (microphthalmia), no eyeballs (anophthalmia), a gap or split in ... syndrome. Many affected individuals have a split in the ...

... have other distinctive features, including larger than normal gaps between the ... often have excessive hairiness (hypertrichosis) that usually disappears ...

... the medical literature. The classic form of Vohwinkel syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin ...