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Congenital anomaly of eye
- ... hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and ... the lining of the eye (retinal detachment). These eye abnormalities cause impaired vision or blindness in some cases. ...
- ... is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.Although the ... eye (cataracts) from birth or early childhood. Other eye abnormalities that have been associated with this disorder include ...
- ... condition characterized by kidney disease, hearing loss, and eye abnormalities.People with Alport syndrome experience progressive loss of ... tissue at the back of the eye. These eye abnormalities seldom lead to vision loss. Alport syndrome occurs ...
- Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the ... vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye ( ...
- ... Some individuals with Walker-Warburg syndrome experience seizures.Eye abnormalities are also characteristic of Walker-Warburg syndrome. These ... agyria, and retinal dysplasia MDDGA Muscular dystrophy-dystroglycanopathy ... anomalies), type A Muscular dystrophy-dystroglycanopathy [with brain and ...
- Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.Gillespie syndrome is ...
- ... by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with ... normal retinal development, leading to the bone and eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome. LRP5 Osteoporosis-pseudoglioma ...
- Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear ... loss.People with coloboma may also have other eye abnormalities, including clouding of the lens of the eye ( ...
- ... is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft ... Kivlin syndrome Krause-van Schooneveld-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome ... Epub 2012 Nov 13. Citation on PubMed
- ... affect chloride ion transport or lead to the eye abnormalities characteristic of ADVIRC. Researchers suspect that the abnormalities ... gene have been found in individuals who have eye abnormalities such as increased pressure in the eyes (glaucoma); ...
