User Posts: Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Anti-Glomerular Basement Membrane (anti-GBM) Disease
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Anti-Glomerular Basement Membrane (anti-GBM) Disease is a rare autoimmune illness. Your immune system makes harmful antibodies that mistakenly attack a ...

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Anterior Segment Dysgenesis Caused by CPAMD8 Mutation
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Anterior segment dysgenesis (ASD) is a group of birth-time eye problems where the front parts of the eye—the cornea, iris, lens, drainage angle, and ciliary ...

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Iridogoniodysgenesis (IGDS) Caused by PITX2 Mutation
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Iridogoniodysgenesis means the colored part of the eye (the iris) and the drainage angle inside the eye (iridocorneal angle or “gonio” region) did not develop ...

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Autosomal Dominant Iridogoniodysgenesis Caused by FOXC1 Mutation
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Autosomal dominant iridogoniodysgenesis (IGDS) is a rare, inherited eye condition where parts at the front of the eye do not develop normally before birth. The ...

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Iridogoniodysgenesis
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Iridogoniodysgenesis is a birth (congenital) condition where parts of the eye that control fluid drainage—the iris (the colored ring) and the trabecular ...

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Anterior Segment Dysgenesis (ASD) Types 3
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Anterior Segment Dysgenesis (ASD) is a group of birth-time eye conditions where the front parts of the eye (the clear window called the cornea, the colored ...

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Familial Ocular Anterior Segment Mesenchymal Dysgenesis
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Familial ocular anterior segment mesenchymal dysgenesis means a baby is born with parts at the very front of the eye (the cornea, iris, drainage angle, and ...

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Anterior Segment Ocular Dysgenesis (ASD)
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Anterior segment ocular dysgenesis is a group of birth-time (congenital) eye conditions in which the front structures of the eye—cornea, iris, lens, the ...

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Anterior Segment Mesenchymal Dysgenesis (ASD)
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Anterior segment mesenchymal dysgenesis (ASD) is a group of birth-present (congenital) conditions where the front part of the eye does not form normally in the ...

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Anterior Segment Dysgenesis
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Anterior segment dysgenesis is an umbrella term for a group of eye conditions that happen when the front part of the eye does not form normally before birth. ...

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Ischemic Optic Neuropathy (ION)
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Ischemic Optic Neuropathy (ION) means sudden vision loss because blood flow to the optic nerve is reduced or blocked. It comes in two main locations: anterior ...

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Anterior Ischemic Optic Neuropathy (AION)
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Anterior ischemic optic neuropathy (AION) is a sudden drop in vision caused by reduced blood flow to the front part of the optic nerve (the “cable” that ...

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Anterior Segment Dysgenesis (ASD)
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Anterior segment dysgenesis (ASD) is a group of birth (congenital) conditions where the front parts of the eye—the cornea, iris, lens, and the drainage ...

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Anterior Chamber Cleavage Disorder
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Anterior chamber cleavage disorder (anterior segment dysgenesis, ASD) is a group of birth conditions where the front part of the eye (the cornea, iris, lens, ...

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Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis
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Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis (also called anterior segment dysgenesis/iridocorneal ...

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Antecubital Pterygium Syndrome
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Antecubital pterygium syndrome is a rare, usually inherited condition in which a tight web of skin and fibrous tissue grows across the front of the elbow ...

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Aural Atresia
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Aural atresia means the ear canal is not open. In many babies, the ear canal did not form normally before birth (this is called congenital aural atresia). In ...

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Anotia
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Anotia means a baby is born without the outer ear (the visible ear on the side of the head). It is the most severe end of the “microtia–anotia” spectrum: ...

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Syndromic Microphthalmia Type 3 (MCOPS3)
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Syndromic microphthalmia type 3 (MCOPS3) is a rare genetic condition in which a baby is born with very small eyes (microphthalmia) or no visible eye tissue ...

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Anophthalmia/Microphthalmia–Esophageal Atresia (AEG) Syndrome
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Anophthalmia/microphthalmia–esophageal atresia (AEG) syndrome is a rare genetic condition in which a baby is born with one or both eyes missing or very small ...

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