User Posts: Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Annular Lichen Planus (ALP)
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Annular lichen planus is a ring-shaped form of lichen planus, an inflammatory skin disease driven by the immune system. In this variant, small, flat-topped, ...

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Annular Epidermolytic Ichthyosis (AEI)
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Annular epidermolytic ichthyosis (AEI) is a very rare, inherited skin condition. “Annular” means ring-shaped, “epidermolytic” means the top layer of skin is ...

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Annular Epidermolytic Ichthyosis (AEI)
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Annular epidermolytic ichthyosis (AEI) is a very rare, lifelong skin condition. It is a special (variant) form of epidermolytic ichthyosis (EI)—a genetic skin ...

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Annular Atrophic Lichen Planus (AALP)
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Annular atrophic lichen planus (AALP) is a very rare skin form of lichen planus where ring-shaped (annular) patches form with a thin, sunken center (atrophy) ...

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Hay-Wells Syndrome
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Hay-Wells syndrome is a rare, inherited condition that affects tissues that come from the ectoderm—the outer layer that forms our skin, hair, nails, teeth, ...

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Ankyloblepharon Ectodermal Defects Cleft Lip/Palate (AEC) Syndrome
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Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome(Hay-Wells syndrome) is a rare genetic condition that affects parts of the body that grow ...

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Aughton-Hufnagle Syndrome
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Aughton–Hufnagle syndrome is a very rare condition present at birth. A baby has fine tissue bands that join the upper and lower eyelids (called ankyloblepharon ...

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Ankyloblepharon Filiforme Imperforate Anus Syndrome (AFIA)
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Ankyloblepharon filiforme–imperforate anus syndrome (AFIA) is an extremely rare congenital (present at birth) malformation pattern in which a newborn has thin, ...

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Ankyloblepharon Filiforme Adnatum (AFA)
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Ankyloblepharon filiforme adnatum (AFA) is a rare, congenital (present at birth) eyelid anomaly where the upper and lower eyelids are connected by one or more ...

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Ankyloblepharon Filiforme Adnatum Cleft Palate Syndrome
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Ankyloblepharon filiforme adnatum–cleft palate syndrome is a rare birth condition where a baby is born with thin strands of tissue that join the upper and ...

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Anisakiasis
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Anisakiasis is a disease caused by tiny roundworms (nematodes) that live in some raw or undercooked marine fish and squid. When a person eats fish or squid ...

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Sommer–Rathbun–Battles Syndrome
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Sommer–Rathbun–Battles syndrome is an extremely rare condition first described in 1974 in two siblings. Doctors noticed three main things together: (1) eye ...

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Aniridia–Renal Agenesis Psychomotor Retardation (ARAP) Syndrome
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Aniridia–Renal Agenesis Psychomotor Retardation (ARAP) Syndrome is an extremely rare condition reported in just two siblings in 1974. The triad included eye ...

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Aniridia–Ptosis–Intellectual Disability–Familial Obesity Syndrome
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Aniridia–ptosis–intellectual disability–familial obesity syndrome is an extremely rare, inherited disorder reported in a single family (a mother and two ...

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Gillespie Syndrome
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Gillespie syndrome is a rare genetic condition. It mainly affects the eyes and the part of the brain that controls balance and coordination (the cerebellum). ...

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Aniridia–Cerebellar Ataxia–Intellectual Disability
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Aniridia–cerebellar ataxia–intellectual disability is a very rare genetic neuro-eye syndrome. Children are usually born with partial aniridia (the colored part ...

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Aniridia–Cerebellar Ataxia–Intellectual Disability Syndrome
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Aniridia–cerebellar ataxia–intellectual disability syndrome (often called Gillespie syndrome) is a very rare genetic condition. It combines three main ...

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Aniridia-Absent Patella Syndrome
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Aniridia-absent patella syndrome is an extremely rare, inherited condition. It links two main findings: aniridia (little or no iris in the eyes) and aplasia or ...

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Anhidrotic Ectodermal Dysplasia–Immunodeficiency–Osteopetrosis–Lymphedema (OL-EDA-ID) Syndrome
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Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome is a very rare, multi-system genetic disorder caused by faulty signaling in ...

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Angiostrongyliasis (Rat Lungworm Disease)
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Angiostrongyliasis is an infection by roundworms in the genus Angiostrongylus. The most common human illness is caused by A. cantonensis (often called rat ...

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