User Posts: Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Argininosuccinic Aciduria (ASL Deficiency)
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Argininosuccinic aciduria is a rare, inherited metabolic disorder that makes it hard for the body to clear ammonia—the waste product that forms when we break ...

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Argentine Hemorrhagic Fever (AHF)
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Argentine hemorrhagic fever (AHF) is a serious viral illness caused by the Junín virus (a New World arenavirus). People usually get it after contact with ...

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Acrorenal Defect–Ectodermal Dysplasia–Diabetes (AREDYLD) Syndrome
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AREDYLD syndrome is an extremely rare genetic condition first described in medical journals in 1983. The name tells you the main parts: “acral” (hands and ...

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AREDYLD Syndrome
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AREDYLD stands for Acral-Renal-Ectodermal-Dysplasia-Lipoatrophic-Diabetes. It is an extremely rare genetic condition reported only in a handful of people ...

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Inflammation of the Arachnoid Mater
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Arachnoiditis means the thin middle lining around your spinal cord—the arachnoid membrane—gets inflamed. This lining normally protects the nerves and lets ...

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Chronic Arachnoiditis
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Chronic arachnoiditis means long-lasting inflammation and scarring of the arachnoid, a thin covering around the spinal cord and nerve roots. Over time, the ...

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Adhesive Arachnoiditis
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Adhesive arachnoiditis is a long-lasting inflammation and scarring problem of the arachnoid—the thin, spider-web-like layer that covers your spinal cord and ...

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Arachnoiditis
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Arachnoiditis is long-lasting inflammation of the arachnoid membrane, which is one of the thin coverings that protect the spinal cord and spinal nerves. When ...

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Arachnoid Cysts
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An arachnoid cyst is a pocket (sac) filled with clear fluid that looks and behaves like cerebrospinal fluid (CSF), the liquid that cushions the brain and ...

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De Die–Smulders–Vles–Fryns Syndrome
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De Die–Smulders–Vles–Fryns syndrome is an extremely rare congenital (present at birth) disorder first described in 1993 in two unrelated girls who shared the ...

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Arachnodactyly-Intellectual Disability-Dysmorphism Syndrome (AIDD)
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Arachnodactyly-intellectual disability-dysmorphism syndrome (AIDD) is an ultra-rare genetic condition. People with AIDD often have long, thin fingers and toes ...

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Kosztolányi Syndrome
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Kosztolányi syndrome (also called Arachnodactyly–Abnormal Ossification–Intellectual Disability syndrome) is a very rare genetic condition first described in ...

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Arachnodactyly–Abnormal Ossification–Intellectual Disability syndrome (AAOID)
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Arachnodactyly-abnormal ossification-intellectual disability syndrome is an ultra-rare, congenital (present at birth) condition. Children have very long, ...

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Transient Reactive Papulotranslucent Acrokeratoderma (TRPA)
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Transient Reactive Papulotranslucent Acrokeratoderma (TRPA)—also called aquagenic wrinkling of the palms, aquagenic syringeal acrokeratoderma, or aquagenic ...

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Aquagenic Wrinkling of the Palms
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Aquagenic wrinkling of the palms is a skin condition where the skin of your palms turns pale, swollen, and very wrinkled within a few minutes after touching ...

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Aquagenic Syringeal Acrokeratoderma (ASA)
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Aquagenic syringeal acrokeratoderma (ASA) is a rare skin condition. After a few minutes of touching water, small white, puffy, flat-topped bumps and soggy ...

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Aquagenic Keratoderma
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Aquagenic keratoderma is a rare skin condition in which the skin of the palms (and sometimes soles) becomes swollen, pale-white, and wrinkled within minutes of ...

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Aquagenic Palmoplantar Keratoderma
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Aquagenic palmoplantar keratoderma is a rare skin condition where the skin of the palms (and sometimes the soles) becomes very wrinkled, puffy, pale/white or ...

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Aprosencephaly– Cerebellar Dysgenesis (ACD)
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Aprosencephaly–cerebellar dysgenesis (ACD) is a very rare, severe brain malformation present from early pregnancy. In ACD, the baby’s forebrain ...

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Vermiform Appendix Adenocarcinoma
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Vermiform appendix adenocarcinoma is a cancer that starts in the lining cells of the appendix, a thin, finger-like pouch attached to the first part of the ...

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