Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Acromesomelic Dysplasia (AMD)
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Acromesomelic dysplasia (AMD) is a very rare, inherited bone growth disorder. It causes short height and short limbs. The middle parts of the limbs (forearms ...

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Acromesomelic Dwarfism
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Acromesomelic dwarfism is a group of rare genetic bone growth conditions where the middle parts of the arms and legs (forearms and lower legs) and the ends of ...

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Fibular Hypoplasia and Complex Brachydactyly
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Fibular hypoplasia and complex brachydactyly is a very rare, inherited bone-growth disorder. Babies are born with an under-developed fibula (the long “outer” ...

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Du Pan Syndrome
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Du Pan syndrome is a very rare genetic condition that mainly affects how the bones of the limbs grow. The lower legs, hands, and feet are the most affected. A ...

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Langer–Saldino Achondrogenesis (Achondrogenesis Type II)
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Langer–Saldino achondrogenesis is a very rare and very severe bone growth disorder in babies. Doctors also call it achondrogenesis type II. It happens because ...

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Grebe Chondrodysplasia
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Grebe chondrodysplasia is a very rare genetic bone and cartilage growth disorder. It mainly affects the arms and legs. The bones of the hands and feet are the ...

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Maroteaux Type Dysplasia
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Maroteaux type dysplasia (AMDM) is a genetic bone growth condition where the long bones do not lengthen normally at their growth plates. The most affected ...

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Acromesomelic Dysplasia (AMD)
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Acromesomelic dysplasia is a very rare genetic bone growth condition. It mainly makes the middle parts of the arms and legs (the forearms and lower legs) and ...

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Toriello–Carey Syndrome
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Toriello–Carey syndrome is a rare condition present from birth. It affects many parts of the body. Most children have a small lower jaw and a cleft palate ...

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Acromelic Frontonasal Dysostosis (AFND)
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Acromelic frontonasal dysostosis (AFND) is a very rare genetic condition. It affects the face (especially the middle of the face and nose), the brain in some ...

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Acromelanosis
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Acromelanosis is a rare skin condition. It causes extra brown or dark-gray color (pigment) on the skin of the fingers and toes. Doctors say “acral” for the far ...

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Acromegaly
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Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged ...

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Acromegaloid Facial Appearance (AFA) Syndrome
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Acromegaloid facial appearance (AFA) syndrome is a very rare, congenital (present from birth) pattern of facial and body features. The face looks ...

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Hopf Disease
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Hopf disease” refers to Acrokeratosis verruciformis of Hopf (AKV)—a rare, inherited skin disorder first described by Dr. Gustav Hopf in 1931. In plain English, ...

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Acrokeratosis Verruciformis
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Acrokeratosis verruciformis (often called acrokeratosis verruciformis of Hopf) is a rare, inherited skin disease. It causes many small, rough, flat-topped ...

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Gottron Syndrome
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Gottron syndrome is a very rare condition present from birth or early childhood. Doctors also call it acrogeria, Gottron type. “Acro-” means the hands and ...

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Acrometageria
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Acrometageria is a very rare condition that makes the skin and soft tissues—mainly on the hands, feet, and face—look older than they should. The skin becomes ...

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Acrogeria
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Acrogeria is a very rare skin condition. It makes the skin on the hands and feet look old very early in life. The skin becomes very thin. The veins show ...

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Naguib–Richieri–Costa Syndrome
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Naguib–Richieri–Costa syndrome is an extremely rare genetic birth condition. Babies are born with a group of changes that affect the face and skull, the ...

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Hypertelorism–Hypospadias–Polysyndactyly Syndrome (HHPS)
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Hypertelorism–hypospadias–polysyndactyly syndrome is a very rare condition present from birth. It affects how the face, hands/feet, and genitals form in the ...

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