Rx Autoimmune, Genetic and Rare Diseases (A – Z) – Page 165

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Rx Autoimmune, Genetic and Rare Diseases (A – Z)

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Ankyloblepharon-Ectodermal Dysplasia-cleft Lip/Palate (AEC) Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome, which is also known as Hay-Wells syndrome, ankyloblepharon-ectodermal defects-cleft lip/palate, ankyloblepharon-ectodermal ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

What Is Adult-onset Still’s disease (AOSD)?

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Adult-onset Still’s disease (AOSD) is a rare inflammatory disorder that can affect the entire body (systemic disease). The cause of the disorder is unknown (idiopathic). Affected individuals may ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Adult-onset Leukoencephalopathy Axonal Spheroids and Pigmented glia (ALSP)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) also known as hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Adult Polyglucosan Body Disease (APBD)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Adult polyglucosan body disease (APBD) is a rare, genetic disorder characterized by a deficiency of the glycogen-branching enzyme, progressive pyramidal paraparesis, and distal sensory deficit in ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Adult Neuronal Ceroid Lipofuscinosis

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Adult neuronal ceroid lipofuscinosis (ANCL) is a general term for several rare genetic disorders that belong to a group of progressive, degenerative neurometabolic disorders known as the neuronal ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

ADNP Syndrome, Helsmoortel-Van Der Aa Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

ADNP syndrome, also known as Helsmoortel-Van Der Aa syndrome, is a neurodevelopmental genetic disorder caused by changes (mutations) in the ADNP gene. These mutations occur spontaneously in the ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Adie Syndrome, Holmes-Adie Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Adie syndrome, or Holmes-Adie syndrome, is a rare neurological disorder affecting the pupil of the eye. In most patients, the pupil is larger than normal (dilated) and slow to react in response ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Adenylosuccinate Lyase Deficiency

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Adenylosuccinate lyase deficiency is an inherited metabolic disorder that is characterized by three categories (fatal neonatal form, type I, and type II), each of which has a specific age of ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

ADCY5-Related Dyskinesia

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

ADCY5-related dyskinesia is a neurologic disorder with a variety of movement abnormalities. Dyskinesia means that affected individuals have trouble controlling voluntary movements. Voluntary ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Adams-Oliver Syndrome (AOS)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Adams-Oliver syndrome (AOS) is a rare inherited condition present at birth that involves changes to the limbs and scalp. Symptoms may include areas of missing skin on the scalp, limb ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Acute Promyelocytic Leukemia (APL)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Acute promyelocytic leukemia (APL) is a blood cancer characterized by a marked increase in a type of white blood cells known as promyelocytes, a type of immature white blood cell. It develops in ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Acute Intermittent Porphyria (AIP)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by partial deficiency of the enzyme hydroxymethylbilane synthase (also known as porphobilinogen deaminase). ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Acute Eosinophilic Pneumonia (AEP)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Acute eosinophilic pneumonia (AEP) is a rare disorder characterized by the rapid accumulation of eosinophils in the lungs (pulmonary eosinophilia). Eosinophils are a type of white blood cell and ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Acute Disseminated Encephalomyelitis

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Acute disseminated encephalomyelitis (ADEM) is a neurological, immune-mediated disorder in which widespread inflammation of the brain and spinal cord damages tissue known as white matter. White ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

ACTH Deficiency Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

ACTH deficiency arises as a result of decreased or absent production of adrenocorticotropic hormone (ACTH) by the pituitary gland. A decline in the concentration of ACTH in the blood leads to a ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Acromicric Dysplasia

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Acromicric Dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features and an extremely rare inherited disorder characterized by ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Acromesomelic Dysplasia

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Acromesomelic dysplasia is an extremely rare, inherited, progressive skeletal disorder that results in a particular form of short stature known as short-limb dwarfism. The disorder is ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Acrodysostosis

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Acrodysostosis is a rare genetic disorder characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused, in part, by underdeveloped (hypoplastic) ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Acrodermatitis Enteropathica

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism caused by a defect in the absorption of zinc, that occurs in one of three forms: an inborn (congenital) form and two acquired ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Acrocallosal Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Acrocallosal syndrome, Schinzel type is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings may be variable, including among affected members of the ...