Rx Autoimmune, Genetic and Rare Diseases (A – Z) – Page 27

Asphyxiating thoracic dystrophy (ATD) is a very rare form of skeletal dysplasia that primarily affects the development of the bone structure of the chest (thorax) resulting in a very narrow and ...

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

Allergic Bronchopulmonary Aspergillosis

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

Allergic bronchopulmonary aspergillosis (ABPA) is a common fungal infection in uncontrolled asthmatics, cystic fibrosis patients, and immunocompromised patients. Early diagnosis and rapid ...

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

Aspergilloma

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

An aspergilloma is a fungus ball or mycetoma composed of Aspergillus hyphae along with cellular debris and mucus. It is a noninvasive type of chronic pulmonary aspergillosis. Aspergillus species ...

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Aspergillus Infection

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

Aspergillus is a ubiquitous saprophyte in nature found in air, soil, and organic matter. Humans normally inhale the spore form of the fungi. However, the disease is usually seen in ...

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Aspergillosis

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

Aspergillosis is a fungal infection caused by Aspergillus, a species of mold that is found all over the world and occurs in the form of chronic pulmonary aspergillosis (CPA), aspergilloma, or ...

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Aspartylglycosaminuria

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

Aspartylglycosaminuria is a very rare genetic disorder that is concentrated among persons of Finnish descent but is also found, even more rarely, in other populations around the world. It is an ...

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Asherson’s Syndrome

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

Asherson’s syndrome is an extremely rare autoimmune disorder characterized by the development, over hours, days, or weeks, of rapidly progressive blood clots affecting multiple organ systems of the ...

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

Asherman’s Syndrome

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

Asherman’s syndrome is a rare, acquired, gynecological disorder of the uterus(intrauterine adhesions or intrauterine synechiae) that occurs when scar tissue forms inside the uterus and/or the ...

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ASAH1- Related Disorders

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

ASAH1-related disorders are an extremely rare group of disorders caused by an alteration (mutation) in the ASAH1 gene. Alterations in this gene result in a deficiency of the enzyme acid ceramidase. ...

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Distal Arthrogryposis, Pterygium Syndrome

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

Arthrogryposis is also known as distal arthrogryposis, pterygium syndrome is a general or descriptive term for the development of nonprogressive contractures affecting one or more areas of the body ...

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Arthrogryposis

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

Arthrogryposis is also known as distal arthrogryposis, pterygium syndrome is a general or descriptive term for the development of nonprogressive contractures affecting one or more areas of the body ...

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Martorell Syndrome

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

Takayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive inflammation and damage of one or more of ...

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Occlusive Thromboaortopathy

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

Takayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive inflammation and damage of one or more of ...

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

Pulseless Disease

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

Takayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive inflammation and damage of one or more of ...

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

Takayasu Arteritis

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

Takayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive inflammation and damage of one or more of ...

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

Arteriovenous Malformation

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

Arteriovenous malformation (AVM) is a vascular lesion that is a tangle of vessels of varying sizes in which there is one or more direct connections between the arterial and venous circulations. In ...

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Arterial Tortuosity Syndrome

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

Arterial tortuosity syndrome (ATS) is an extremely rare genetic congenital connective tissue disorder characterized by lengthening (elongation) and twisting or distortion (tortuosity) of major ...

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Aromatic L-amino Acid Decarboxylase (AADC) Deficiency

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

Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare genetic autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, ...

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Argininosuccinic Aciduria

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

Argininosuccinic aciduria is a rare genetic disorder characterized by the deficiency or lack of the enzyme argininosuccinate lyase (ASL). This enzyme is one of six enzymes that play a role in the ...

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Glycine Amidinotransferase Deficiency

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

Glycine amidinotransferase deficiency (AGAT) is one of the three cerebral creatine deficiency syndromes (CCDS). These conditions are inborn errors of creatine metabolism which interrupt the ...

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

Arginase-1 Deficiency

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

Arginase-1 deficiency is a rare inherited autosomal recessive disorder causing hyperammonemia secondary to arginine accumulation characterized by a complete or partial lack of the enzyme arginase ...

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Arachnoid Cysts

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

Arachnoid cysts are fluid-filled sacs that occur on the arachnoid membrane that covers the brain (intracranial) and the spinal cord (spinal) majority of arachnoid cysts are in the anterior/middle ...

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Apraxia

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

Apraxia is a neurological disorder as a non-motor abnormality characterized by the patient's difficulty in eyelid elevation bilaterally inability of voluntary eye reopening without an orbicularis ...

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Appendiceal Cancer and Tumors

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

Cancers and tumors (neoplasms) of the appendix are extremely rare groups of tumors and they most typically present either as appendicitis, a hernia filled with mucin, increasing abdominal girth, ...

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Infantile Apnea

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

Infantile apnea is a rare disease that is characterized by cessation of breathing in an infant for at least 20 seconds or a shorter respiratory pause that is associated with a slow heart rate, ...

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

Aplasia Cutis Congenita

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

Aplasia Cutis Congenita is a rare disorder with a complicated pattern of inheritance congenital skin defect characterized by a focal or extensive absence of the epidermis, dermis, and occasionally ...

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Apert Syndrome

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

Apert syndrome is a rare autosomal dominant inherited craniosynostosis genetic condition that is apparent at birth through the premature fusion of coronal sutures resulting in the skull and facial ...

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

AP-4-Associated Hereditary Spastic Paraplegia

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

AP-4-associated hereditary spastic paraplegia (AP-4-HSP) is a group of slowly-progressing neurodegenerative disorders that generally present with global developmental delay, moderate to severe ...

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Antley-Bixler Syndrome

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

Antley-Bixler syndrome is a rare genetic disorder that can cause structural changes to the skull, bones of the face, and other skeletal abnormalities. It is a rare, distinct craniosynostosis ...

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

Antithrombin Deficiency

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

Antithrombin deficiency is a blood disorder characterized by the tendency to form clots in the veins (thrombosis). An inherited tendency to thrombosis is known as thrombophilia. Antithrombin is a ...

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Antisynthetase Syndrome

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

Antisynthetase syndrome is a rare, chronic, autoimmune disorder characterized by Interstitial Lung Disease (ILD), inflammatory myositis, fever, Raynaud’s phenomenon, mechanic’s hand, and ...

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Antiphospholipid Syndrome (APS)

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

Antiphospholipid syndrome (APS) is a rare autoimmune multisystemic disorder characterized by the presence of antiphospholipid antibodies in the setting of thrombosis and/or pregnancy loss and the ...

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Gillespie Syndrome

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

Gillespie syndrome, also known as Aniridia, cerebellar ataxia, and mental deficiency, is an extremely rare inherited disorder that is characterized by the absence, in whole (aniridia) or part ...

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Aniridia Cerebellar Ataxia Mental Deficiency

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

Aniridia, cerebellar ataxia, and mental deficiency, also known as Gillespie syndrome, is an extremely rare inherited disorder that is characterized by the absence, in whole (aniridia) or part ...

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Aniridia

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

Aniridia is a rare condition characterized by a progressive fibrotic membrane within the anterior chamber that occurs after ocular surgery or by abnormal development of the iris of the eye. The ...

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Angioimmunoblastic T-cell lymphoma (AITL)

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

Angioimmunoblastic T-cell lymphoma (AITL, sometimes misspelled AILT, formerly known as angioimmunoblastic lymphadenopathy with dysproteinemia ) is a rare form of non-Hodgkin lymphoma, which is a ...

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

Angelman Syndrome

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

Angelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities; absence or near absence of speech; inability to coordinate ...

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

Neural Tube Defects

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

Neural tube defects are the most common severe central nervous system anomalies, only second to cardiovascular abnormalities resulting in congenital morbidity and mortality. The nervous system is ...

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

Anencephaly

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

Anencephaly is a term that refers to the incomplete development of the brain, skull, and scalp and is part of a group of birth defects called neural tube defects (NTD)where a sac containing ...

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Intrinsic Factor

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

The intrinsic factor (IF) is a glycoprotein produced by the parietal cells (oxyntic cells) located at the gastric body and fundus. Intrinsic factor plays a crucial role in the transportation and ...

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Pernicious Anemia

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

Pernicious anemia is a rare blood disorder characterized by the inability of the body to properly utilize vitamin B12, from a deficiency of cobalamin (vitamin B12), which in turn is caused by a ...

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Myelophthisic Anemia

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

Myelophthisic anemia is anemia characterized by the presence of immature erythrocytes in the peripheral blood due to the infiltration (crowding out) of the bone marrow by abnormal tissue. It is a ...

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

Megaloblastic Anemia

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

Megaloblastic anemia is a heterogeneous group of macrocytic anemias characterized by the presence of large red blood cell precursors called megaloblasts in the bone marrow. which the bone marrow ...

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

Autoimmune Hemolytic Anemia

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

Autoimmune hemolytic anemia is a rare disorder characterized by the premature destruction (hemolysis) of red blood cells at a rate faster than they can be replaced. Acquired hemolytic anemias are ...

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Sickle Cell Anemia

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

Sickle cell anemia is an inherited disorder of the globin chains that causes hemolysis and chronic organ damage. This activity reviews the pathophysiology, presentation, complications, diagnosis, ...

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Chronic Anemia

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

Chronic anemia also called the anemia of inflammation, is a condition that can be associated with many different underlying disorders including chronic illnesses such as cancer, certain ...

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Anemia of Chronic Disease

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

Anemia of chronic disease, also called the anemia of inflammation, is a condition that can be associated with many different underlying disorders including chronic illnesses such as cancer, ...

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Andersen-Tawil Syndrome

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

Andersen-Tawil syndrome is sometimes referred to as long QT syndrome 7 because some individuals in early reports of the disorder had a prolonged QT interval, which is measured on an ...

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Glycogen Storage Disease (GSD)

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

Glycogen Storage Disease (GSD) belongs to a group of rare genetic hereditary metabolic disorders of glycogen metabolism, known as glycogen storage diseases is characterized by a triad of episodic ...

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Andersen Disease

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

Andersen disease belongs to a group of rare genetic hereditary metabolic disorders of glycogen metabolism, known as glycogen storage diseases is characterized by a triad of episodic flaccid ...

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Anaplastic Astrocytoma

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

Anaplastic astrocytoma is a rare malignant brain tumor. Astrocytomas are tumors that develop from certain star-shaped brain cells called astrocytes. Astrocytes and similar cells form tissue that ...

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Amyotrophic Lateral Sclerosis (ALS)

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

Amyotrophic lateral sclerosis (ALS) also known as “Lou Gehrig disease, is a neurodegenerative disorder of the motor neurons characterized by the progressive degeneration and eventual death of ...

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Amyloidosis

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

Amyloidosis is a rare heterogeneous acquired or hereditary systemic group of disorders caused by a build-up of an abnormal protein called amyloid in organs and tissues throughout the body. The ...

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Amniotic Fluid Embolism (AFE)

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

Amniotic fluid embolism (AFE) is an extremely rare, but life-threatening obstetric emergency characterized by sudden cardiorespiratory collapse and disseminated intravascular coagulation followed ...

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Amniotic Band Syndrome

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

Amniotic band syndrome is a well-known condition potentially associated with a variety of different birth defects that comprises various congenital anomalies, which include disruption, ...

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Amelogenesis Imperfecta

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

Amelogenesis imperfecta (AI) refers to a group of rare, inherited disorders characterized by abnormal incomplete enamel formation or calcification of the enamel and characterized by loss of ...

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Alveolar Capillary Dysplasia

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

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV, OMIM# 265380) is a rare disorder present at birth (congenital). Infants experience severe, life-threatening ...

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Alternating Hemiplegia of Childhood (AHC)

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

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental transient episode of hemiplegia alternating in the laterality or quadriparesis, nystagmus, and other paroxysmal attacks ...

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Alström Syndrome

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

Alström syndrome is a rare complex genetic disorder that is associated with a wide variety of symptoms affecting multiple organ systems of the body. The disorder is generally characterized by ...

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Alport Syndrome

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

Alport syndrome is a rare genetic also known as hereditary nephritis is a genetic disorder arising from the mutations in the genes encoding alpha-3, alpha-4, and alpha-5 of type 4 collagen ...

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Alpha-Mannosidosis

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

Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of diseases that is generally ...

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Alpha-1 Antitrypsin Deficiency (A1AD)

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

Alpha-1 antitrypsin deficiency (A1AD) is a clinically under-recognized hereditary genetic disorder that causes the defective production of alpha-1 antitrypsin protein and AAT protein protects the ...

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Alpha Thalassemia X-linked Intellectual Disability (ATR-X) Syndrome

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

Alpha thalassemia X-linked intellectual disability (ATR-X) syndrome is a rare genetic disorder affecting multiple organ systems of the body. ATR-X syndrome is characterized by intellectual ...

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Alpha Thalassemia

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

Alpha thalassemia is a general term for a group of inherited blood disorders characterized by reduced or absent production of alpha-globin subunits, resulting in low levels of hemoglobin that is ...

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Alpers Disease

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

Alpers disease is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease associated with mutations in the mitochondrial DNA ...

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Alopecia areata

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

Alopecia areata is a form of alopecia that impacts hair follicles, nails, and rarely, the retinal pigment epithelium and typically presents with round patches and is a type of non-scarring hair ...

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Alexander Disease

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

Alexander disease is an extremely rare, autosomal dominant leukodystrophy, which is a neurological condition caused by anomalies in the myelin which protects nerve fibers in the brain with ...

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Alagille Syndrome (ALGS)

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

Alagille syndrome (ALGS) also known as arteriohepatic dysplasia is a rare genetic multisystem disease characterized by cholestasis and bile duct paucity on liver biopsy in addition to variable ...

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ALAD Porphyria

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

ALAD porphyria is a very rare genetic metabolic disease characterized by an almost complete deficiency of the enzyme delta-aminolevulinic acid (ALA) dehydratase. The deficiency of this enzyme ...

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AIDS Dysmorphic Syndrome

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

The term “AIDS dysmorphic syndrome” or “HIV embryopathy” has been used by some researchers to describe specific facial malformations (i.e., craniofacial dysmorphism), an unusually small head, and ...

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Aicardi Syndrome

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

Aicardi syndrome is also known as agenesis of the corpus callosum with chorioretinitis abnormality, agenesis of the corpus callosum with infantile spasms and ocular anomalies, callosal agenesis, ...

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Ahumada-Del Castillo Syndrome

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

Ahumada-Del Castillo is a rare endocrine disorder affecting adult females, which is characterized by impairment in the function of the pituitary and hypothalamus glands. Symptoms may include the ...

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Acquired Agranulocytosis

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

Acquired agranulocytosis is rare, also known as agranulosis or granulopenia, a drug-induced blood disorder that is characterized by a severe reduction in the number of white blood cells ...

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Agenesis of Corpus Callosum (ACC)

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

Agenesis of corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum that is present at birth (congenital). It occurs when the ...

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Agammaglobulinemia

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

An agammaglobulinemia is a group of inherited immune deficiencies characterized by a low concentration of antibodies in the blood due to the lack of particular lymphocytes in the blood and lymph. ...

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African Iron Overload Disease

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

African iron overload also known as Bantu siderosis or dietary iron overload is a rare disorder characterized by abnormally elevated levels of iron in the body. The name originates from the ...

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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 ...

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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 ...

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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 ...

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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 ...

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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 ...

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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 ...

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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 ...

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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 ...

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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 ...

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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 ...

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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 ...

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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). ...

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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 ...

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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 ...

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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 ...

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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 ...

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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 ...

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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) ...

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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 ...

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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 ...

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Acquired Neuromyotonia

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

Acquired neuromyotonia is an inflammatory disorder characterized by abnormal nerve impulses from the peripheral nerves that result in continuous muscle fiber activity spontaneous and continuous ...

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Lipodystrophy Syndromes

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

Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. The medical condition is characterized by abnormal or ...

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Lipodystrophies

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

Lipodystrophies are conditions that share the common finding of a reduction in subcutaneous fat. There are multiple subtypes of lipodystrophy, which may be either congenital or acquired and vary ...

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Acquired Lipodystrophy

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

Acquired lipodystrophy is a general term for types of lipodystrophy that are not inherited, but rather acquired at some point during life. Acquired lipodystrophies do not have a direct genetic cause, ...

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Acquired Hemophilia

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

Acquired hemophilia (AH) is a rare autoimmune disorder characterized by bleeding that occurs in patients with no personal or family history of diseases related to clotting/coagulation. Autoimmune ...

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Acquired Aplastic Anemia

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

Acquired aplastic anemia is a rare, serious blood disorder, due to the failure of the bone marrow fails to produce blood cells. Bone marrow is the spongy substance found in the center of the ...

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Acoustic Neuroma

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

An acoustic neuroma is a type of non-cancerous (benign) brain tumor. It's also known as a vestibular schwannoma. A benign brain tumor is a growth in the brain that usually grows slowly over many ...

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Acidemia, Methylmalonic

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

The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine, and valine). This results in an ...

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Acid Sphingomyelinase Deficiency (ASMD)

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

Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down (metabolize) a ...

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Achondroplasia

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

Achondroplasia is the most commonly occurring abnormality of bone growth (skeletal dysplasia), occurring in approximately 1 in 20,000-30,000 live births. This genetic disorder is caused by a ...

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Achondrogenesis

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

Achondrogenesis is a group of severe disorders that affect the cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. ...

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Acanthosis Nigricans

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

Acanthosis nigricans (AN) is a skin condition characterized by abnormally increased coloration (hyperpigmentation) and “velvety” thickening (hyperkeratosis) of the skin, particularly of skin fold ...

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Dipetalonemiasis

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

Dipetalonemiasis/Acanthocheilonemiasis is a rare tropical infectious disease caused by a parasite known as Acanthocheilonema perstans, which belongs to a group of parasitic diseases known as ...

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Ablepharon Macrostomia Syndrome (AMS)

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

Ablepharon-macrostomia syndrome (AMS) is a rare genetic disorder characterized by absent or underdeveloped eyelids (ablepharon or microblepharon) and a wide mouth (macrostomia). Characteristics ...

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Klinefelter Syndrome (47, XXY)

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

Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47, XXY karyotype. The extra X chromosome typically affects physical, ...

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Ulnar Mammary Syndrome

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

Ulnar mammary syndrome is a rare inherited disorder characterized by abnormalities of the bones of the hands and forearms in association with underdevelopment (hypoplasia) and dysfunction of ...