Macroglossia Syndrome
Macroglossia syndrome, often referred to as "enlarged tongue," is a medical condition characterized by an unusually large tongue. This condition can have various causes and can lead to a range of ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Visceromegaly-Macroglossia Syndrome
Visceromegaly-Macroglossia Syndrome, often referred to as VMGS, is a rare medical condition that affects various parts of the body. In this article, we will break down VMGS into simpler terms, making ...
Omphalocele-Visceromegaly-Macroglossia Syndrome
Omphalocele-Visceromegaly-Macroglossia Syndrome (OVM Syndrome) is a rare genetic condition that can affect infants and children. In this article, we will provide a clear and straightforward ...
Hypoglycemia with Macroglossia
Hypoglycemia with macroglossia is a medical condition characterized by low blood sugar levels (hypoglycemia) and an enlarged tongue (macroglossia). In this article, we will explain this condition in ...
Exomphalos-Macroglossia-Gigantism Syndrome
Exomphalos-Macroglossia-Gigantism Syndrome, also known as EMG syndrome, is a rare genetic disorder that affects various parts of the body. In this article, we'll break down what this syndrome is, its ...
EMG Syndrome
EMG syndrome, or Eosinophilia-Myalgia Syndrome, is a rare medical condition that can affect people of any age. In this article, we'll break down EMG syndrome into simple terms, providing definitions, ...
Beckwith-Wiedemann Spectrum
Beckwith-Wiedemann Spectrum (BWS) is a rare genetic disorder that affects various parts of the body, leading to a wide range of symptoms and complications. Beckwith-Wiedemann syndrome (BWS) is the ...
Beckwith-Syndrome
Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that affects children from birth. It can cause various physical and medical issues. Beckwith-Wiedemann syndrome (BWS) is the most common ...
Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that can affect various parts of the body. Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth and cancer predisposition ...
What Is Bartter Syndrome
Bartter Syndrome is a rare genetic disorder that affects the kidneys and can lead to a range of health problems. In this article, we will provide simple, plain English explanations for various ...
Cat Scratch Disease
Cat Scratch Disease (CSD) is a relatively common infection caused by a bacterium called Bartonella henselae. It is primarily transmitted through scratches or bites from infected cats, but it can also ...
What Is Carrion’s Disease
Carrion's disease, also known as Oroya fever or Bartonellosis, is a rare but serious infectious disease caused by the bacteria Bartonella bacilliformis. This article will provide you with a simple ...
What Is Bartonellosis
Bartonellosis is a group of infectious diseases caused by bacteria called Bartonella. These bacteria can affect various parts of the body and lead to a range of symptoms.Bartonellosis is a group ...
3-Methylglutaconic Aciduria, Type II
3-Methylglutaconic aciduria, Type II, is a rare metabolic disorder that affects the body's ability to process certain fats and proteins. In this article, we will break down this complex condition ...
X-Linked Cardioskeletal Myopathy and Neutropenia
X-Linked Cardioskeletal Myopathy and Neutropenia, often abbreviated as XL-CNM, is a rare genetic disorder that affects multiple systems in the body, including the heart, muscles, and immune system. ...
X-Linked Endocardial Fibroelastosis (XLEF)
X-Linked Endocardial Fibroelastosis (XLEF) is a rare heart condition that primarily affects infants and young children. It is important to understand the causes, symptoms, diagnosis, and treatment ...
What Is Barth Syndrome
Barth Syndrome is a rare genetic condition that affects a person's health in various ways. In this article, we'll break down everything you need to know about Barth Syndrome, using simple language to ...
Bardet-Biedl Syndrome (BBS)
Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects various parts of the body, causing a wide range of health problems. In this article, we will explain BBS in simple language, ...
What is Barakat Syndrome
Barakat Syndrome is a rare genetic disorder that affects multiple systems in the body. Barakat syndrome, also known as HDR syndrome is a clinically variable (heterogeneous), rare genetic disorder ...
Budd-Chiari Syndrome
Budd-Chiari Syndrome (BCS) is a rare but serious liver condition that affects the blood vessels in the liver. In this article, we'll break down BCS in simple terms, covering its types, causes, ...
Idiopathic Congestive Splenomegaly (ICS)
Idiopathic Congestive Splenomegaly (ICS) may sound complex, but we'll break it down into simple terms. In this article, we'll explain the types, causes, symptoms, diagnostic tests, treatments, and ...
Hypersplenism
Hypersplenism is a medical condition that occurs when the spleen becomes overactive and starts removing blood components, such as red and white blood cells and platelets, from the bloodstream too ...
Banti’s Syndrome
Banti's Syndrome is a rare medical condition that primarily affects the spleen and liver. It's characterized by an enlargement of these organs, leading to various symptoms and complications. While ...
Ruvalcaba-Myhre-Smith Syndrome
Ruvalcaba-Myhre-Smith Syndrome is a rare genetic disorder that affects individuals from birth. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a ...
Bannayan-Zonana Syndrome
BRRS was previously described as three separate conditions: Riley-Smith syndrome, Bannayan-Zonana syndrome and Ruvalcaba-Myhre-Smith syndrome. BRRS is now known to be a component of PTEN hamartoma ...
Ruvalcaba Syndrome
Ruvalcaba Syndrome (BRRS) is a rare genetic disorder that can affect various aspects of a person's health and development. In this article, we will provide simple, easy-to-understand explanations of ...
Riley-Ruvalcaba Syndrome
Riley-Ruvalcaba Syndrome (BRRS) is a rare genetic disorder that can affect various aspects of a person's health and development. In this article, we will provide simple, easy-to-understand ...
What Is Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome (BRRS) is a rare genetic disorder that can affect various aspects of a person's health and development. In this article, we will provide simple, easy-to-understand ...
Leukoencephalitis Periaxialis Concentric (LPC)
Leukoencephalitis Periaxialis Concentric (LPC) may sound complicated, but in this article, we'll break it down into simple terms. We'll explain what LPC is, its types, what causes it, common ...
Encephalitis Periaxialis Concentrica (EPC)
Encephalitis Periaxialis Concentrica (EPC) is a rare neurological condition that affects the brain's white matter. In this article, we'll break down the types, causes, symptoms, diagnostic tests, ...
Concentric Sclerosis
Concentric sclerosis, also known as Balo's disease, is a rare neurological disorder that affects the central nervous system. In this article, we will provide simple, easy-to-understand explanations ...
What Is Balo Disease
Balo Disease, also known as Balo's Concentric Sclerosis or Baló-like Concentric Sclerosis, is a rare neurological disorder that affects the central nervous system. This article aims to provide simple ...
Ciliary Dysentery
Ciliary dysentery, also known as primary ciliary dyskinesia (PCD), is a rare genetic disorder that affects the function of tiny hair-like structures called cilia. Cilia are found in various parts of ...
Balantidosis
Balantidosis is a rare but potentially serious illness caused by a parasite called Balantidium coli. This microscopic parasite can infect the digestive system of humans, leading to a range of ...
What Is Balantidiasis
Balantidiasis is a parasitic infection caused by a microscopic organism called Balantidium coli. This article will provide you with simple, easy-to-understand information about balantidiasis, ...
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities (NDAB)
Neurodevelopmental disorders can affect how the brain and body develop and function. One rare and complex condition is Neurodevelopmental Disorder with Alopecia and Brain Abnormalities (NDAB). ...
ODC1 Gain-of-Function-Related Neurodevelopmental Disorder (OGND)
ODC1 Gain-of-Function-Related Neurodevelopmental Disorder (OGND) is a complex condition that affects brain development and function. In this article, we will provide simple explanations for different ...
Bupp Syndrome
Bupp Syndrome is a complex medical condition that can have a significant impact on a person's life. In this article, we will break down the key aspects of Bupp Syndrome in simple, plain English ...
Bachmann-Bupp Syndrome
Bachmann-Bupp syndrome (BABS) is a rare genetic disorder caused by gain-of-function changes (pathogenic variants or mutations) in the ODC1 gene. Affected individuals have a distinctive type of ...
Redwater Fever
Redwater Fever, also known as Babesiosis, is a health condition caused by a tiny parasite called Babesia that infects red blood cells. This article will provide you with straightforward explanations ...
Piriplasmosis
Piriplasmosis is a rare medical condition that can affect various aspects of a person's health. In this comprehensive guide, we will simplify the complex terminology and provide easy-to-understand ...
What Is Babesiosis
Babesiosis is a rare infectious disease caused by single-celled microorganisms (protozoa) belonging to the Babesia family. It is believed that the Babesia protozoa are usually carried and transmitted ...
Axenfeld Syndrome
Axenfeld syndrome is a rare eye condition that affects the way the eyes develop. In simple terms, it can cause problems with the front part of the eye, leading to various eye-related issues. To help ...
Rieger Anomaly
Rieger anomaly is a rare genetic disorder that affects the eyes and other parts of the body. In this comprehensive guide, we'll break down everything you need to know about Rieger anomaly in simple, ...
Iridogoniodysgenesis with Somatic Anomalies
Iridogoniodysgenesis with somatic anomalies is a complex medical condition that affects the eyes and can be associated with various other bodily abnormalities. In this article, we'll break down what ...
Rieger Syndrome
Rieger Syndrome is a rare genetic disorder that affects various parts of the body, particularly the eyes and teeth. This article aims to provide a simple and easy-to-understand explanation of Rieger ...
Axenfeld-Rieger Syndrome
Axenfeld-Rieger syndrome (ARS) is a rare genetic disorder that affects the eye as well as other parts of the body. It is estimated to occur in approximately 1 person in 50,000 worldwide. The disorder ...
Primary Lymphedema with Yellow Nails and Pleural Effusion
Primary lymphedema is a rare condition that can lead to various symptoms, including yellow nails and pleural effusion. In this article, we will provide clear and simple explanations for the ...
Primary Lymphedema with Yellow Nails
Primary lymphedema is a rare condition that affects the lymphatic system, causing swelling and fluid buildup in various parts of the body. When primary lymphedema is associated with yellow nails, ...
Waldenström Macroglobulinemia
Waldenström macroglobulinemia (WM) is a rare type of blood cancer that affects a type of white blood cell called B-lymphocytes or B cells. In this article, we will break down the complex aspects of ...
Unusual Lupus-Like Syndrome
Unusual Lupus-Like Syndrome, often referred to as Lupus Mimickers, is a group of conditions that share some similarities with systemic lupus erythematosus (SLE), commonly known as lupus. These ...
Chronic Urticaria as a Manifestation of Venality
Chronic urticaria, often referred to as hives, is a skin condition that can be quite uncomfortable and distressing. It is not caused by venality but rather a variety of underlying factors. In this ...
Nevoid Telangiectasia
Nevoid telangiectasia, also known as spider angioma or spider nevus, is a medical condition characterized by the development of small, dilated blood vessels near the surface of the skin. These red or ...
Trousseau’s Syndrome
Trousseau's syndrome, also known as cancer-associated thrombosis or malignancy-associated thrombosis, is a condition where blood clots develop in the veins, usually because of an underlying cancer. ...
Moschcowitz Syndrome
Moschcowitz syndrome, also known as thrombotic thrombocytopenic purpura (TTP), is a rare but serious medical condition. In this article, we will provide straightforward explanations of its types, ...
Buerger’s Disease
Buerger's disease, also known as thromboangiitis obliterans, is a rare condition that affects the blood vessels in your arms and legs. This article aims to provide you with simple, plain English ...
Horton’s Disease
Horton's disease, also known as Giant Cell Arteritis (GCA), is a medical condition that affects the arteries, primarily those in the head and neck. This article aims to provide a clear and simple ...
Sneddon’s Syndrome
Sneddon's Syndrome is a rare condition that affects the blood vessels in your body, particularly in your skin and brain. In this article, we'll provide you with clear and simple explanations of ...
Progressive Pigmentary Dermatosis of Schamberg
Progressive Pigmentary Dermatosis of Schamberg, often referred to as Schamberg's Disease, is a skin condition that can cause noticeable discoloration and discomfort. This guide aims to provide a ...
Schamberg’s Disease
Schamberg's Disease is a skin condition that can cause discolored patches on your skin. It's not contagious or life-threatening, but it can be bothersome. In this article, we'll explore the different ...
What is Raynaud Phenomenon
Raynaud phenomenon is a condition that affects the blood vessels in your fingers and toes, causing them to temporarily narrow and reduce blood flow. This can lead to color changes, pain, and ...
Stewart-Treves Syndrome
Stewart-Treves Syndrome is a rare but serious medical condition that can develop in some cancer survivors. In this article, we'll provide plain English explanations for key aspects of this condition ...
Achenbach Syndrome
Achenbach Syndrome is a condition that can cause chest pain, often mistaken for a heart attack. It's essential to understand this condition, its various types, what causes it, the common symptoms, ...
Parkes Weber Syndrome
Parkes Weber Syndrome (PWS) is a rare congenital disorder that affects blood vessels and can lead to various health complications. In this article, we will break down the key aspects of PWS in simple ...
Gardner-Diamond Syndrome
Gardner-Diamond Syndrome, also known as autoerythrocyte sensitization syndrome, is a rare and perplexing medical condition that affects some people. In this article, we'll break down the basics of ...
Milroy Disease
Milroy disease is a rare medical condition that affects the lymphatic system, leading to abnormal swelling in various parts of the body. In this article, we will explore ...
Nonne-Milroy-Meige Syndrome
Nonne-Milroy-Meige Syndrome, also known as primary lymphedema, is a rare medical condition that affects the lymphatic system in the body. In this article, we'll break down what this syndrome is, its ...
Njolstad Syndrome
Njølstad syndrome is a syndrome characterized by non-immune hydrops fetalis (NIHF), congenital pulmonary lymphangiectasia (CPL). Clinical features found in Njølstad syndrome include: facial and ...
Mondor’s Disease
Mondor's disease is a rare medical condition that affects the blood vessels, causing pain and swelling in various parts of the body, most commonly the chest and breasts. In this article, we'll ...
Marshall-White Syndrome
Marshall-White syndrome is a rare medical condition that affects the kidneys and leads to a range of health problems. In this article, we will break down Marshall-White syndrome in simple, ...
Degos’ Disease
Degos' disease, medically known as Malignant Atrophic Papulosis (MAP), is a rare and mysterious condition that affects blood vessels and the skin. In this comprehensive guide, we will break down the ...
Purpura Annularis Telangiectodes
Purpura Annularis Telangiectodes, often referred to as Majocchi's disease, is a rare skin condition that can be quite challenging to understand. In this article, we'll provide simple explanations for ...
Majocchi’s Disease
Majocchi's disease, also known as Majocchi granuloma or folliculitis, is a skin condition that can lead to hair loss and discomfort. In this article, we'll break down Majocchi's disease in simple ...
Maffucci Syndrome
Maffucci syndrome is a rare medical condition that affects the bones and skin. In this article, we will provide you with a clear and straightforward explanation of Maffucci syndrome, including its ...
PURPLE Syndrome
PURPLE syndrome is a term used to describe a cluster of symptoms and medical conditions that can affect individuals of all ages. In this article, we will break down PURPLE syndrome into its types, ...
Nicolau Syndrome
Nicolau Syndrome, also known as embolia cutis medicamentosa or livedo-like dermatitis, is a rare and severe skin condition that occurs as a result of an injection or other medical procedures. While ...
Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome, commonly known as Kawasaki Disease, is a rare but serious illness that primarily affects children. In this article, we'll break down this condition in simple terms ...
What Is IgA Vasculitis
IgA vasculitis, also known as Henoch-Schönlein purpura (HSP), is a rare condition that affects blood vessels and can lead to various symptoms. In this article, we will break down the basics of IgA ...
Werlhof’s Disease
Werlhof's Disease, also known as Immune Thrombocytopenia (ITP), is a rare autoimmune disorder that affects blood platelets. Platelets are tiny blood cells responsible for helping your blood clot. In ...
Autoimmune Thrombocytopenic Purpura (ITP)
Autoimmune thrombocytopenic purpura (ITP) is a rare blood disorder that affects the platelets in your blood, causing a low platelet count. Platelets are small cells that help your blood clot when you ...
Idiopathic Thrombocytopenic Purpura (ITP)
Idiopathic thrombocytopenic purpura, often abbreviated as ITP, is a medical condition that affects the blood's ability to clot properly. It can lead to easy bruising and bleeding, but its exact cause ...
Osler–Weber–Rendu Disease (HHT)
Osler–Weber–Rendu Disease, also known as hereditary hemorrhagic telangiectasia (HHT), is a rare genetic disorder that affects blood vessels. In this article, we'll provide you with simple, ...
Osler’s Disease
Osler's disease, also known as hereditary hemorrhagic telangiectasia (HHT), is a rare genetic disorder that affects the blood vessels in the body. This condition can lead to various symptoms and ...
Henoch-Schönlein Purpura (HSP)
Henoch-Schönlein Purpura (HSP) may sound complex, but we'll break it down in simple terms. HSP is a condition that affects your blood vessels. It can cause some unusual symptoms, but don't worry, ...
Hennekam Lymphangiectasia-Lymphedema Syndrome
Hennekam Lymphangiectasia-Lymphedema Syndrome, often referred to as Hennekam syndrome, is a rare genetic disorder that affects the lymphatic system. In this article, we will break down the condition ...
Hennekam Syndrome
Hennekam syndrome is a rare genetic disorder that can affect various parts of the body. In this article, we'll break down everything you need to know about Hennekam syndrome in simple language to ...
Hematopoietic Ulcers
A hematopoietic ulcer is a sore or wound that develops in the lining of the gastrointestinal tract, usually in the stomach or small intestine. These ulcers are typically linked to underlying medical ...
Gougerot-Blum Syndrome
Gougerot-Blum syndrome, also known as primary biliary cholangitis (PBC), is a rare liver disease that affects the small bile ducts in the liver. In this article, we will provide simple explanations ...
Essential Telangiectasia
Essential telangiectasia is a medical condition characterized by small, visible blood vessels appearing on the skin, often on the face or legs. In this comprehensive guide, we will explain essential ...
Generalized Essential Telangiectasia (GET)
Generalized Essential Telangiectasia (GET) is a medical condition characterized by the development of small, dilated blood vessels known as telangiectases on the skin's surface. These red or purple ...
Cobb Syndrome
Cobb Syndrome is a rare medical condition that affects blood vessels in the spinal cord. In this article, we will provide you with clear and simple explanations of the different aspects of Cobb ...
Henoch-Schönlein Purpura
Henoch-Schönlein Purpura (HSP) is a rare condition that primarily affects children but can also occur in adults. This article will provide simple explanations for the types, causes, symptoms, ...
Wyburn-Mason Syndrome
Wyburn-Mason Syndrome, also known as Bonnet-Dechaume-Blanc syndrome, is a rare medical condition that affects the blood vessels in the brain and eyes. This article will provide you with a simple and ...
Dechaume–Blanc Syndrome
Dechaume–Blanc syndrome is a rare medical condition that affects people's ability to control their movements. In this article, we will break down the syndrome into simple terms to help you understand ...
Bier Spots
Bier spots, also known as Bier's spots or idiopathic livedo reticularis, are a medical condition characterized by changes in the skin's appearance. In this article, we will break down everything you ...
Seidlmayer Syndrome
Seidlmayer syndrome, also known as SS, is a rare genetic disorder that can cause a wide range of symptoms in affected individuals. It is important to note that this syndrome is not well-documented in ...
Purpura En Cocarde Avec Oedema
Purpura en cocarde avec oedema is a skin condition with a fancy name, but we'll simplify it for you. In this article, we'll explain what it is, what causes it, the symptoms you might experience, how ...
Mali Acroangiodermatitis
Mali acroangiodermatitis might sound like a complex term, but in simple words, it's a skin condition that affects the hands and feet. In this article, we'll break down everything you need to know ...
Aagenaes Syndrome
Aagenaes syndrome is a rare genetic disorder that affects the lymphatic system, causing various health issues. In this comprehensive guide, we will break down this condition into easy-to-understand ...
Sturge-Weber Syndrome
Sturge-Weber Syndrome (SWS) is a rare neurological disorder that affects the blood vessels in the brain, face, and sometimes other parts of the body. In this article, we will provide you with clear ...
Hereditary Hemorrhagic Telangiectasia (HHT)
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic disorder that affects blood vessels. In this article, we will explain HHT in simple terms, ...
Systemic Capillary Leak Syndrome
Systemic Capillary Leak Syndrome (SCLS) is a rare and complex medical condition that affects the body's blood vessels and can have severe consequences. In this article, we'll break down SCLS into ...
Gleich’s Syndrome
Gleich's Syndrome is a rare medical condition that affects people in various ways. In this article, we will provide simple, easy-to-understand explanations of what Gleich's Syndrome is, its types, ...
Dermatographism
Dermatographism is a skin condition that affects many people. In this article, we will break down what dermatographism is, its different types, causes, symptoms, diagnostic tests, treatment options, ...
Acquired C1 Esterase Inhibitor Deficiency
Acquired C1 esterase inhibitor deficiency, also known as acquired angioedema, is a rare medical condition that can cause swelling in various parts of the body. This condition occurs when the body ...
Sclerosing Lymphangiitis:
Sclerosing lymphangiitis is a rare condition that affects the lymphatic system in the body. In this article, we'll provide simple and easy-to-understand explanations of what sclerosing ...
Miliaria Crystallina
Miliaria crystallina, also known as sweat rash or prickly heat, is a common skin condition that occurs when sweat gets trapped in your sweat ducts. This can lead to discomfort and a rash on your ...
Favre-Racouchot Disease
Favre-Racouchot Disease, also known as Solar Elastosis, is a skin condition primarily caused by excessive sun exposure, particularly in fair-skinned individuals. This article aims to provide simple, ...
Favre-Racouchot Syndrome
Favre-Racouchot Syndrome, also known as solar elastosis, is a skin condition that primarily affects people who have had prolonged exposure to the sun. It can lead to the development of unsightly skin ...
Erythrocyanosis Crurum
Erythrocyanosis crurum, also known as erythrocyanosis crurum rubra, is a medical condition that affects the skin on the lower legs. In simpler terms, it causes the skin on your lower legs to appear ...
Chronic Actinic Dermatitis
Chronic actinic dermatitis, often abbreviated as CAD, is a skin condition that occurs when the skin becomes overly sensitive to sunlight. This condition can cause discomfort and various skin ...
Intractable Plantar Keratosis (IPK)
Intractable Plantar Keratosis (IPK) is a condition that affects the feet, causing discomfort and pain. This article aims to provide a clear and concise understanding of IPK, ...
