Lethargy
Lethargy is a condition that affects many people, making them feel tired, weak, and lacking in energy. In this article, we'll explore the different types of lethargy, its ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Primary Carnitine Deficiency
Primary carnitine deficiency is a rare genetic disorder that affects how your body uses fats for energy. In this article, we'll break down the key aspects of this condition in simple, ...
Hypoketotic Hypoglycemia
Hypoketotic hypoglycemia is a rare medical condition where the body doesn't properly convert food into energy, leading to dangerously low blood sugar levels. In this article, we'll break down the key ...
Hepatic Carnitine Palmitoyltransferase 1 Deficiency
Hepatic Carnitine Palmitoyltransferase 1 (CPT1) deficiency is a rare genetic disorder that affects the body's ability to use fats for energy. In this article, we'll provide simple and straightforward ...
Carnitine Palmitoyltransferase 1A Deficiency
Carnitine Palmitoyltransferase 1A Deficiency, often referred to as CPT1A Deficiency, is a rare genetic disorder that affects how our bodies use fat for energy. In this article, we will explain this ...
Isolated Familial Schwannomatosis
Isolated Familial Schwannomatosis is a rare medical condition that affects the nervous system. In this article, we will break down complex medical jargon and provide simple explanations for the ...
Primary Pigmented Nodular Adrenocortical Disease (PPNAD)
Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare condition that affects the adrenal glands, leading to hormonal imbalances in the body. In this article, we will provide simple, ...
Beckwith-Wiedemann Syndrome (BWS)
Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that can affect various parts of the body. In this simplified guide, we'll break down the types, causes, symptoms, diagnostic tests, ...
Bannayan-Riley-Ruvalcaba Diaease
Bannayan-Riley-Ruvalcaba Syndrome (BRRS) is a rare genetic disorder that can affect various parts of the body. In this article, we'll explain BRRS in simple terms, covering its types, causes, ...
PTEN Hamartoma Syndrome
PTEN Hamartoma Syndrome, often abbreviated as PHTS, is a rare genetic disorder that can have a significant impact on an individual's health and well-being. In this article, we will explain PTEN ...
Peutz-Jeghers Disease
Peutz-Jeghers syndrome is a rare, genetic gastrointestinal disorder characterized by the development of polyps on the mucous lining of the small intestines and dark discolorations on the skin and ...
What Is Hirsutism
Hirsutism is a condition that affects many people, particularly women. It involves the excessive growth of coarse and dark hair in areas where men typically grow hair, such as the face, chest, and ...
Primary Pigmented Nodular Adrenocortical Disease
Primary Pigmented Nodular Adrenocortical Disease, or PPNAD for short, is a rare medical condition that affects the adrenal glands. These glands are responsible for producing hormones that regulate ...
Cardiac Myxomas
Cardiac myxomas are rare but potentially dangerous tumors that develop in the heart. In this simplified guide, we'll break down everything you need to know about cardiac myxomas, from what ...
Multiple Lentigines
Multiple lentigines, also known as "LEOPARD syndrome," is a rare genetic disorder that affects various parts of the body, primarily the skin, heart, eyes, ears, and skeleton. This article aims to ...
Myxoid Neurofibromas
Myxoid neurofibromas are a rare type of tumor that can develop in the nervous system. While they may sound complex, we're here to break down everything you need to know about them in simple terms. In ...
Familial Myxoma
Familial myxoma, also known as Carney complex, is a rare genetic disorder that affects various parts of the body. In this article, we will explore the different aspects of familial myxoma, including ...
Carney Complex Disease
Carney Complex is a rare genetic disorder that can affect various parts of the body. In this article, we will break down the key aspects of Carney Complex, including its types, causes, symptoms, ...
Intellectual Disability Syndrome
Intellectual Disability, often referred to as Intellectual Disability Syndrome, is a condition that affects a person's cognitive abilities and adaptive functioning. In simple terms, it means that ...
Smith-Kingsmore Syndrome
Smith-Kingsmore Syndrome (SKS) is a rare genetic disorder that can affect various aspects of a person's health and development. In this article, we will provide simple and easy-to-understand ...
Schimmelpenning-Feuerstein Syndrome
Schimmelpenning-Feuerstein-Mims Syndrome (SFMS) is a rare genetic disorder that affects various parts of the body. It is essential to understand this syndrome, its causes, ...
Treatments for Schimmelpenning Syndrome
Schimmelpenning Syndrome is a rare genetic disorder that can affect different parts of the body. In this article, we'll break down what Schimmelpenning Syndrome is, its types, causes, symptoms, ...
Noonan-like Syndrome with Loose Anagen Hair (NSLAH)
Noonan-like Syndrome with Loose Anagen Hair (NSLAH) is a rare genetic disorder that affects various parts of the body, including the hair, skin, and internal organs. In this article, we will break ...
Ras-Associated Autoimmune Leukoproliferative Disorder (RALD)
Ras-Associated Autoimmune Leukoproliferative Disorder (RALD) is a rare medical condition that affects the immune system. In this article, we'll break down RALD into simple terms to help you ...
Capillary Malformation-Arteriovenous Malformation (CM-AVM)
Capillary Malformation-Arteriovenous Malformation (CM-AVM) is a rare medical condition that affects blood vessels in the body. In this article, we will break down this complex condition into simple, ...
Costello Syndrome
Costello Syndrome is a rare genetic disorder that affects various parts of the body. In this article, we will provide you with a comprehensive understanding of Costello Syndrome, including its types, ...
Noonan Syndrome with Multiple Lentigines (NSML)
Noonan Syndrome with Multiple Lentigines (NSML), also known as Leopard Syndrome, is a rare genetic disorder that affects various parts of the body. This article aims to provide simple, plain English ...
What Is Noonan Syndrome
Noonan Syndrome is a rare genetic disorder that affects various parts of the body. It can cause a wide range of symptoms and challenges for those who have it. In this article, we will provide simple ...
RASopathies
RASopathies are a group of rare genetic disorders that affect the body's signaling pathways, causing a wide range of symptoms. In this article, we'll break down RASopathies in simple terms to enhance ...
CFC Syndrome
CFC syndrome, short for Cardiofaciocutaneous syndrome, is a rare genetic condition that affects various parts of the body. In this article, we will explore the different aspects of CFC syndrome in ...
What Is Cardiofaciocutaneous Syndrome
Cardiofaciocutaneous (CFC) syndrome is one of the RASopathies and is a rare genetic disorder is typically characterized by unusually sparse, brittle, curly hair; relatively large head (relative ...
Verner-Morrison Syndrome
Verner-Morrison Syndrome, also known as WDHA syndrome or VIPoma, is a rare medical condition that affects the digestive system. In simple terms, it involves problems with the pancreas and the release ...
Systemic Mast Cell Disease
Systemic mast cell disease (mastocytosis) is a rare disorder characterized by abnormal accumulations of specific cells (mast cells) normally found in connective tissue. The liver, spleen, lungs, ...
Pancreatic Cholera
Pancreatic cholera or VIPoma is characterized by watery diarrhea, the loss of potassium through the urine (hypokalemia) and acidosis. In most cases this disorder is due to a non-B-islet-cell tumor of ...
Citrullinemia Type 1
Citrullinemia Type 1, also known as CTLN1, is a rare genetic disorder that affects the body's ability to process a specific amino acid called citrulline. This article aims to provide you with a ...
Argininosuccinic Acid Synthetase Deficiency
Argininosuccinic acid synthetase deficiency, also known as citrullinemia type 1, is a rare genetic disorder that affects the body's ability to break down a specific amino acid called argininosuccinic ...
Urea Cycle Disorders
The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the ...
Recessive Genetic Disorders
Recessive genetic disorders are a group of conditions caused by faulty genes inherited from both parents. These disorders can affect various aspects of a person's health, and they often manifest with ...
Carbamylphosphatase Deficiency Type I
Carbamylphosphatase deficiency type I, also known as carbamoyl phosphate synthetase 1 deficiency (CPS1 deficiency), is a rare genetic disorder that affects the body's ability to break down ammonia, a ...
Carbamoyl Phosphate Synthetase Deficiency (CPSD)
Carbamoyl Phosphate Synthetase Deficiency (CPSD) is a rare genetic disorder that affects the body's ability to break down ammonia, a waste product produced during the metabolism of proteins. This ...
Carbamoylphosphatase Deficiency Type I
Carbamoylphosphatase deficiency Type I, also known as CPT1 deficiency, is a rare genetic disorder that affects the way our bodies process certain substances. This condition can lead to a range of ...
Tay-Sachs Disease
Tay-Sachs Disease is a rare genetic disorder that primarily affects the nervous system. It can have devastating consequences, but understanding its various aspects can help individuals and families ...
Gaucher Disease
Gaucher Disease is a rare genetic disorder that affects people's ability to break down a specific type of fat called glucocerebroside. This buildup of fat can lead to various health problems. In this ...
Wilson’s Disease
Wilson's Disease is a rare genetic disorder that affects the body's ability to process copper properly. This article aims to provide a clear and concise explanation of Wilson's Disease, covering ...
Autosomal Recessive Genetic Disorder
Autosomal recessive genetic disorders are a group of diseases caused by abnormalities in a person's genes. These disorders often run in families and result from inheriting two faulty copies of a ...
Carbamoyl Phosphate Synthetase 1 Deficiency
Carbamoyl phosphate synthetase 1 deficiency (CPSID) is a rare inherited disorder characterized by complete or partial lack of the carbamoyl phosphate synthetase (CPS) enzyme. This is one of five ...
Van Bogaert-Bertrand Syndrome
Van Bogaert-Bertrand Syndrome is a rare medical condition that affects the nervous system and can cause various symptoms in individuals. In this simplified guide, we'll break down what this syndrome ...
Spongy Degeneration of the Central Nervous System
Spongy degeneration of the central nervous system, also known as Canavan disease, is a rare genetic disorder that affects the brain and nervous system. This article aims to provide you with a ...
Canavan-Van Bogaert-Bertrand Disease
Canavan-Van Bogaert-Bertrand disease, also known simply as Canavan disease, is a rare genetic disorder that affects the nervous system. In this article, we'll break down this complex condition into ...
Canavan’s Leukodystrophy
Canavan's leukodystrophy is a rare genetic disorder that affects the brain's white matter. In this article, we will simplify the complex terminology and provide plain English explanations for various ...
Aspartoacylase Deficiency
Aspartoacylase deficiency is a rare genetic disorder that affects the brain and nervous system. In simple terms, it's a condition where the body lacks an important enzyme called aspartoacylase. This ...
Canavan Disease
Canavan disease is rare genetic neurological disorder characterized by the spongy degeneration of the white matter in the brain. Affected infants may appear normal at birth, but usually develop ...
Juvenile Paget Disease
Juvenile Paget disease is a rare genetic condition that affects the bones, causing them to weaken and deform. In this article, we will provide a simple and easy-to-understand explanation of the ...
Kenny-Caffey Syndrome Type 2
Kenny-Caffey Syndrome Type 2, also known as KCS2, is a rare genetic disorder that affects bone development and hormone production. In this article, we will simplify the complex medical jargon to ...
Engelmann’s Dysplasia
Engelmann's dysplasia, also known as progressive diaphyseal dysplasia (PDD), is a rare genetic disorder that affects the bones. In this article, we will provide simple and easy-to-understand ...
Progressive Diaphyseal Dysplasia
Progressive Diaphyseal Dysplasia (PDD) is a rare genetic disorder that affects the development of bones in the body. In this article, we will provide a simple and concise overview of PDD, including ...
Diaphyseal Hyperostosis
Diaphyseal hyperostosis may sound complicated, but we're here to break it down in simple terms. In this article, we will explain what it is, its causes, symptoms, how it's diagnosed, and various ...
Diaphyseal Dysplasia
Diaphyseal dysplasia is a rare genetic disorder that affects the bones in our bodies. This condition can lead to various problems in bone development and growth. In this article, we will explore ...
Camurati-Engelmann Disease
Camurati-Engelmann disease (CED) is characterized by increased bone density primarily affecting the long bones of the arms and legs and the skull. The thickening of these bones leads to pain, a ...
Odontohypophosphatasia
Odontohypophosphatasia is a rare genetic disorder that affects the development of teeth and bones. In this article, we will explain Odontohypophosphatasia in simple terms, covering its types, causes, ...
Camptomelic Syndrome
Camptomelic syndrome is a rare genetic disorder that affects bone development in the human body. This article aims to provide a simple and clear explanation of Camptomelic syndrome, including its ...
Camptomelic Dwarfism
Camptomelic dwarfism is a rare genetic disorder that affects a person's growth and development. In this article, we will provide you with simple and easy-to-understand explanations of Camptomelic ...
Campomelic Syndrome
Campomelic Syndrome is a rare genetic disorder that affects the development of bones and other parts of the body. In this article, we will provide simple explanations for various aspects of ...
Campomelic Dysplasia
Campomelic Dysplasia (CD) is a rare genetic disorder that affects the development of bones and other parts of the body. This article aims to provide a clear and concise overview of Campomelic ...
Campomelic Dwarfism
Campomelic dwarfism is a rare genetic condition that affects a person's growth and development. In this article, we'll break down the complex terminology and provide simple, easy-to-understand ...
Acampomelic Campomelic Dysplasia
Acampomelic campomelic dysplasia (ACD) is a rare genetic disorder that affects the development of bones in the body. In this article, we will simplify complex medical jargon to provide ...
Campomelic Syndrome
Campomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; ...
Chronic Immune Thrombocytopenia
Chronic Immune Thrombocytopenia, often referred to as Chronic ITP, is a rare blood disorder that affects the platelets in your blood. In this article, we will break down the various aspects of this ...
Stiff Person Syndrome
Stiff Person Syndrome (SPS) is a rare neurological disorder that can make daily life challenging. In this article, we will explain SPS in simple terms, covering its types, causes, symptoms, ...
Chronic Inflammatory Joint Diseases
Chronic Inflammatory Joint Diseases, often referred to as autoimmune or inflammatory joint conditions, are a group of long-term health issues that affect the joints and cause pain, swelling, and ...
Progressive Metabolic Disorders
Progressive metabolic disorders are a group of diseases that affect how your body uses and stores energy from the food you eat. These disorders can lead to serious health problems over time. In this ...
Alpers Syndrome
Alpers Syndrome is a rare and serious neurological disorder that affects both children and adults. In this article, we will provide a simplified and easily understandable explanation of Alpers ...
Pearson Syndrome
Pearson Syndrome is a rare and serious genetic disorder that primarily affects children. In this article, we will provide easy-to-understand explanations for the types, causes, symptoms, diagnostic ...
NARP Syndrome
NARP syndrome, or Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome, is a rare genetic condition that affects various parts of the body. In this article, we'll provide straightforward ...
MERRF Syndrome
MERRF syndrome, which stands for Myoclonic Epilepsy with Ragged Red Fibers, is a rare and complex genetic disorder that affects various aspects of a person's health. This article aims to provide you ...
MELAS Syndrome
MELAS syndrome, which stands for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes, is a rare and complex medical condition. This article aims to provide a simplified ...
Leigh Syndrome
Leigh Syndrome, also known as Leigh's disease, is a rare and severe genetic disorder that affects the central nervous system. It primarily affects infants and young children, causing progressive and ...
Sporadic Cerebral Small Vessel Disease
Sporadic cerebral small vessel disease (SVD) related to age and hypertension is a progressive and common neurological disorder characterized by dysfunction of blood vessels supplying the white-matter ...
Cerebral Autosomal Dominant Arteriopathy(CADASIL)
Cerebral Autosomal Dominant Arteriopathy (CADASIL) is a rare genetic disorder that affects blood vessels in the brain. In this article, we will provide simple, easy-to-understand explanations for 20 ...
Endocarditis
Endocarditis is a condition that affects the inner lining of the heart, known as the endocardium. It can be a serious and potentially life-threatening condition if not properly managed. In this ...
Henoch-Schonlein Syndrome
Henoch-Schonlein Purpura (HSP) is a rare but important medical condition that primarily affects children. In this article, we'll break down everything you need to know about HSP in simple terms. ...
Treatments for IgA Nephropathy
IgA nephropathy, also known as Berger's disease, is a kidney condition that occurs when an antibody called immunoglobulin A (IgA) builds up in the kidneys, causing inflammation and damage. In this ...
C3 Glomerulonephritis
C3 Glomerulonephritis might sound complex, but we're here to break it down for you in plain English. This guide will help you understand what it is, what causes it, its symptoms, how it's diagnosed, ...
Dense Deposit Disease (DDD)
Dense Deposit Disease (DDD) is a rare kidney disorder that can have a significant impact on a person's health. In this article, we will provide simple and easy-to-understand explanations of DDD, its ...
C3 Glomerulopathy
C3 Glomerulopathy is a rare kidney disorder that affects how the kidneys filter waste and maintain balance in the body. In this article, we will provide simple explanations of its types, causes, ...
Trigonocephaly Syndrome
Trigonocephaly syndrome is a rare craniofacial condition that affects the shape of a person's skull and facial features. In this article, we will provide simple explanations of what trigonocephaly ...
Trigonocephaly C Syndrome
Trigonocephaly C syndrome is a rare genetic condition that affects the shape of the skull and can lead to various developmental challenges. In this article, we will provide you with simple, ...
C Syndrome
C syndrome, also known as Opitz trigonocephaly syndrome (OTCS), is a complex condition defined by a broad group of clinical features and abnormalities. Children may be given this preliminary ...
Opitz Trigonocephaly Syndrome (OTCS)
Opitz trigonocephaly syndrome (OTCS), is a complex condition defined by a broad group of clinical features and abnormalities. Children may be given this preliminary diagnosis and later diagnosed with ...
Rokitansky’s Disease
Rokitansky's Disease, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome, is a rare congenital disorder that affects the female reproductive system. In this article, we'll provide simple ...
Hepatic Veno-Occlusive Disease
Hepatic Veno-Occlusive Disease (Hepatic VOD) is a rare and serious liver condition that can cause a variety of health problems. In this article, we will explain Hepatic VOD in simple terms, covering ...
Chiari Malformation
Chiari Malformation, often called Chiari's Disease, is a rare medical condition that affects the brain and spinal cord. In simple terms, it happens when a part of the brain is pushed down into the ...
Chiari-Budd Syndrome
Chiari-Budd Syndrome is a complex medical condition that affects the liver and heart. In this article, we will break down the key aspects of this syndrome in simple language. We'll explain its types, ...
Budd’s Syndrome
Budd's Syndrome is a rare medical condition that affects the liver and its associated structures. In this article, we will break down the complex aspects of Budd's Syndrome into simple and ...
Budd-Chiari Syndrome
Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction (occlusion) of the veins of the liver (hepatic veins). Symptoms associated with Budd Chiari syndrome include pain in ...
Romano-Ward Syndrome
Romano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from ...
Brugada Syndrome
Brugada Syndrome is a rare and potentially life-threatening heart condition that can lead to sudden cardiac arrest. In this article, we will provide simple and easy-to-understand explanations for key ...
Undulant Fever
Undulant fever, also known as brucellosis, is a bacterial infection that affects humans and animals. In this article, we will provide simple, easy-to-understand explanations of what undulant fever ...
Phthisis
Phthisis, also known as tuberculosis or TB, is a contagious bacterial infection caused by Mycobacterium tuberculosis. It primarily affects the lungs but can potentially damage other organs as well. ...
Neapolitan Fever
Neapolitan Fever is a term often used colloquially to describe a high fever or intense illness, but it doesn't refer to a specific medical condition. In this article, we will provide you with a ...
Melitococcosis
Melitococcosis is a relatively rare but serious infection caused by a bacterium called Melitococcus. In this article, we will break down what Melitococcosis is, its types, possible causes, common ...
Melitensis Septicemia
Melitensis septicemia is a serious medical condition that occurs when the bacterium Brucella melitensis enters the bloodstream, leading to a range of symptoms and complications. In this comprehensive ...
Maltese Fever
Maltese Fever, also known as Brucellosis, is a bacterial infection that can affect humans and animals. In this comprehensive guide, we will explain Maltese Fever in simple, easy-to-understand ...
Goat Fever
Goat fever, also known as brucellosis or Malta fever, is a bacterial infection that affects both animals and humans. In this article, we'll provide simple and clear explanations of what goat fever ...
Gibraltar Fever
Gibraltar Fever, also known as Mediterranean Fever or Brucellosis, is an infectious disease that can affect both humans and animals. In this article, we will provide you with straightforward ...
Fievre Caprine
Fievre Caprine, commonly known as Goat Fever, is an infectious disease that affects goats and can occasionally transmit to humans. In this article, we will simplify complex medical jargon and provide ...
Febris Undulans
Febris Undulans, commonly known as Fever Waves, is a medical condition characterized by recurring fevers that come and go in waves. In this article, we will provide a simple and clear explanation of ...
Febris Sudoralis
Febris Sudoralis, commonly known as a fever, is a common medical condition characterized by an elevated body temperature. In this article, we will explore Febris Sudoralis, its types, causes, ...
Febris Melitensis
Febris Melitensis, commonly known as Malta fever, is an infectious disease caused by the bacterium Brucella melitensis. In this article, we will provide a simplified overview of Febris Melitensis, ...
Cyprus Fever
Cyprus Fever, also known as Mediterranean Spotted Fever (MSF), is a tick-borne illness that can affect people in various regions, including Cyprus, the Mediterranean, and some parts of Europe. In ...
Brucellemia
Brucellemia is a rare but serious bacterial infection caused by the Brucella species. This article aims to provide you with a simple and easy-to-understand guide to Brucellemia, including its types, ...
Bang Disease
Bang Disease, scientifically known as Brucellosis, is a bacterial infection that can affect humans and various animals. In this article, we'll break down the key aspects of Bang Disease in plain, ...
