CHARGE Syndrome
Colobomas of the eye-heart defects, also known as CHARGE syndrome, is a rare genetic disorder that affects various parts of the body. This condition can have a significant impact on a person's health ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Colobomas of the Eye-Heart Defects
Colobomas of the eye-heart defects is a rare medical condition that affects both the eyes and the heart. In this article, we will break down complex medical terminology into simple, plain English ...
Cockayne Syndrome
Cockayne Syndrome (CS) is a rare genetic disorder that affects various aspects of a person's health and development. In this article, we'll break down Cockayne Syndrome into manageable sections, ...
What is Porokeratosis Syndrome?
Porokeratosis syndrome is a rare skin condition that can affect people of all ages. It's important to understand what porokeratosis syndrome is, its various types, causes, symptoms, diagnostic tests, ...
Anal Anomalies–Porokeratosis Syndrome
Anal Anomalies–Porokeratosis Syndrome, often referred to as AAPS, is a rare medical condition that affects various aspects of a person's health. In this comprehensive article, we will provide you ...
Craniosynostosis
Craniosynostosis is a condition that affects the skull's growth in infants and young children. In this article, we will provide simple, easy-to-understand explanations for various aspects of ...
Cicatricial Junctional Epidermolysis Bullosa
Cicatricial junctional epidermolysis bullosa (CJEB) is a rare and painful skin condition that affects people from birth. In this article, we will provide a straightforward explanation of CJEB, ...
Chondrodysplasia Punctata
Chondrodysplasia punctata (CDP) is a rare genetic disorder that affects bone and cartilage development in the human body. This article aims to provide a comprehensive understanding of CDP in simple ...
Childhood Tumor Syndromes
Childhood tumor syndrome is a complex condition that affects children, leading to the development of tumors or abnormal growths in their bodies. In this article, we'll provide simple explanations of ...
Clouston Syndrome
Clouston Syndrome is a rare genetic disorder that affects a person's hair, skin, and nails. In this article, we will break down Clouston Syndrome into simple terms to help you understand its types, ...
Porokeratosis Palmaris et Plantaris
Porokeratosis Palmaris et Plantaris (PPP) is a rare skin condition that primarily affects the palms of the hands and the soles of the feet. This article provides a simplified overview of PPP, ...
Mal de Meleda
Mal de Meleda is a rare genetic skin disorder that affects a person's palms, soles, and sometimes other parts of the body. This article aims to provide a clear and concise overview of Mal de Meleda, ...
Howel-Evans Syndrome
Howel-Evans Syndrome, also known as palmoplantar keratoderma with esophageal cancer (PPKE), is a rare genetic condition that can lead to skin and digestive problems. In this article, we'll break down ...
Greither’s Keratoderma Syndrome
Greither's Keratoderma Syndrome, also known as Greither's syndrome or keratoderma hereditarium mutilans, is a rare genetic disorder that affects the skin, nails, and, in some cases, the eyes and ...
Vohwinkel Syndrome
Vohwinkel Syndrome is a rare genetic disorder that affects the skin and can cause various complications. In this article, we'll provide plain English explanations for the types, causes, symptoms, ...
Epidermolytic Palmoplantar Keratoderma
Epidermolytic Palmoplantar Keratoderma (EPPK) is a rare genetic skin disorder that affects the palms of the hands and soles of the feet. This condition can cause thickening of the skin, blistering, ...
Palmoplantar Keratoderma
Palmoplantar keratoderma (PPK) is a skin condition that primarily affects the palms of the hands and soles of the feet. It can lead to thickened, dry, and often painful skin in these areas. In this ...
Keratoderma Syndrome
Keratoderma syndrome is a rare skin disorder that affects the palms of the hands and soles of the feet. It can be challenging to navigate this condition, so we've compiled a comprehensive guide to ...
Neuropathy-Ichthyosis-Keratoderma Syndrome
Neuropathy-Ichthyosis-Keratoderma Syndrome, often abbreviated as NI-KS, is a rare genetic disorder that affects various aspects of an individual's health. In this article, we'll provide simple, ...
Cerebral Dysgenesis
Cerebral dysgenesis is a complex medical condition that affects the development of the brain. In simple terms, it means that the brain doesn't form properly before birth. This article aims to provide ...
McKusick Type Metaphyseal Chondrodysplasia
Metaphyseal chondrodysplasia is a rare genetic condition that affects the growth of bones in the body. It's important to break down this complex medical term into simpler language ...
Cartilage-Hair Hypoplasia
Cartilage-hair hypoplasia (CHH) is a rare genetic disorder that affects various parts of the body. In this article, we'll simplify the complex medical jargon and provide clear explanations of CHH, ...
Facial Dysmorphism
Facial dysmorphism is a term used to describe unusual or abnormal facial features that differ from the typical appearance. These differences can result from various causes and may be associated with ...
Cardiofaciocutaneous Syndrome
Cardiofaciocutaneous syndrome (CFC syndrome) is a rare genetic disorder that affects various parts of the body, leading to a range of physical and developmental challenges. In this article, we will ...
Cantú Syndrome
Cantú syndrome is a rare genetic disorder that affects various parts of the body. In this article, we will explore the different aspects of Cantú syndrome in simple, plain English to improve ...
Short Stature Syndrome
Short stature syndrome, often referred to as dwarfism, is a condition characterized by an individual's significantly shorter height compared to the average height for their age and gender. In this ...
Brittle Hair and Its Impact on Intellectual Functioning
Brittle hair and intellectual impairment are two distinct health issues, but they can sometimes be interconnected. In this article, we will discuss each condition separately, providing simple ...
Blue Rubber Bleb Nevus Syndrome
Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare medical condition that affects blood vessels and can cause a variety of symptoms.Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare medical condition ...
Bloom-Torre-Machacek Syndrome
Bloom-Torre-Machacek Syndrome is a rare genetic disorder that can cause various health problems. In this simplified guide, we'll break down everything you need to know about this condition in plain ...
What Is Bloom Syndrome
Bloom syndrome is a rare genetic disorder that can affect various aspects of a person's health and development. In this article, we'll break down the complex information about Bloom syndrome into ...
Beare-Stevenson Cutis Gyrata Syndrome
Beare-Stevenson Cutis Gyrata Syndrome (BSCGS) is a rare genetic disorder that affects the development of the skull and skin. In this article, we will provide you with simple and clear explanations of ...
Follicular Atrophoderma
Follicular atrophoderma may sound complicated, but we're here to break it down for you in simple terms. In this article, we'll explain what follicular atrophoderma is, list its types, and explore its ...
What Is Bazex Syndrome?
Bazex syndrome, also known as Bazex-Dupré-Christol syndrome, is a rare genetic disorder that affects the skin and other body systems. This condition can cause various symptoms and complications, ...
Bart Syndrome
Bart Syndrome is a rare medical condition that affects the kidneys and can lead to various health problems. In this article, we will provide a simple and easy-to-understand explanation of Bart ...
Autoimmune Ectodermal Dystrophy Syndrome
Autoimmune Ectodermal Dystrophy Syndrome, also known as AEDS, is a rare and complex medical condition that affects various parts of the body, particularly the skin, hair, nails, and mucous membranes. ...
Autoimmune Polyendocrinopathy
Autoimmune polyendocrinopathy is a rare but complex condition that affects multiple glands in the body. This article aims to provide simple, easy-to-understand explanations of the types, causes, ...
Atrophodermia Vermiculata
Atrophodermia Vermiculata is a rare skin condition that can affect individuals of all ages. In this article, we will provide simple and clear explanations of what Atrophodermia Vermiculata is, its ...
Papular Atrichia
Papular atrichia is a rare skin condition that affects hair follicles, leading to hair loss and the development of small bumps on the skin. In this article, we'll explore the different types of ...
Atrichia with Papular Lesions
Atrichia with papular lesions is a rare skin condition that affects individuals, leading to hair loss and the development of small, raised bumps on the skin. In this article, we will explore the ...
Louis-Bar Syndrome
Louis-Bar syndrome, also known as ataxia-telangiectasia (A-T), is a rare genetic disorder that affects various systems in the body. In this article, we will provide simple explanations for the types, ...
Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare genetic disorder that affects various aspects of a person's health. This article provides a simplified overview of A-T, including its types, causes, symptoms, ...
Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
Arthrogryposis-renal dysfunction-cholestasis Syndrome, often referred to as ARC Syndrome, is a rare genetic disorder that affects various systems in the body, including the musculoskeletal, renal, ...
Acrocephalosyndactyly
Acrocephalosyndactyly is a rare genetic disorder that affects the development of a person's head, face, hands, and feet. It can have different types, causes, symptoms, and treatment options. In this ...
Apert Syndrome
Apert syndrome is a rare genetic condition that affects the way a person's face, skull, and hands develop. In this article, we will break down Apert syndrome into easily understandable sections, ...
Ferguson-Smith Keratoacanthomas
Ferguson-Smith Type of Multiple Self-Healing Keratoacanthomas, often referred to simply as Ferguson-Smith Keratoacanthomas, is a rare skin condition characterized by the development of multiple ...
Autoimmune Progesterone Dermatitis
Autoimmune Progesterone Dermatitis (APD) is a rare, unusual condition related to sensitivity to a woman's own progesterone. This disorder is connected to the menstrual cycle, presenting symptoms that ...
Autoimmune Estrogen Dermatitis
Autoimmune estrogen dermatitis is a form of autoimmunity. This means your immune system, which typically fights off harmful things like bacteria and viruses, mistakenly attacks your own cells. In ...
What Is RPA? Robotic Process Automation
The ongoing shift toward automation and artificial intelligence (AI) technologies is rapidly reshaping the modern workforce. There’s a popular misconception that AI is merely a tech shift when, in ...
What Is Facebook Marketing
B2C and B2-B businesses can build brand awareness through Facebook marketing. The trick is knowing which of Facebook's many free and paid options are best for your company—and finding the right ...
Bronchiolitis obliterans organizing pneumonia (BOOP)
Bronchiolitis obliterans organizing pneumonia (BOOP) is a rare inflammatory form of idiopathic diffuse interstitial lung disorder that was first described in the 1980s as a unique disease entity ...
Branchiootorenal Spectrum Syndrome
Branchiootorenal spectrum disorders are inherited as autosomal dominant genetic conditions characterized by malformations of the outer, middle, and inner ear associated with conductive, ...
Genetics-Genes-Heredity All About You Need To Knows
Genetics is the scientific study of genes and heredity—of how certain qualities or traits are passed from parents to offspring as a result of changes in DNA sequence. A gene is a segment of DNA that ...
Branch-Oculo-Facial Syndrome (BOFS)
Branch-oculo-facial syndrome (BOFS) is a rare genetic autosomal dominant multiple-malformation congenital disorder with defects of the head and neck facies, growth retardation, imperforate ...
Bowenoid Papulosis
Bowenoid Papulosis is a rare, uncommon sexually transmitted cutaneous condition that occurs in both males and females and causes thought to be caused by human papillomavirus type 16 characterized ...
Bowen Hutterite Syndrome
Bowen Hutterite syndrome is a rare genetic lethal autosomal recessive disorder characterized by distinctive malformations of the head and facial (craniofacial) area as well as additional skeletal, ...
Bowen Disease
Bowen disease is a rare chronic atypical slowly progressive epithelial proliferation in-situ squamous cell carcinoma (SCC) of epidermis skin disorder characterized by multiple well-demarcated ...
Bosma Arhinia Microphthalmia Syndrome
Bosma arhinia microphthalmia (BAM) syndrome is an extremely rare genetic congenital disorder characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and ...
Börjeson-Forssman-Lehmann Syndrome (BFLS)
Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare X-linked recessive intellectual disability (ID) disorder characterized by mutations in the PHF6 gene and characterized by variable ...
Bohring-Opitz Syndrome (BOS)
Boring-Opitz syndrome (BOS) is a rare, multiple anomaly syndrome that has distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable ...
Bean Syndrome
Bean syndrome is also known as Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital blood vessel (vascular) anomaly in various organ systems including the liver, spleen, heart, eye, and ...
Blue Rubber Bleb Nevus Syndrome (BRBNS)
Blue rubber bleb nevus syndrome (BRBNS) is also known as Bean syndrome. is a rare congenital blood vessel (vascular) anomaly in various organ systems including the liver, spleen, heart, eye, and ...
Blue Diaper Syndrome
Blue diaper syndrome is a rare, genetic metabolic disorder characterized by the incomplete intestinal breakdown of tryptophan, a dietary nutrient for bluish urine-stained diapers. It is caused by a ...
Bloom Syndrome
Bloom syndrome (Bryn) also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema is a rare genetic autosomal recessive inherited, disorder characterized by genomic instability ...
Blepharophimosis
Blepharophimosis, ptosis, and epicenters inverses syndrome (BEES) is a rare developmental condition affecting the four major features of eyelids and ovary, all present at birth: blepharophimosis, ...
Blastomycosis
Blastomycosis is a rare infectious multisystem disease that is caused by the fungus Blastomyces dermatitidis. The symptoms vary greatly according to the affected organ system. It is characterized ...
Bladder Exstrophy Epispadias-Cloacal Exstrophy Complex
Bladder exstrophy-epispadias-cloacal dystrophy complex is a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system, and sometimes the intestinal tract. In classic ...
Bjornstad Syndrome
Bjornstad syndrome (BS) is an extremely rare autosomal recessive genetic disorder characterized by abnormally flattened, mental retardation, hearing loss, twisted hair shafts (pili torti), and, in ...
Hornstein–Knickenberg Syndrome
Hornstein–Knickenberg syndrome is a rare, autosomal dominantly inherited genodermatosis complex genetic monogenic skin disorder (genodermatosis) characterized by multiple cutaneous hamartomas ...
Birt-Hogg-Dube Syndrome
Birt-Hogg-Dubé (BHD) syndrome also known as Hornstein–Knickenberg syndrome is a rare, autosomal dominantly inherited genodermatosis complex genetic monogenic skin disorder (genodermatosis) ...
Biotinidase Deficiency
Biotinidase deficiency (BTD) is inherited via an autosomal recessive pattern via two pathogenic variants in the BTD gene, located at chromosome 3p25.1. BTD encodes for the biotinidase protein and ...
Binswanger Disease
Binswanger disease also known as subcortical arteriosclerotic degeneration of the white matter encephalopathy is a progressive neurological chronic, uncontrolled, arterial hypertension disorder ...
Binder-Type Nasomaxillary Dysplasia
Binder-type nasomaxillary dysplasia also known as binder's syndrome is a rare developmental defect that is present at birth (congenital) and characterized by a retruded mid-face with an extremely ...
Biliary Atresia
Biliary atresia is a rare gastrointestinal obstructive cholangiopathy disease of the intrahepatic or extrahepatic bile duct disorder characterized by the destruction or absence of all or a portion ...
Bile Acid Synthesis Disorders (BASDs)
Bile acid synthesis disorders (BASDs) are a group of rare metabolic disorders characterized by defects in the creation (synthesis) of bile acids. Bile acids are chemical compounds found in the ...
Best Vitelliform Macular Dystrophy (BVMD)
Best vitelliform macular dystrophy (BVMD) is a genetic rare autosomal dominant form of macular degeneration (damage to a part of the eye called the macula) that occurs due to the mutation of BEST1 ...
Berylliosis
Berylliosis also known as chronic beryllium disease (CBD), is a granulomatous disease caused by exposure to beryllium a form of metal poisoning caused by inhalation of beryllium dust, vapors, or ...
Bernard-Soulier Syndrome (BSS)
Bernard-Soulier syndrome (BSS) is a rare autosomal-recessive inherited mucocutaneous bleeding disorder of blood clotting (coagulation) characterized by unusually large platelets, and unusually ...
Benign Paroxysmal Position Vertigo (BPPV)
Benign paroxysmal position vertigo (BPPV) is a peripheral perception of motion in the absence of movement disorder characterized by a brief, sensation of swaying, tilting, spinning, or feeling ...
Benign Essential Blepharospasm (BEB)
Benign essential blepharospasm (BEB) is a rare focal cranial dystonia neurological disorder characterized by involuntary contractions of orbicularis oculi muscle contractions, resulting in ...
Bejel, Dichuchwa
Bejel is an infectious disease non-venereal tropical infectious disease caused by the organism Treponema pertenue that is rare in the United States but common in certain parts of the world. The ...
Behçet’s Syndrome
Behçet’s syndrome also known as an oculo-orogenital syndrome, malignant aphthosis is a rare multisystem inflammatory chronic remitting and relapsing auto-inflammatory systemic vascular disorder of ...
Beckwith-Wiedemann Syndrome (BWS)
Beckwith-Wiedemann syndrome (BWS) is the most common genetic imprinting, overgrowth, cancer predisposition, genetically and clinically heterogeneous disorder characterized by ...
Bartter Disease
Bartter syndrome is a general term for a group of rare genetic autosomal recessive disorders of salt reabsorption resulting in extracellular fluid volume depletion with low/normal blood pressure in ...
Bartter Syndrome
Bartter syndrome is a general term for a group of rare genetic autosomal recessive disorders of salt reabsorption resulting in extracellular fluid volume depletion with low/normal blood pressure in ...
Bartonellosis
Bartonellosis is a group of gram-negative intracellular facultative bacterium emerging infectious diseases caused by bacteria belonging to the Bartonella genus. Bartonella includes at least 22 ...
Barth Syndrome
Barth syndrome is a genetic ultra-rare, infantile-onset, X-linked recessive metabolic mitochondrial disorder characterized by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth ...
Bardet-Biedl Syndrome (BBS)
Bardet-Biedl syndrome (BBS) is a genetic rare autosomal recessive ciliopathy condition that impacts multiple body systems. It is characterized by heterogeneous clinical manifestations including ...
Barakat Syndrome
Barakat syndrome, also known as HDR syndrome is a clinically variable (heterogeneous), rare genetic disorder characterized by three characteristics: hypoparathyroidism (H) (decreased function of ...
Banti Syndrome
Banti syndrome is a disorder of the spleen, the large, gland-like organ in the upper left side of the abdomen that produces red blood cells before birth and, in newborns, removes and destroys aged ...
Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
Bannayan-Riley-Ruvalcaba syndrome (BRRS) also known as Bannayan-Zonana syndrome, Riley-Smith syndrome, and Ruvalcava-Myhre-Smith syndrome is a rare genetic overgrowth syndrome and hamartomatous ...
Balo Disease
Balo Disease is also known as Balo disease, encephalitis periaxialis concentrica, leukoencephalitis periaxialis concentric and concentric sclerosis are rare and progressive variants of multiple ...
Baller-Gerold Syndrome
Baller-Gerold syndrome (BGS) also referred to as craniosynostosis-radial aplasia syndrome is a rare genetic disorder that is characterized by craniosynostosis, particularly of the coronal sutures, ...
Balantidiasis
Balantidiasis is a rare intestinal infection caused by the bacterium, Balantidium coli, a single-celled parasite (ciliate protozoan) that frequently infects pigs but on occasion (rarely) infects ...
Babesiosis
Babesiosis is a rare infectious disease caused by single-celled microorganisms (protozoa) belonging to the Babesia family. Babesiosis is an infectious disease caused by intraerythrocytic, ...
Axenfeld-Rieger Syndrome (ARS)
Axenfeld-Rieger syndrome (ARS) is a rare genetic disorder that encompasses anterior segment ocular dysgenesis in addition to systemic abnormalities such as dental, cardiac, craniofacial, and ...
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by the formation of fluid-filled sacs (cysts) in the kidneys. Most affected infants have enlarged ...
Autosomal Recessive Hypophosphatemic Rickets type 2
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a skeletal condition that is characterized by rickets, bone pain, bone deformities, increased risk of bone fractures, fatigue, short ...
Autosomal Dominant Hyper IgE Syndrome
Autosomal dominant hyper IgE syndrome (AD-HIES) is a rare multisystem primary immunodeficiency disorder distinguished by the clinical triad of atopic dermatitis, recurrent skin staphylococcal ...
Neonatal Hyperglycemia
Neonatal hyperglycemia is usually defined as serum glucose greater than 150 mg/dl (8.3 mmol/L) or whole blood glucose greater than 125 mg/dl (6.9 mmol/L) irrespective of gestational or ...
Colitis
Colitis is inflammation of the mucosal lining of the colon which may be acute or chronic. Colitis is common and increasing in prevalence worldwide. Patients with colitis present with watery ...
Autoinflammation Infantile Enterocolitis
Autoinflammation with infantile enterocolitis (AIFEC) is a newly identified and extremely rare inflammatory disorder that manifests early in infancy and affects patients throughout adulthood. AIFEC ...
Autoimmune polyglandular syndrome type 1
Autoimmune polyglandular syndrome type 1 (APS-1) is a rare and complex recessively inherited disorder of immune-cell dysfunction with multiple autoimmunities. It presents as a group of symptoms ...
Autoimmune Polyendocrine Syndrome Type II
Autoimmune polyendocrine syndrome type II, also known as Schmidt syndrome, clusters of endocrine abnormalities is a rare autoimmune disorder in which there is a steep drop in the production of ...
Autoimmune Blistering Diseases
Autoimmune blistering diseases are a group of disorders in which the body mistakenly attacks healthy tissue, causing blistering lesions that primarily affect the skin and mucous membranes. In ...
Auditory Neuropathy Spectrum Disorder (ANSD)
Auditory neuropathy spectrum disorder (ANSD) is a newly described condition defined as a sensorineural hearing loss that affects a person’s ability to hear or understand speech. Sensorineural means ...
Atrioventricular Septal Defect (ASVD)
Atrioventricular septal defect (ASVD) is a general term for a group of rare heart defects that are present at birth (congenital). Infants with ASVDs have improperly developed atrial and ventricular ...
Atrial Septal Defects (ASDs)
Atrial septal defects (ASDs) are a group of rare disorders of the heart that are present at birth (congenital) and involve a hole in the wall (septum) that separates the two upper chambers (atria) ...
Atransferrinemia
Atransferrinemia is an extremely rare genetic disorder characterized by low levels of healthy, functional red cells in the blood (hypochromic, microcytic anemia) and by the accumulation of excess ...
ATR-16 Syndrome
ATR-16 syndrome is an extremely rare genetic disorder in which affected individuals have a large loss of genetic material (monosomy) on chromosome 16 in which several adjacent genes are lost. ...
Ataxia With Vitamin E Deficiency (AVED)
Ataxia with vitamin E deficiency (AVED) is a rare inherited neurodegenerative disorder characterized by impaired ability to coordinate voluntary movements (ataxia) and disease of the peripheral ...
Ataxia Telangiectasia
Ataxia-telangiectasia (AT) is also known as (Louis-Bar Syndrome) a complex is a rare autosomal recessive genetic neurodegenerative disorder that is characterized by cutaneous telangiectasias, ...
Astrocytoma
An astrocytoma is a tumor that arises from the star-shaped cells (astrocytes) that form the supportive tissue of the brain. Other supportive cells of the brain include oligodendrocytes and ...
