Adenosine deaminase deficiency (ADA deficiency) is an inherited condition that damages the immune system and is a common cause of severe combined immunodeficiency (SCID). People with SCID due to ADA deficiency are unable to fight off most types of infections, including bacterial, viral and fungal infections. Most people with ADA deficiency develop symptoms before 6…

Paroxysmal nonkinesigenic dyskinesia (PNKD) is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb.[1][2] Symptoms usually last between 1 and 4 hours.[1] The movements may have no known trigger or be brought on by…

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Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body’s immune system mistakenly attacks and destroys its own red blood cells. When affected people’s blood is exposed to cold temperatures (32º to 50º F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to red blood cells and bind…

Nail-patella syndrome causes changes in the nails, elbows, kneecaps (patellae), and hip bone. The most common symptom of the syndrome is having missing or underdeveloped fingernails and toenails. Other symptoms may include having small or missing kneecaps, underdeveloped elbows, and an extra small piece of bone on both sides of the hip (called iliac horns)….

Glycine encephalopathy is an inherited metabolic disease characterized by abnormally high levels of an amino acid called glycine. Glycine is a chemical messenger that transmits signals in the brain.[1][2] According to the symptoms the disease onset, glycine encephalopathy may be divided in:[3][2] Classical neonatal form (most common): Symptoms start within a few days of life and…

Hereditary multiple osteochondromas (HMO), also called hereditary multiple exostoses, is a genetic disorder that causes the development of multiple, cartilage-covered tumors on the external surfaces of bones (osteochondromas). The osteochondromas typically become apparent during childhood or adolescence, and the number, size and location of osteochondromas varies from person to person. Signs and symptoms may include pain,…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 654 Definition A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor. Epidemiology…

Retroperitoneal fibrosis is a slowly progressive disorder in which the tubes that carry urine from the kidneys to the bladder (ureters) and other abdominal organs or vessels become blocked by a fibrous mass and inflammation in the back of the abdomen. The disorder may cause pain in the abdomen that worsens with time, pain or…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 70589 Definition Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83419 Definition Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of…

Homocystinuria due to CBS deficiency is an inherited disorder in which the body is unable to correctly use the amino acid, homocysteine, one of the building blocks of protein.[1][2][3] This form of homocystinuria is caused by a genetic mutation in the CBS gene, which leads to low levels or absence of an enzyme called cystathionine…

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome is a condition that mainly affects the digestive system and nervous system. Signs and symptoms most often begin by age 20 and worsen with time.[1] Almost all people with MNGIE have gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3109 Definition Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as…

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Hereditary angioedema (HAE) is a disease characterized by recurrent episodes (also called attacks) of severe swelling of the skin and mucous membranes.[1] The age at which attacks begin varies, but most people have their first one in childhood or adolescence.[2] The frequency of attacks usually increases after puberty. Attacks most often affect 3 parts of…

Cutaneous Tcell lymphomas (CTCLs) are a group of disorders characterized by an abnormal accumulation of cancerous T-cells (a type of white blood cells) in the skin resulting in an itchy, red rash that can thicken or form a tumor. CTCLs belong to a larger group of disorders known asnon-Hodgkin’s lymphomas. The most common types are mycosis fungoides and Sézary…

Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape. These cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells). The sickle cells also get stuck in blood vessels, blocking blood flow.[1] Signs…

Myotonic dystrophy type 1 (MD1), one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, endocrine system, and central nervous system).[1] MD1 has three forms that somewhat overlap: the mild form, classic form, and congenital form (present at birth). The mild form…

Hermansky-Pudlak syndrome (HPS) affects multiple body systems and includes bleeding and visual problems, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Other symptoms may include immune problems, lung scarring (pulmonary fibrosis), and colitis. Symptoms of pulmonary fibrosis may get worse over time, and people with HPS are at increased risk for skin cancer. There…

Kleine Levin syndrome is a rare disorder characterized by recurrent episodes of excessive sleep (hypersomnia) along with cognitive and behavioral changes. Affected individuals may sleep for up to 20 hours per day during an episode. These episodes usually last for a few days to a few weeks. An episode may start abruptly and is sometimes preceded by an upper-respiratory-type…

Familial pancreatic cancer (FPC) is the occurrence of pancreatic cancer in two or more first-degree relatives (parent and child, or two siblings). It is sometimes referred to as FPC only when there is not a known hereditary cancer syndrome in an affected family.[1] In familial cases, pancreatic cancer often occurs before age 50 (earlier than other forms of…

Pseudocholinesterase deficiency is a condition that causes increased sensitivity to certain muscle relaxant drugs used during general anesthesia (choline esters). These drugs relax the muscles used for movement, including those used for breathing. Normally, the muscles are able to move again a few minutes after the drugs are given. People with pseudocholinesterase deficiency may not be…

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Propionic acidemia is an inherited condition in which the body can’t breakdown certain parts of proteins and fats. This leads to a build-up of toxic substances and to bouts of serious illness called decompensation events or metabolic crises. Symptoms of a decompensation event include poor feeding, vomiting, weak muscle tone (hypotonia), and lack of energy (lethargy)….

Beta-thalassemia is a blood disorder that reduces the body’s production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. People with beta-thalassemia have anemia, which can cause paleness, weakness, fatigue, and more serious complications.[1] There are two main forms of beta-thalassemia,…

Pure autonomic failure (PAF) is a neurodegenerative disease of the autonomic nervous system, which regulates body processes like blood pressure and breathing rate. PAF usually affects only the peripheral autonomic nervous system, which means it does not usually involve the brain and spinal cord (the central nervous system). Symptoms begin in midlife, although they can begin…

Kabuki syndrome is a rare disorder that affects multiple parts of the body. It is present from birth. Specific symptoms and severity can vary. Features often include a characteristic facial appearance; skeletal abnormalities; short stature; heart defects; and intellectual disability.[1][2] Other signs and symptoms may include seizures, microcephaly, weak muscle tone (hypotonia), eye problems, cleft…

Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness and/or…

Microscopic polyangiitis (MPA) is a disorder that causes blood vessel inflammation (vasculitis), which can lead to organ damage.[1] The kidneys, lungs, nerves, skin, and joints are the most commonly affected areas of the body. MPA is diagnosed in people of all ages, all ethnicities, and both genders.[2] The cause of this disorder is unknown.

Moyamoya disease is a rare, progressive, blood vessel disease caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name “moyamoya” means “puff of smoke” in Japanese and describes the look of the tangled vessels that form to compensate for the blockage. This condition usually affects children,…

Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone (hypotonia), and seizures. Other features may include skeletal abnormalities, congenital heart defects, hearing loss, urinary tract malformations, and/or structural brain abnormalities. WHS is caused…

Kearns-Sayre syndrome (KSS) is a neuromuscular disorder defined by the triad of onset before age 20 years, pigmentary retinopathy (a “salt-and-pepper” pigmentation in the retina that can affect vision, but often leaves it intact), and progressive external ophthalmoplegia (PEO).[1][2][3] In addition, affected individuals have at least one of the following: cardiac conduction block, cerebrospinal fluid protein concentration…

Miller Fisher syndrome is a rare acquired nerve disease considered to be a variant of Guillain-Barré syndrome.[1] The main features are lack of muscle coordination (ataxia), eye muscle weakness resulting in the inability to move the eyes in several directions (ophthalmoplegia), and the absence of tendon reflexes. Symptoms often start several days after a viral…

Dyskeratosis congenita affects many parts of the body. Three features are especially characteristic of this disorder: (1) fingernails and toenails that grow poorly or are abnormally shaped; (2) changes in skin coloring (pigmentation), especially on the neck and chest, that resembles the appearance of lace; and (3) white patches inside the mouth (oral leukoplakia). People with dyskeratosis congenita also have…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98808 Definition A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. Epidemiology…

Dermatomyositis is an autoimmune condition that causes skin changes and muscle weakness. Symptoms can include a red skin rash around the eyelids, red bumps around the joints, and muscle weakness in the arms and legs. Dermatomyositis is most common in adults between ages 40 and 60, or in children between ages 5 and 15. Muscle weakness…

Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. The three major features of alkaptonuria are the presence of dark urine, ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, and arthritis of the spine and larger joints. Ochronosis starts after age 30 and…

Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina. People with this condition typically have severe visual impairment beginning in infancy. Other features include photophobia, involuntary movements of the eyes (nystagmus), and extreme farsightedness. The pupils also do not react normally to light. Additionally, the cornea may be cone-shaped and abnormally thin (keratoconus)….

Charcot-Marie-Tooth disease type 1 (CMT1) is a type of peripheral neuropathy, a condition affecting the transmission of information between the central nervous system (brain and spinal cord) and the rest of the body. Symptoms often begin between age 5 and 25, and the condition is usually slowly progressive. Signs and symptoms include distal muscle weakness…

Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occur on the face, neck, and upper torso. Most people with BHDS also have multiple cysts in…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 87503 Definition Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens)….

Cat eye syndrome is a chromosome abnormality that affects many different parts of the body. The signs and symptoms of the condition vary widely but may include abnormalities of the eyes, ears, anal region, heart and/or kidney.[1][2] In people affected by cat eye syndrome, each cell has at least one small extra (duplicate) chromosome made up…

Weill-Marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. People with this syndrome are usually short in height and often have short fingers and limited joint movement, especially of the hands. Weill-Marchesani syndrome also causes problems with the lens of the eye that lead to severe nearsightedness, and it can…

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the…

OEIS complex, also known as cloacal exstrophy, is the most severe birth defect within the exstrophy-epispadias complex. It is characterized by Omphalocele, Exstrophy, Imperforate anus and Spinal defects.[1][2] A child with this condition will have the bladder and a portion of the intestines exposed outside the abdomen with the bony pelvis open like a book. In males, the…

Ornithine transcarbamylase (OTC) deficiency is a genetic disease that causes too much ammonia to accumulate in the blood (hyperammonemia). Ammonia is toxic when levels are too high and especially affects the nervous system. Severe OTC deficiency (the early-onset form) typically affects males (and rarely females) and causes symptoms in the newborn period or early childhood….

Pyruvate kinase deficiency is a genetic blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia).[1] The signs and symptoms of the disease may vary greatly from person to person….

Porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body’s organs. Major types include ALAD deficiency porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria….

Dentatorubral-pallidoluysian atrophy (DRPLA) is a brain disorder that worsens over time. It can lead to involuntary movements, mental and emotional problems, and a decline in thinking ability. Symptoms usually appear around 30 years of age, but can occur anytime from infancy to mid-adulthood. Specific signs and symptoms may differ and include seizures, issues with balance…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 926 Definition A rare congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. Epidemiology The disorder is very rare in the general population with an estimated…

Usher syndrome type 2A is a genetic condition characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. Vision loss is due to retinitis pigmentosa. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision….

Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). SCA7 differs from most other forms of SCA in that visual problems, rather than poor…

Dominant optic atrophy (DOA) is an inherited optic nerve disorder characterized by degeneration of the optic nerves.[1][2] It typically starts during the first decade of life. Affected people usually develop moderate visual loss and color vision defects. The severity varies and visual acuity can range from normal to legal blindness. About 20% of people with…

Hirschsprung disease (HSCR) is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to pass stools from the body normally. Symptoms of Hirschsprung disease usually start in very young children, but may occur later. The symptoms may vary with age, but often involve…

Glutaric acidemia type II (GA2) is a disorder that interferes with the body’s ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be born…

Unverricht-Lundborg disease (ULD) is an inherited form of progressive myoclonus epilepsy, a neurodegenerative disorder. Signs and symptoms typically begin during childhood or adolescence and worsen over time. Early symptoms include involuntary muscle jerking or twitching (stimulus-sensitive myoclonus) and tonic-clonic seizures. Episodes of myoclonus may be brought on by exercise, stress, light, or other stimuli (triggers). Over…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1199 Definition Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea. Epidemiology OA occurs in 1 in 2500…

Progressive pseudorheumatoid disyplasia (PPD) is a disorder of bone and cartilage that affects many joints. It manifests between the age of 3 and 6 years with joint pain and progressive joint stiffness. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular…

Evans syndrome is a very rare autoimmune disorder in which the immune system destroys the body’s red blood cells, white blood cells and/or platelets. Affected people often experience thrombocytopenia (too few platelets) and Coombs’ positive hemolytic anemia (premature destruction of red blood cells). Signs and symptoms may include purpura, paleness, fatigue, and light-headedness. The exact…

Hemophilia is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99013 Definition A form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the…

A giant congenital nevus is a dark-colored, often hairy patch of skin that is present at birth (congenital). It grows proportionally to the child. A congenital pigmented nevus is considered giant if by adulthood it is larger than 20cm (about 8 inches) in diameter.[1][2] Giant congenital nevi can occur in people of any racial or ethnic background and…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93930 Definition A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal…

Incontinentia pigmenti (IP) is a genetic condition that affects the skin and other body systems. Skin symptoms change with time and begin with a blistering rash in infancy, followed by wart-like skin growths. The growths become swirled grey or brown patches in childhood, and then swirled light patches in adulthood. Other signs and symptoms may include hair loss, small or missing teeth, eye…

Buerger disease is a disease in which small and medium-sized blood vessels in the arms and/or legs become inflamed and blocked (vasculitis).[1][2] This reduces blood flow to affected areas of the body, eventually resulting damage to tissues.[1] Symptoms of Buerger disease may include coldness, numbness, tingling or burning, and pain. Symptoms may first be felt…

Lymphatic malformations or lymphangiomas are benign (non-cancerous) vascular lesions made of fluid-filled spaces (cysts) thought to occur due to abnormal development of the lymphatic system.[1] In general, lymphatic malformations are categorized into macrocystic, microcystic, or combined depending on the size of the cysts; they are also classified in superficial lesions known as lymphangioma circumscriptum, and more deep-seated lesions…

Mastocytosis occurs when too many mast cells accumulate in the skin and/or internal organs such as the liver, spleen, bone marrow, and small intestines. Mast cells are a type of white blood cell in the immune system. Mast cells are responsible for protecting the body from infection and releasing chemicals to create inflammatory responses.[1] The signs and symptoms of mastocytosis vary based…

Congenital hyperinsulinism is a disease where there are abnormally high levels of insulin, a hormone produced by the beta cells of the pancreas that helps control blood sugar levels. Because of the high levels of insulin, people with this disease have frequent episodes of low blood sugar (hypoglycemia) that can even occur after eating. In…

Neurocutaneous melanosis (NCM) is a rare, noninherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain.[1][2] Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions.[1] The typical cutaneous lesions are present at birth….

Chronic hiccups are repeated, unintentional contractions of the breathing muscles that continue for a long period of time. Regular hiccups often develop after eating a large meal or drinking a carbonated beverage, and they typically go away on their own after a couple minutes. Chronic hiccups last over two days and in rare cases, may…

Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with…

Polyarteritis nodosa (PAN) is a blood vessel disease characterized by inflammation of small and medium-sized arteries (vasculitis), preventing them from bringing oxygen and food to organs.[1][2] Most cases occur in the 4th or 5th decade of life, although it can occur at any age.[3] PAN most commonly affects vessels related to the skin, joints, peripheral nerves,…

Polymyositis is a type of inflammatory myopathy, which refers to a group of muscle diseases characterized by chronic muscle inflammation and weakness. The muscles affected by polymyositis are the skeletal muscles (those involved with making movements) on both sides of the body. Although the disease can affect people of all ages, most cases are seen in adults between…

Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone without other hormonal problems. Growth hormone is a protein necessary for normal growth of the bone and body tissues. Because people with this condition don’t have enough of this hormone, they have short stature, which is noticeable from…

Factor VII deficiency is a rare bleeding disorder. The age of onset and severity varies from person to person. While severe cases may become apparent in infancy, very mild cases may never cause any bleeding problems. Signs and symptoms may include nosebleeds; easy bruising; bleeding gums; excessive or prolonged bleeding after injury or surgery; and…

Acute interstitial pneumonia (AIP) is a rare and serious condition that affects the lungs. The signs and symptoms generally develop and progress rapidly. In the early stages of the condition, affected people may experience upper respiratory and/or viral-like symptoms such as cough, shortness of breath, and fever. This is followed by the rapid onset of…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 212 Definition Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition…

Blue cone monochromatism is an inherited vision disorder. In this condition, the light sensitive cells in the eye used for color vision (cones) are affected. There are three types of cones that respond to one of three colors: red, green, and blue. When people have blue cone monochromatism, both the red and green cones do…

Pigmented villonodular synovitis (PVNS) is a disease in which the tissue lining the joints and tendons in the body (synovium) grows abnormally. It is characterized by a noncancerous mass or tumor. There are two types of PVNS: the local or nodular form (where the tumor involves the tendons that support the joint, or in one area…

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Familial adenomatous polyposis (FAP) leads to the growth of hundreds to thousands of non-cancerous (benign) polyps in the colon and rectum. Overtime, the polyps can become cancerous (malignant), leading to colorectal cancer at an average age of 39 years. Symptoms of FAP may include dental abnormalities, tumors of the connective tissue (desmoid tumors), and benign…

Paroxysmal kinesigenic choreoathetosis involves episodes of irregular jerking or shaking movements that are induced by sudden motion, such as standing up quickly or being startled.[1] Cold, hyperventilation, and mental tension have also been reported to trigger attacks in some cases.[2] The exact type of abnormal movement varies among affected individuals but may include prolonged muscle contractions,…

Emery-Dreifuss muscular dystrophy is a condition that affects the joints, muscles, and heart. Joint symptoms tend to present in childhood and involve contractures of the elbows, ankles, and neck. Children and adults with this dystrophy usually experience slowly worsening muscle weakness and wasting. By adulthood, most people with Emery-Dreifuss muscular dystrophy develop heart problems, such as conduction defects and arrhythmias. Emery-Dreifuss muscular dystrophy is caused…

Giant cell arteritis (GCA) is a form of vasculitis, a group of disorders that cause inflammation of blood vessels. GCA most commonly affects the arteries of the head (especially the temporal arteries, located on each side of the head), but arteries in other areas of the body can also become inflamed. The inflammation causes the…

Larsen syndrome is a disorder of the development of the bones. Signs and symptoms may include clubfoot and numerous joint dislocations at birth (affecting the hips, knees and elbows); flexible joints; and a distinctive appearance of the face, hands, feet, and fingers, with square-shape finger tips. The X-rays usually show small extra bones in their…

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Becker muscular dystrophy (BMD) is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles. It primarily affects males.[1][2] The age of onset and rate of progression can vary. Muscle weakness usually becomes apparent between the ages of 5 and 15. In some cases, heart involvement (cardiomyopathy) is the…

Multiple myeloma is a form of cancer that occurs due to abnormal and uncontrolled growth of plasma cells in the bone marrow. Some people with multiple myeloma, especially those with early stages of the condition, have no concerning signs or symptoms. When present, the most common symptom is anemia, which can be associated with fatigue…

Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles (the muscles used for movement). Affected individuals show severe muscle weakness soon after birth, develop stiff joints (contractures) in their knees and elbows, and may have an unusual range of movement (hypermobility) in their wrists and ankles. This condition is caused by mutations…

Mercury poisoning is a condition that occurs in people who are exposed to toxic levels of the element, mercury. There are three different forms of mercury that can cause health problems: Elemental mercury (also known as liquid mercury or quicksilver) can be found in glass thermometers, electrical switches, dental fillings and fluorescent light bulbs. This…

Cone-rod dystrophy (CRD) is a group of inherited eye disorders that affect the light sensitive cells of the retina called the cones and rods. People with this condition experience vision loss over time as the cones and rods deteriorate.[1][2] Initial signs and symptoms that usually occur in childhood may include decreased sharpness of vision (visual acuity)…

Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris) and is usually associated with foveal hypoplasia (underdevelopment of the part of the eye responsible for sharp central vision). This combination can lead to decreased visual acuity and involuntary eye movements (nystagmus) in affected infants. People…

Fanconi anemia (FA) affects the way genetic information (DNA) is copied and repaired. FA leads to bone marrow failure, skeletal abnormalities, and an increased risk for cancer. People with FA have a decreased number of red blood cells, white blood cells, and platelets leading to anemia, frequent infections, and excessive bleeding. In addition, people with FA…

Aplasia cutis congenita is a condition in which there is congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone.[1] It most commonly affects the scalp, but any location of the body can be affected.[2] While most people with aplasia cutis congenita have no other abnormalities, some people…

Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine.[1] Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, “slapping” gait (feet hit…

Mucopolysaccharidosis type IIIA (MPS IIIA) is a severe, progressive disorder that affects the central nervous system.[1] In people with MPS IIIA, the body cannot break down a large sugar molecule called heparin sulfate.[2][3] Signs and symptoms usually begin in early childhood and include severe neurological symptoms such as progressive dementia, aggressive behavior, hyperactivity, seizures, deafness,…

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Isovaleric acidemia (IVA) occurs when the body cannot breakdown certain parts of the proteins found in food. This can cause a build-up of toxic substances which can lead to bouts of serious illness known as metabolic crises. There are two types of IVA. The acute, neonatal type has more severe symptoms that begin in the…

Spinocerebellar ataxia type 1 (SCA1) is a progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms includes problems with coordination and balance (ataxia), speech and swallowing difficulties, muscle stiffness, and weakness in the muscles that control eye movement. Over time, SCA1 may…