Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings.[1] Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the…

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Craniosynostosis is the premature closure of one or more of the joints that connect the bones of a baby’s skull (cranial sutures). Normally, the bones remain separate until about age 2, while the brain is growing. They then fuse together and stay connected throughout life. The closure is premature when it occurs before brain growth…

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Black hairy tongue is a relatively common condition in which the the central top portion of the tongue presents with an abnormal coloring and coating. Although the abnormal coating is typically black in color, brown, yellow, and green discoloration have been described. Individuals with black hairy tongue usually do not have symptoms, although occasionally there…

Culler-Jones syndrome is a rare disease characterized by pituitary anomalies resulting in hypopituitarism, presence of extra fingers (polydactyly) and unusual facial features.[1] Symptoms related to the hypopituitarism may include abdominal pain, decreased appetite, short stature, delayed bone age, diabetes insipidus, slowed growth and sexual development, undescended testis (cryptorchidism) and small penis (hypogonadotropic hypogonadism). Facial features…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2994 Definition Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171886 Definition Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1568 Definition X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and…

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Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of systemic scleroderma (systemic sclerosis) characterized by skin hardening (fibrosis) and problems in many organs of the body. The disease can occur at any age but mainly affects people between 40 and 50 years of age. Symptoms include Raynaud’s phenomenon; skin fibrosis beginning on the fingers and face…

Prune belly syndrome (PBS) is a condition characterized by a lack of abdominal muscles, causing the skin on the abdominal area to wrinkle and appear “prune-like”; undescended testicles in males; and urinary tract malformations. PBS is more common in males. The severity of symptoms can vary greatly from person to person. At one end of the spectrum,…

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12q14 microdeletion syndrome is a genetic syndrome caused by a missing piece of chromosome 12. The signs and symptoms depend on the size of the missing piece and the genes involved, but generally include growth delay, short stature and feeding difficulties. When this syndrome is inherited, it is passed on in a dominant pattern. It…

An acanthoma is a small, reddish bump that usually develops on the skin of an older adult. There are several types of acanthoma, including “acantholytic”, “epidermolytic”, “clear cell“, and “melanoacanthoma”.[1] Though most individuals have only one acanthoma, there have been rare reports of individuals who have developed many. The exact cause of acanthoma is not known; it…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86920 Definition A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia,…

Adult-onset immunodeficiency with antiinterferon-gamma autoantibodies is an immunodeficiency disorder. It is associated with susceptibility to disseminated infections (dispersed throughout the body) caused by organisms that typically affect only people with weak immune systems (opportunistic pathogens).[1] People with this disorder produce higher amounts of anti-interferon-gamma autoantibodies. These are specific immune system proteins that mistakenly target a person’s…

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Acquired hemophilia A is a bleeding disorder that interferes with the body’s blood clotting process. Although the condition can affect people of all ages, it generally occurs in older people (the median age of diagnosis is between 60 and 67 years). Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2202 Definition Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 968 Definition A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal…

Lupus is an autoimmune disease that can affect almost every organ in the body. Symptoms of lupus can range from very mild to life-threatening. There are three main types of lupus; systemic lupus erythematosus, discoid lupus, and drug-induced lupus.[1] Symptoms may include pain or swelling in joints, muscle pain, fever, red rashes, most often on the face (also…

Actinomycosis is a bacterial infection that occurs most often in the face and neck. Symptoms of actinomycosis include a neck mass, jaw or face pain, and formation of pockets of pus (abscess). When actinomycosis occurs in other parts of the body, symptoms can include cough, chest or stomach pain, fever, and weight loss. It is…

Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include “whitening of vision” or blurred vision. Although anyone can be…

Adenylosuccinase deficiency impacts the way the body breaks down certain chemicals and results in damage to the nervous system. There are several types of adenylosuccinase deficiency. Symptoms vary greatly from person to person. In general, adenylosuccinase deficiency causes intellectual and movement disabilities, autistic features, epilepsy, low muscle tone, and feeding problems. In the most severe form…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2228 Definition Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia. Epidemiology Its incidence has been estimated at around 1-2 in 10,000. Clinical description The primary teeth are usually normal but the permanent teeth often…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3086 Definition A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the…

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Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. The new classification, from 2017, includes 13 subtypes of EDS. Although other forms of the condition may exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 998 Definition A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness…

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Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. Treatment includes regular visits to the doctor to monitor growth and intellectual…

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Erythema nodosum (EN) is a skin condition in which red bumps (nodules) form on the shins. Less commonly, the nodules form on other areas of the body such as the thighs and forearms.[1][2] The lesions begin as firm, hot, red, painful lumps and progress to a purplish color.[1] EN is a type of inflammatory disorder…

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Annular lichen planus (LP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In annular LP, specifically, affected people develop ring-shaped, slightly raised, purple lesions with no central atrophy (tissue breakdown). Purely annular LP is very rare; however, annular lesions occur in approximately 10% of all cases of lichen…

Mondini dysplasia is a type of inner ear malformation that is present at birth (congenital). Individuals with Mondini dysplasia have one and a half coils of the cochlea instead of the normal two coils.[1] It may occur in one ear (unilateral) or both ears (bilateral) and can cause varying degrees of sensorineural hearing loss, although most individuals…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 293 Definition Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2867 Definition This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism. Epidemiology It has been described in two members from the same family. Visit the…

Danon disease is a rare genetic condition characterized by weakening of the heart muscle (cardiomyopathy), weakening of the muscles used for movement (skeletal muscles myopathy), and intellectual disability.[1][2] This condition is a type of lysosomal storage disorder.[3] Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell…

Autoimmune polyglandular syndrome (APS) type 3 is an autoimmune condition that affects the body’s endocrine glands. The syndrome, which typically affects women during middle age, results from failure of the glands to produce their hormones. This condition is characterized by autoimmune thyroiditis along with another organ-specific autoimmune disease.[1][2][3] The other autoimmune diseases may include diabetes mellitus, pernicious anemia, vitiligo, alopecia,…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 402041 Definition An inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed….

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2378 Definition Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes…

Freeman-Sheldon syndrome (FSS) affects the development of the bones, joints, head, and face. Symptoms of FSS are present from birth, and include abnormally flexed joints (joint contractures), spine abnormalities, and a characteristic facial appearance. People with FSS have a small mouth (microstomia) with pursed lips, giving the appearance of a “whistling face”. In addition, they may…

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Odontotrichomelic syndrome is a very rare ectodermal dysplasia affecting the hair, teeth, and nails and all four extremities.[1][2] The main problems are malformations of all the extremities including absence of several bones in the hands and feet, abnormal teeth, and sparse hair (hypotrichosis). Other signs and symptoms may include: very small or undeveloped (hypoplastic) nails;…

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Gangliocytoma is a rare type of central nervous system (CNS) tumor made up of mature neurons. Gangliocytomas may occur in all age groups but most often occur in people between the ages of 10 and 30. The most common site is the temporal lobe of the brain, but they can arise anywhere in the CNS…

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Autoimmune atrophic gastritis is a chronic inflammatory disease in which the immune system mistakenly destroys a special type of cell (parietal cells) in the stomach. Parietal cells make stomach acid (gastric acid) and a substance our body needs to help absorb vitamin B12 (called intrinsic factor). The progressive loss of parietal cells may lead to iron deficiency…

Gigantism is abnormally large growth due to an excess of growth hormone (GH) during childhood, before the bone growth plates have closed (epiphyseal fusion). It causes excessive growth in height, muscles, and organs, making the child extremely large for his or her age. Other symptoms may include delayed puberty; double vision or difficulty with side (peripheral) vision; prominent forehead (frontal…

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Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However,…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 381 Definition Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79332 Definition B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with…

Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their…

Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral…

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Juvenile Paget disease is a very rare condition that affects bone growth. This condition causes bones to be abnormally large, misshapen, and easily broken (fractured). Signs and symptoms usually appear in infancy or early childhood. As bones grow, they become weaker and more deformed. This condition affects the entire skeleton, resulting in widespread bone and…

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Von Willebrand disease is a bleeding disorder that slows the blood clotting process. People with this disease often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, affer surgery, or having a tooth pulled. Affected women may have heavy menstrual bleeding. In severe cases, heavy bleeding occurs after minor injury or even in…

BENTA disease (B cell Expansion with NF-κB and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1208 Definition Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum…

Kikuchi disease is a benign (non-cancerous) condition of the lymph nodes. The main symptoms include swollen lymph nodes in the neck, mild fever, and night sweats. Less common symptoms include weight loss, nausea, vomiting, and sore throat. While the exact cause of this condition is unknown, infectious and autoimmune causes have been suggested. Kikuchi disease usually…

Pick’s disease is a neurological condition characterized by a slowly progressive deterioration of behavior, personality, or language.[1] People with Pick’s disease have abnormal substances (called Pick bodies) inside nerve cells in the damaged areas of the brain. Pick bodies contain an abnormal form of a protein called tau. This protein is found in all nerve cells, but…

Rare lichen planus (rare LP) refers to several rare variants of lichen planus, which is a condition that affects the skin and/or mouth. The signs and symptoms vary by subtype but generally include an itchy rash. In most cases, the exact underlying cause of rare LP is unknown; however, studies suggest that it may be…

Hypoparathyroidismintellectual disability-dysmorphism syndrome is a genetic disorder present from birth (congenital) characterized by multiple anomalies and intellectual disability. Symptoms may include: hypoparathyroidism, delayed growth (growth restriction), seizures, microcephaly (small head size), differences in development of the face, eyes, and teeth, and shortened hands and feet. It is caused by mutations in the TBCE gene and is inherited…

Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected.[1] BVMD is characterized…

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Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses.[1] Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. [2][3] Symptoms may include fever, runny nose, and cough. HPIV-3 can also…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3124 Definition Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria. Epidemiology The prevalence is unknown. Clinical description The few patients with saccharopinuria have been investigated largely because of neurological problems including…

IgG4-related disease is an immune-mediated condition that can affect multiple organ systems.[1][2][3][4] Common features include IgG4-related autoimmune pancreatitis, swelling of or within an organ system (an inflammatory pseudotumor), salivary gland disease (which can lead to enlargement of the salivary glands), swollen lymph nodes (lymphadenopathy), skin manifestations, and symptoms consistent with allergies or asthma. The cause…

Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, include a diminished ability to visually recognize objects, loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes…

Sarcoidosis is an inflammatory disease characterized by the development and growth of tiny lumps of cells called granulomas. If these tiny granulomas grow and clump together in an organ, they can affect the organ’s structure and function. Overtime, this can lead to permanent scarring or thickening of the organ tissue (also called fibrosis). Although the…

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Superior semicircular canal dehiscence syndrome is a rare balance disorder characterized by auditory and/or vestibular symptoms. These might include dizziness and vertigo triggered by heavy lifting, straining, coughing or loud sounds that change the middle ear or intracranial pressure, fullness in the ear, autophony (an echo or reverberation in the ear when speaking, chewing or…

Pallister-Hall syndrome (PHS) is a genetic disease that affects the development of many parts of the body. Common features include extra fingers and/or toes (polydactyly), extra skin between the fingers or toes (syndactyly), an abnormal growth in the brain called a hypothalamic hamartoma, and a malformation of the airway known as bifid epiglottis.[1] The bifid epiglottis in rare cases may…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2050 Definition An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and…