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Limited systemic sclerosis
Limited systemic sclerosis (also known as sine scleroderma) is a type of systemic scleroderma that is characterized by Raynaud’s phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin.[1][2][3] While the exact cause of limited systemic sclerosis is unknown, it is believed to originate from an autoimmune reaction which leads to…
Cutaneous collagenous vasculopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280779 Definition Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias. Epidemiology It is a rare disorder with less than 20 cases reported in the literature…
Localized hypertrophic neuropathy
Localized hypertrophic neuropathy is a nerve condition in which nerve cells increase in number and form bundles that look like onion bulbs. This condition affects one nerve, usually in an arm or leg. The symptoms of this condition include muscle weakness, numbness, and decreased reflexes in the affected limb. Symptoms slowly get worse over time.[1] The cause…
CDKL5 deficiency disorder
CDKL5 deficiency disorder is a genetic disorder that causes seizures, developmental delay, and severe intellectual disability. Seizures typically begin within a few months after birth and are difficult to control with medications. Most children have 1 to 5 seizures every day. Other symptoms include problems with sleeping, feeding, and teeth grinding. Gastrointestinal symptoms are also…
Central pontine myelinolysis
Central pontine myelinolysis (CPM) is a neurological disorder that most frequently occurs when sodium deficiency is treated too rapidly. The part of the brain called the pons is especially sensitive and too much sodium can damage nerve fibers. Initial signs and symptoms appear within two to three days and include a depressed level of awareness,…
CODAS syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1458 Definition Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. Epidemiology To date, three affected children (an unrelated Canadian girl and boy of Mennonite descent, and…
Cervical dystonia
Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia). Most commonly, the head turns to one side or the other. Tilting sideways, or to the back or front may also occur.[1][2] The turning or tilting movements may be accompanied by shaking movement…
Periodic fever, aphthous stomatitis, pharyngitis and adenitis
Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is a periodic disease, which is a heterogeneous group of disorders characterized by short episodes of illness that regularly recur for several years alternated with healthy periods.[1] PFAPA is characterized by high fevers lasting three to six days and recurring every 21 to 28 days, accompanied by some or all…
Children’s interstitial lung disease
Children’s interstitial and diffuse lung disease (chILD) is not a single condition, but a group of rare lung diseases found in infants, children and adolescents that can range from mild to severe[1]. All types of chILD decrease a child’s ability to supply oxygen to their body. These diseases make it difficult for the lungs to…
Gilbert syndrome
Gilbert syndrome is a mild liver disorder that impairs the body’s ability to process bilirubin, a substance made when old red blood cells are broken down. This leads to fluctuating levels of bilirubin in the blood, sometimes causing levels to be high (hyperbilirubinemia).[1] Most people with Gilbert syndrome do not have symptoms or have mild jaundice….
Tietze syndrome
Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage around the ribs. Specifically, people with Tietze syndrome have swelling of the cartilage that joins the upper ribs to the breastbone. This is called the costochondral junction. Signs and symptoms of this condition usually develop in people who are under…
Metaphyseal dysplasia maxillary hypoplasia brachydactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2504 Definition Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth…
Ring chromosome 13
Ring chromosome 13 is a rare chromosome abnormality in which the ends of chromosome 13 join together to form a ring shape. When a ring forms, there may be missing genes where the chromosome’s ends fuse together. Therefore, the severity and symptoms associated with ring chromosome 13 vary from person to person, depending on the…
Ring chromosome 2
Ring chromosome 2 is a very rare chromosome abnormality in which the ends of chromosome 2 join together to form a ring shape. The severity and symptoms associated with ring chromosome 2 vary from person to person. Slow growth, short stature and a small head size are common features, but people with ring chromosome 2 may…
Morphea
Morphea is a skin condition that causes patches of reddish skin that thicken into firm, oval-shaped areas. It is a form of scleroderma. Patches most often occur on the abdomen, stomach, and back, and sometimes on the face, arms and legs.[1][2] Morphea is classified according to the localization of the lesions and the depth of tissue involvement into…
Chromosome 3q deletion
Chromosome 3q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often…
Multiple sclerosis
Multiple sclerosis (MS) is a degenerative disorder that affects the central nervous system, specifically the brain and the spinal cord. The disorder is characterized by destruction of the myelin, the fatty tissue that surrounds and protects the nerve fibers and promotes the transmission of nerve impulses, and damage to nerve cells. The symptoms vary widely from person to…
Chromosome 7q duplication
Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in…
Myostatin-related muscle hypertrophy
Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal….
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic…
Nevus of Ito
Nevus of Ito is a colored birth mark that is usually slate-brown or blue/gray. It is an unusual birthmark in which the melanocytes (pigment cells) are found deeper than normal in the skin. This type of birthmark is usually located on the shoulder and upper arm area on one side of the body. It can…
Crane-Heise syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1512 Definition Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Epidemiology Nine cases have been reported in the literature so far. Clinical description Dysmorphic…
Notalgia paresthetica
Notalgia paresthetica is a common chronic, localized itch, that usually affects patches of skin on the upper back. Occasionally it can be more widespread and involve other parts of the back, the shoulders and upper chest. People feel both the sensation of an itch and paresthesia (a sensation of tingling, pricking, or numbness of the skin). There are no signs…
Orofaciodigital syndrome 9
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 141007 Definition Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid…
Cobb syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 53721 Definition Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve…
Omphalomesenteric cyst
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 490 Definition A rare non-syndromic diaphragmatic or abdominal wall malformation, a remnant of omphalomesenteric duct, characterized by cuboidal or columnar epithelium with gastrointestinal differentiation. Patients may be asymptomatic or present with infraumbilical mass, umbilical lesion…
Complement component 2 deficiency
Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions…
Pili torti onychodysplasia
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Pallister W syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2804 Definition W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears…
Pitt-Hopkins-like syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221150 Definition Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism…
Polysyndactyly cardiac malformation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2934 Definition Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart)….
Congenital rubella
Congenital rubella refers to the group of birth defects that occur in an infant whose mother is infected with the virus that causes German measles (rubella) during pregnancy. Congenital rubella occurs when the rubella virus in the mother affects the developing baby in the first 3 months of pregnancy. After the fourth month, if the…
Propriospinal myoclonus
Propriospinal myoclonus (PSM) is a rare movement disorder first described in 1991. It is characterized by painless, repetitive jerking of the trunk, neck, hips, and knees. The jerking may be spontaneous but may also occur in response to a stimulus. The jerking often gets worse when the person is lying down. In some cases, a…
Congenital sucrase-isomaltase deficiency
Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person’s ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume…
Pulmonary vein stenosis
Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing of…
Menkes disease
Menkes disease (MD) is an inherited condition that impacts the way the body processes copper levels in the body. MD primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time. Symptoms of MD usually appear within the first few months of life and include sparse, kinky hair; slow…
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 300570 Definition A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial…
Rocky mountain spotted fever
Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever,…
Temtamy syndrome
Temtamy syndrome is a developmental neurological disorder, meaning that it affects the way the brain is formed and how well it functions. In most cases, the bundle of nerve fibers (the corpus callosum) that connects the two sides of the brain is partially or completely missing. Other symptoms may include seizures, changes in the size or function of…
Cryoglobulinemic vasculitis
Cryoglobulinemic vasculitis occurs when the body makes a mix of abnormal immune system proteins called cryoglobulins. At temperatures less than 98.6 degrees Fahrenheit (normal body temperature), cryoglobulins become solid or gel-like and can block blood vessels. This causes a variety of health problems. Many people with cryoglobulins will not experience any symptoms. When symptoms occur, they…
Spinocerebellar ataxia 30
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White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
White matter hypoplasiacorpus callosum agenesisintellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, widely spaced eyes (hypertelorism), and a very small chin (micrognathia); failure to thrive; severe intellectual disability; and lack of muscle tone (hypotonia). Exams…
Semantic dementia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100069 Definition Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or…
Cysticercosis
Cysticercosis is an infection caused by the pork tapeworm, Taenia solium. The condition develops when tapeworm eggs, which can be found in contaminated food, enter the body and form cysticeri (cysts). In most cases, the worms stay in the muscles and do not cause symptoms. However, symptoms may be present when the infection is found…
Holt-Oram syndrome
Holt-Oram syndrome affects the bones of the hands and arms and may also affect the heart. People with Holt-Oram syndrome have at least one bone in the wrist that did not form (develop) normally. Other bones in the hands, arms, and shoulder may also have developed abnormally. Many of these developmental changes in the bones can…
Split hand/foot malformation X-linked
Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits.[1][2] The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing…
Spondylometaepiphyseal dysplasia short limb-hand type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93358 Definition Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed…
New-onset refractory status epilepticus
New-onset refractory status epilepticus (NORSE) occurs when a person without a previous history of seizures, experiences status epilepticus (SE) without a clear cause. SE describes a state in which a person has one prolonged seizure, or a cluster of seizures without recovery time in between.[1][2][3] The symptoms of NORSE typically begin with a mild fever and general symptoms…
Marshall syndrome
Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial.[1] Marshall syndrome is caused by mutations in the COL11A1 gene and…
Tibia absent polydactyly arachnoid cyst
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3328 Definition Tibia absent polydactyly arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. Epidemiology It has been described in 3 sibs (two males and one…
Split hand split foot malformation autosomal recessive
Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits.[1][2] The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing…
Syndactyly type 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93406 Definition Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. Epidemiology So far,…
Denys-Drash syndrome
Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Kidney disease typically begins in the first few months of life, often leading to kidney failure in childhood. In addition, up to 90 percent of people with this condition develop a rare form of kidney cancer known as Wilms tumor. Males with Denys-Drash syndrome…
Acrofacial dysostosis Catania type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1786 Definition A very rare acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow’s peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild preand postaxial limb hypoplasia with brachydactyly, mild interdigital…
Tracheoesophageal fistula
Tracheoesophageal fistula (TEF) is a life-threatening condition in which there is an abnormal connection between the esophagus and trachea (windpipe). The esophagus and trachea run next to each other through the chest cavity. The esophagus carries food and saliva to the stomach, while the trachea carries air to the lungs. TEF can lead to severe…
Trichoodontoonychial dysplasia
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Naguib-Richieri-Costa syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2211 Definition Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Epidemiology It has been described in three families. Clinical description Craniofacial manifestations include wide anterior fontanel, flat occiput, hypertelorism,…
Diphallia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 227 Definition A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two…
Acute respiratory distress syndrome
Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that prevents enough oxygen from getting to the lungs and into the blood. [1] People who develop ARDS often are very ill with another disease or have major injuries.[2] The condition leads to a buildup of fluid in the air sacs which prevents enough oxygen from passing into the bloodstream….
46, XY disorders of sexual development
A 46, XY disorder of sex development (DSD) is a condition in which an individual with one X chromosome and one Y chromosome in each cell, the pattern normally found in males, have genitalia that is not clearly male or female. Infants with this condition tend to have penoscrotal hypospadias, abnormal development of the testes, and…
Duarte Galactosemia
Duarte galactosemia is a mild variant of classic galactosemia, a condition that affects how the body processes galactose (a simple sugar found in milk, dairy products, and other foods). Unlike the other forms of galactosemia, most affected infants do not develop any concerning signs or symptoms even when breastfed or on a galactose-containing formula. Some…
Qazi Markouizos syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3010 Definition A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance…
Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations (ADTKD–UMOD) is an inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and…
Meier-Gorlin syndrome
Meier-Gorlin syndrome (MGS) is a very rare inherited condition characterized by very small ears and ear canals, short stature, and absent or very small kneecaps (patellae).[1][2][3] Other signs and symptoms can include hearing loss, feeding problems, respiratory tract abnormalities, small chin, and small head size. People with MGS may also have characteristic facial features including…
Syndromic microphthalmia, type 3
Syndromic microphthalmia, type 3 is a rare condition that affects the eyes and other parts of the body. Babies with this condition are generally born without eyeballs (anophthalmia) or with eyes that are unusually small (microphthalmia). Both of these abnormalities can be associated with severe vision loss. Other signs and symptoms of syndromic microphthalmia, type…
Early infantile epileptic encephalopathy 4
Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms may include intellectual disability, reduced…
Isolated ectopia lentis
Isolated ectopia lentis (IEL) is a genetic disorder that affects the positioning of the lens in the eyes. In individuals with IEL, the lens in one or both of the eyes is off-center. Symptoms of IOL usually present in childhood and may include vision problems such as nearsightedness (myopia), blurred vision (astigmatism), clouding of the…
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