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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 252050 Definition Primary melanoma of the central nervous system is a rare tumor of meninges arising from leptomeningeal melanocytes, typically in the perimedullary or high cervical region, in the absence of melanoma outside the CNS….

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 226298 Definition Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 52530 Definition Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD…

Mycobacterium avium complex (MAC) refers to infections caused by two types of bacteria: Mycobacterium avium and Mycobacterium intracellulare.[1][2] MAC bacteria do not make most people sick. However, people with immune systems that do not work well (from HIV/AIDS or certain cancers for example) or people with lung disease (such as chronic obstructive pulmonary disease (COPD) or cystic…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99953 Definition Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia,…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3434 Definition The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM; see this term). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported….

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171439 Definition Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction. Epidemiology The annual incidence…

2-methylbutyryl-CoA dehydrogenase deficiency is an organic acid disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. The buildup can cause a variety of…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280586 Definition Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly,…

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Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101004 Definition A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild…

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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…

Spontaneous coronary artery dissection (SCAD) is a condition in which blood accumulates between the layers of tissue that make up the wall of the coronary artery (the vessel that supplies blood to the heart). The trapped blood then creates a blockage which interferes with blood flow to the heart. Depending on the degree of blockage,…

Chromosome 6q 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 6. 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…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 254346 Definition 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Epidemiology It has been reported in 6…

Nonalcoholic steatohepatitis, or NASH, is a common, often “silent” liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage. Most people with NASH feel well and are not aware that they have a…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101028 Definition Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. Epidemiology…

Hemochromatosis type 1 is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. Early symptoms…

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Ulcerative proctitis is a type of ulcerative colitis that affects the rectum. The symptoms of this form of proctitis may include bleeding from the rectum, the need to go to the bathroom frequently, tenesmus, diarrhea or constipation, and rectal pain. People with ulcerative proctitis tend to have episodes when the symptoms worsen and periods without symptoms,…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2736 Definition Lethal omphalocelecleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had…

Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can be acquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or…

Virus associated hemophagocytic syndrome is a very serious complication of a viral infection. Signs and symptoms of virus associated hemophagocytic syndrome, include high fever, liver problems, enlarged liver and spleen, coagulation factor abnormalities, decreased red or white blood cells and platelets (pancytopenia), and a build-up of histiocytes, a type of immune cell, in various tissues in the body resulting…

Cutis marmorata telangiectatica congenita (CMTC) is a birth defect involving the skin and blood vessels. It is characterized by patches of marbled-looking skin (cutis marmarota), small widened blood vessels under the skin (telangiectasia) and varicose veins (phlebectasia).[1][2] The skin findings most often occur on the legs, but may also occur on the arms and trunk. The face…

Potter sequence refers to a group of features that can result when there is too little amniotic fluid (oligohydramnios) surrounding a baby while in the uterus. This can cause distinct facial features (Potter facies), which may include a flattened nose, recessed chin, skin folds covering the corners of the eyes (epicanthal folds), and low-set abnormal…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3055 Definition X-linked intellectual disabilityhypogonadism-ichthyosis-obesityshort stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further…

Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet….

Oral lichen planus is a inflammatory condition that affects the inside of the mouth. Signs and symptoms include patches of fine white lines and dots most commonly in the inside of the cheeks, gums, and/or tongue. Most people with lichen planus experience no to few symptoms, others may have painful sores or ulcers in the mouth. Severe lichen…

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Papular epidermal nevus with “skyline” basal cell layer syndrome (PENS) is a very rare type of keratinocytic epidermal nevi that includes a specific type of skin lesion and can be associated with other birth defects and neurological problems.[1][2][3][4][5] The skin lesions appear as small, slightly scaly, pimples (papules) made of the thickened outer layer of the…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1380 Definition Cataract nephropathy encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract nephropathy encephalopathy…

Patulous eustachian tube is a benign but symptomatically troubling condition in which the eustachian tube stays open most of the time.[1][2] The eustachian tube is the tube that runs between the middle ear and throat and regulates the ear pressure around the ear drum.[3] Under normal circumstances, it remains closed most of the time, opening only on…

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Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2445 Definition A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2220 Definition Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such…

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Hantavirus pulmonary syndrome (HPS) is a severe, respiratory disease caused by infection with a hantavirus. People can become infected with a hantavirus through contact with hantavirus-infected rodents or their saliva, urine and/or droppings. Early symptoms universally include fatigue, fever and muscle aches (especially in the thighs, hips, and/or back), and sometimes include headaches, dizziness, chills,…

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Hereditary cerebral hemorrhage with amyloidosis (HCHWA) is a neurological condition in which an abnormal protein (amyloid) builds up in the walls of the arteries of the brain (and less frequently, veins). This process is known as amyloid deposition, which can lead to strokes, seizures, neurological deficits, cognitive decline, and dementia. Symptoms usually present before the 5th…

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Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia.[1] These features have lead to the acronym ANOTHER syndrome…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79456 Definition Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ”peau d’orange” appearance and the accumulation of…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2549 Definition Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of unior bilateral craniofacial malformation and radial defects that result in extremely variable…

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Abetalipoproteinemia is a very rare condition that affects fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition. Early symptoms of this condition include diarrhea, vomiting, and poor growth. Without treatment, later complications may include muscle weakness, poor night and color vision, tremors, and speech difficulties.[1][2] The long-term outcome can…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 315 Definition A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or ‘en cocardes’) plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97 Definition Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia….

Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney…

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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Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner….

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…

Duane-radial ray syndrome (DRRS) is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). Other features include bone abnormalities in the hands (malformed or absent thumbs, an extra thumb, or…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 518 Definition A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous…

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Adenosine Deaminase 2 deficiency is an inherited disorder causing inflammation in the body, especially in the tissues that make up the blood vessels (vasculitis). [1][2] Though the severity and age of onset can vary, most patients begin having symptoms within the first decade of life. Symptoms may include the following: recurrent strokes, fevers, muscle pain,…

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Meckel syndrome is a very severe disorder that is characterized by multiple cysts on the kidneys, protrusion of a portion of the brain through an opening in the skull (occipital encephalocele), and extra fingers or toes (polydactyly). Affected children may also have abnormalities affecting the head and face, liver, lungs, genitals, and urinary tract. Because of these serious health problems, most infants…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 44 Definition A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). Epidemiology…

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Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and scoliosis).[1][2] EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is…

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Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary gland  characterized by the triad of a very thin or interrupted pituitary stalk, a misplaced (ectopic) or absent posterior pituitary and a small or absent anterior pituitary, with permanent growth hormone (GH) deficit.[1][2] Signs and symptoms in newborns include low blood sugar levels (hypoglycemia),…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2516 Definition Microcephaly cardiac defect lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. Epidemiology It has been described in…

Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones.[1][2] PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain.[3] Some people…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79281 Definition A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age. Epidemiology Prevalence of this disorder is not known but less than 20 cases have…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 314422 Definition A rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may…

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