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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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Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver…

Androgenetic alopecia is a common form of hair loss in both men and women. In men, hair is usually lost in a well-defined pattern, beginning above both temples and is usually referred to as male-pattern baldness. Over time, the hairline recedes to form a characteristic ‘M’ shape. Hair also thins near the top of the…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79143 Definition Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission,…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79147 Definition Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules. Visit the Orphanet disease page for…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 206569 Definition Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation. Epidemiology The…

Fanconi Bickel syndrome (FBS) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the body. Glycogen is created when the body needs to store glucose (sugar). When the body needs sugar again, glycogen is transformed back into glucose for use.[1] People with Fanconi Bickel syndrome do not…

Factor V Leiden thrombophilia is a genetic disorder that makes it more likely for you to develop a blood clot sometime during your life. Still, it is estimated that 95% of people with factor V Leiden never develop a clot. When a clot does form, the clot most often occurs in your leg (deep venous…

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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,…

Fibromuscular dysplasia (FMD) is a condition characterized by abnormal development or growth of cells in the walls of blood vessels (arteries) that can cause the vessels to narrow. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected….

Crigler-Najjar syndrome type 2 (CN-2) is a rare disorder that causes elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin normally is made by the body when old red blood cells are broken down. However, people with CN-2 develop hyperbilirubinemia even when red blood cells are not excessively broken down, because they have too little of a…

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Gordon Syndrome is a rare, inherited disorder that affects movement in the joints of the upper and lower limbs, also known as distal arthrogryposis. People with this disorder can be born with several fingers fixed in a flexed position (camptodactyly), clubfoot, and an opening in the roof of the mouth (cleft palate). Their joints are…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1399 Definition Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability 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: 79474 Definition An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged…

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Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth.[1][2] Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature,…

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Autosomal recessive protein C deficiency is an inherited blood clotting disorder characterized by serious protein C deficiency. The disease may be very severe and associated with neonatal purpura fulminans (NPF) or intracranial thromboembolism. It may also be a milder disorder where patients present with clotting (venous thromboembolism) in childhood, adolescence, or adulthood.[1] It is caused by having…

Graham-Little-Piccardi-Lassueur syndrome (GLPLS) is a rare type of scarring hair loss. It is most commonly found in otherwise healthy women between the ages of 30 and 70 years. GLPLS is characterized by three features: progressive patchy scarring hair loss of the scalp (cicatricial alopecia), non-scarring thinning of the hair in the armpits and groin (noncicatricial…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171622 Definition Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of…

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MYD88 deficiency is a rare primary immunodeficiency characterized by an increased susceptibility to certain types of bacterial infections. People affected by this condition generally have abnormally frequent and life-threatening infections caused by pyogenic bacteria (such as Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa). However, their immune response to other common bacteria, viruses, fungi, and parasites…

Hereditary alpha tryptasemia syndrome is a condition characterized by high blood tryptase levels, and by several symptoms associated with multiple organ systems. These symptoms may include allergic-like symptoms (skin itching, flushing, hives, or anaphylaxis); gastrointestinal symptoms such as bloating, abdominal pain, diarrhea and/or constipation (often diagnosed as irritable bowel syndrome), heartburn, reflux, and difficulty swallowing;…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280598 Definition Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2891 Definition Pili tortidevelopmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous…

Graves’ disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism). It is caused by the immune system mistakenly attacking the thyroid gland, causing the gland to produce too much thyroid hormone. Graves disease is the most common cause of hyperthyroidism and occurs most often in women over age 20. However, the disorder may…

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Becker’s nevus is a non-cancerous, large, brown birthmark occurring mostly in males. It can be present at birth, but is usually first noticed around puberty. It typically occurs on one shoulder and upper trunk but occasionally occurs elsewhere on the body. A Becker’s nevus often becomes darker, and excessive hair growth (hypertrichosis) and acne may develop…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2570 Definition Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine…

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Benign mesonephroma (Wolffian tumors or Wolffian duct adenomas) are rare tumors located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. Wolffian ducts are structures in a developing embryo that get incorporated into the reproductive system in males and degenerate in females. Wolffian tumors are thought to have a…

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….

HIBCH deficiency is a rare metabolic disease. Early symptoms include poor muscle tone, poor feeding, seizures, and a gradual loss of skills. HIBCH deficiency can cause signs and symptoms similar to another disease, called Leigh syndrome.[1] Diagnosis is aided by blood tests which show high levels of lactic acid, and imaging studies which show changes…

Jackhammer esophagus is a motility disorder of the esophagus, the tube that connects the mouth with the stomach, classified under esophageal spasms. Esophageal spasms are divided in 2 main types, diffuse esophageal spasm and hypertensive peristalsis or nutcracker esophagus. Jackhammer esophagus is the most serious manifestation of the hypertensive type and it is also known as…

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…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1200 Definition Choanal atresia deafness cardiac defects dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial…

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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…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1259 Definition This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia. Epidemiology It has been described in three members of one family (in a mother and her two daughters). Genetic counseling…

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, with susceptibility to mycobacteria, such as the vaccine against tuberculosis (bacillus Calmette-Guérin (BCG) and environmental mycobacteria. It is characterized by severe, recurrent infections, either systemic (widespread) or localized. It has many subtypes. The most serious types are the autosomal recessive complete interferon gamma receptor 1 (IFN-gammaR1)…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85173 Definition IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients…

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: 1275 Definition Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly….

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2770 Definition Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171433 Definition Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression. Epidemiology The annual incidence…

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Bronchiolitis obliterans is an inflammatory condition that affects the lung’s tiniest airways, the bronchioles. In affected people, the bronchioles may become damaged and inflamed leading to extensive scarring that blocks the airways. Signs and symptoms of the condition include a dry cough; shortness of breath; and/or fatigue and wheezing in the absence of a cold…

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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…

Genoa syndrome is a rare condition that primarily affects the brain and skull. Babies with this condition are generally born with semilobar holoprosencephaly, a disorder caused by failure of the developing brain to sufficiently divide into the double lobes of the cerebral hemispheres. They later develop craniosynostosis (the premature closure of one or more of…

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,…

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A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration…

Lenz microphthalmia syndrome is one of a group of genetic disorders known as syndromic microphthalmia. These conditions involve abnormal development of the eyes and several other parts of the body. Eye symptoms may include underdeveloped (small)or absent eyes, clouding of the lens (cataracts), uncontrolled eye movements (nystagmus),a gap or split in structures that make up…

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…

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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,…

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Liposarcoma is a tumor that arises from fat tissue. This tumor often occurs in the thigh, legs, behind the knee, or in the abdomen, but it can be found in other parts of the body, in the retroperitoneum; and, less often, in the head and neck area. Their primary occurrence in the skin is rare. Because a liposarcoma may…

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…

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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…

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…

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…