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Congenital hypopituitarism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 467DefinitionCongenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.EpidemiologyCongenital hypopituitarism is rare compared with the high incidence…
Piebaldism
Piebaldism is a rare inherited condition characterized by a white forelock (a patch of white hair directly above the forehead). The name piebaldism is derived from the words “pie” (from magpie, which is a black and white bird) and “bald” (from the bald eagle, the US national bird that has a white feathered head). Other features…
Macules hereditary congenital hypopigmented and hyperpigmented
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2435 Definition Hypoand hypermelanotic cutaneous macules-retarded growthintellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and…
Small cell carcinoma of the bladder
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 284400 Definition Small cell carcinoma of the bladder (SCCB) is a very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course. Epidemiology SCCB is extremely rare…
Pseudodiastrophic dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85174 Definition Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10…
Penoscrotal transposition
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2842 Definition Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple…
Cor triatriatum dexter
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99098 Definition A rare, congenital, non-syndromic, heart malformation characterized by the persistence of the embryonic right valve of the sinus venosus which results in a subdivision of right atrium into two chambers. Clinical manifestations depend…
Craniorachischisis
Craniorachischisis is the most severe type of neural tube defect in which both the brain and spinal cord remain open; both anencephaly and spina bifida (from the cervical region to the lumbar or sacral region of the spine) are present.[1][2] Fetuses with craniorachischisis often miscarry during pregnancy or die shortly after birth.[2] The cause is…
Haim-Munk syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2342 Definition Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. Epidemiology HMS is rare with less than 100 cases reported in the literature so far. The…
Spinocerebellar ataxia 21
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98773 Definition Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive…
Adie syndrome
Adie syndrome is is a neurological disorder affecting the pupil of the eye and the autonomic nervous system.[1][2] It is characterized by one eye with a pupil that is larger than normal that constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.[1][2][3] In most cases, the cause…
SCN2A related disorders
SCN2A related disorders are a group of epilepsy and neurodevelopmental disorders, each caused by changes (mutations) in a gene called SCN2A.[1] These disorders range from mild to severe and primarily include:[2] Infantile epileptic encephalopathy (IEE) characterized by seizures beginning in infancy (before 12 months of age) followed by developmental delay. Benign (familial) infantile seizures (BISs) characterized by seizures…
Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2492 Definition A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be…
Spondyloepimetaphyseal dysplasia Sponastrime type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93357 Definition A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned…
Czech dysplasia metatarsal type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137678 Definition A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies. Epidemiology…
Hemangioendothelioma
The term hemangioendothelioma describes several types of vascular neosplasms and includes both non-cancerous (benign) and cancerous (malignant) growths. The term has also been applied to those that show “borderline” behavior, intermediate between entirely benign hemangiomas and highly malignant angiosarcomas.[1] Hemangioendotheliomas are caused by abnormal growth of blood vessel cells, although the exact underlying cause for…
Spastic paraplegia 13
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100994 Definition A rare hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Visit the Orphanet disease page for…
Gamma aminobutyric acid transaminase deficiency
GABA (gamma-aminobutyric acid) is an important molecule which slows down the activity of cells in the brain.[1] GABA is broken down in the body by a substance known as 4-aminobutyrate aminotransferase, also known as GABA-transaminase or GABA-T.[1] Mutations in the ABAT gene can cause less GABA-T to be made, a condition known as GABA-T deficiency.[1]…
Absence of septum pellucidum
The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain.[1] When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of…
Klumpke paralysis
Klumpke paralysis is a rare type of birth injury to the nerves around a newborn’s shoulder, known as the brachial plexus. Most types of brachial plexus injuries affect the shoulder and upper arm. Klumpke paralysis affects the movement of the lower arm and hand. Signs and symptoms include weakness and loss of movement of the…
Dermatoleukodystrophy
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Acute ackee fruit intoxication
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 73423 Definition A rare disease caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is…
Trigeminal neuralgia
Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain.[1] The pain may…
SAPHO syndrome
SAPHO syndrome involves any combination of: Synovitis (inflammation of the joints), Acne, Pustulosis (thick yellow blisters containing pus) often on the palms and soles, Hyperostosis (increase in bone substance) and Osteitis (inflammation of the bones). The cause of SAPHO syndrome is unknown and treatment is focused on managing symptoms.[1]
Trisomy 3 mosaicism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100071 Definition Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears,…
Acromesomelic dysplasia
Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet…
Weaver Williams syndrome
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Verloes Van Maldergem Marneffe syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2551 Definition Microspherophakia metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Epidemiology It has been reported in a father and his son. Clinical description Bone dysplasia is…
Adenosine monophosphate deaminase 1 deficiency
Adenosine monophosphate deaminase 1 (AMPD1) deficiency is an inherited condition that can affect the muscles used for movement (skeletal muscles). Many people with AMPD1 deficiency do not have symptoms. People who do have symptoms typically have muscle pain (myalgia), cramping, and weakness after exercise, and often get tired faster than others. Some affected people appear to…
Hypothalamic obesity
Hypothalamic obesity refers to obesity that is caused by physical or inborn damage to the hypothalamus. The hypothalamus is part of the brain that makes hormones that control specific body functions such as sleep, body temperature, and hunger. It also makes hormones that control other organs in the body, especially the pituitary gland. The symptoms…
Witkop syndrome
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…
Albright’s hereditary osteodystrophy
Albright’s hereditary osteodystrophy (AHO) is a rare disorder with a wide range of signs and symptoms, including short stature, obesity, round face, subcutaneous ossifications (formation of bone under the skin), and short fingers and toes (brachydactyly).[1][2] When the disorder is inherited from the mother, the features of AHO can be associated with resistance to certain hormones, in particular the parathyroid hormone (PTH)….
Ehlers-Danlos syndromes
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…
Erythema nodosum, idiopathic
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…
Pseudoaminopterin syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221120 Definition Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault),…
Anaplastic oligodendroglioma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251630 Definition A rare glial tumor characterized by a grade III oligodendroglial tumour with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with…
Palmer Pagon syndrome
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Annular atrophic lichen planus
Annular atrophic lichen planus (LP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In annular atrophic LP, specifically, affected people develop skin lesions with features of both annular LP and atrophic LP ring-shaped, slightly raised, purple lesions with central atrophy (tissue breakdown). Although these lesions can be…
Mondini dysplasia
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…
Diethylstilbestrol syndrome
Diethylstilbestrol syndrome (DES syndrome) refers to developmental or health problems caused by exposure to DES before birth (in utero), such as reproductive tract differences, infertility, and an increased risk for certain cancers.[1][2] DES is a synthetic form of the female hormone estrogen that was prescribed to pregnant women between about 1940 and 1971 to prevent…
Short stature syndrome, Brussels type
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…
Autoimmune polyglandular syndrome type 2
Autoimmune polyglandular syndrome type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands.[1] It is characterized by the presence of Addison’s disease along with autoimmune thyroid disease and/or type 1 diabetes.[1] Affected individuals may also have problems with other endocrine glands and other common features include primary hypogonadism, myasthenia gravis, and celiac disease. Autoimmune polyglandular syndrome…
Laurin-Sandrow syndrome
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…
Spastic ataxia Charlevoix-Saguenay type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98 Definition Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy. Epidemiology It was initially described in the Charlevoix-Saguenay region…
Fetal akinesia deformation sequence
Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities.[1][2] It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but…
Odontotrichomelic syndrome
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;…
Ivemark syndrome
Ivemark syndrome is a rare congenital condition that affects multiple organ systems of the body. Ivemark syndrome is classified as a heterotaxy disorder or a laterality disorder. These terms refer to the failure of the internal organs of the chest and abdomen to be arranged in the proper location within the body. It is characterized…
Gangliocytoma
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…
Atrophic lichen planus
Atrophic lichen planus (LP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In atrophic LP, specifically, affected people develop pale papules or plaques with an atrophic (broken down tissue) center. Although these papules can be found anywhere on the body, they most commonly affect the trunk…
Autoimmune autonomic ganglionopathy
Autoimmune autonomic ganglionopathy (AAG) is a condition in which the body’s immune system mistakenly attacks and damages certain parts of the autonomic nervous system. AAG may be divided into two different types based on the presence of specific types of cells in the blood that normally fight infection (antibodies). Signs and symptoms of AAG usually begin…
Gigantism
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…
Hemochromatosis type 4
Hemochromatosis type 4 (also called ferroportin disease) 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,…
Glycine N-methyltransferase deficiency
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,…
Griscelli syndrome
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…
Guttate psoriasis
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…
Juvenile Paget disease
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…
Bartter syndrome type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93605 Definition Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of…
Von Willebrand disease
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…
Baylisascaris infection
Baylisascaris roundworms are intestinal parasites found in many different animals.[1] Baylisascaris infection in humans is uncommon but can be severe. While Baylisascaris can infect different types of animals, Baylisascaris procyonis, carried by raccoons, is thought to pose the greatest risk to humans because raccoons often live in close proximity to humans.[1][2] Humans can acquire the parasite by ingesting the eggs…
Kikuchi disease
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…
Mousa Al din Al Nassar syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2572 Definition Spastic ataxia-corneal dystrophy syndrome is a rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and…
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