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Muenke Syndrome
Muenke syndrome is a condition characterized by the premature closure of the coronal suture of the skull (coronal craniosynostosis) during development. This affects the shape of the head and face.[1][2] Other variable features include abnormalities of the hands or feet, hearing loss and developmental delay. Muenke syndrome is caused by mutations in the FGFR3 gene. It is…
Chromosome 8p23.1 deletion
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251071 Definition 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. Epidemiology The…
Chromosome Xq duplication
Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the…
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) is a rare inherited disorder that affects the immune system.[1][2][3] It has been reported in very few patients to date and has only been diagnosed in males. In XMEN, the number of T cells, a type of immune cell, are decreased or don’t work…
Neurofibromatosis
Neurofibromatosis (NF) is a genetic disease that causes tumors to develop in the nervous system.[1] There are three types of neurofibromatosis that are each associated with unique signs and symptoms:[1][2][3] Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue…
Classic galactosemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79239 Definition A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. Epidemiology Global prevalence is unknown but estimated annual incidence has been reported to…
Prurigo nodularis
Prurigo nodularis (PN) is a skin disease that causes hard, itchy lumps (nodules) to form on the skin.[1] The itching (pruritus) can be intense, causing people to scratch themselves to the point of bleeding or pain. Scratching can cause more skin lesions to appear.[2][3] The itching is worsened by heat, sweating, or irritation from clothing.[4]…
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 3 (CLN3-NCL) is a rare condition that affects the nervous system. Signs and symptoms generally develop between age 4 and 8 years, although later onset cases have been reported. Affected people may experience rapidly progressive vision loss, developmental regression (loss of acquired milestones), cognitive decline, heart problems, seizures, speech disturbances, behavioral problems…
Odonto onycho dysplasia with alopecia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2722 Definition Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic…
Collagenous colitis
Collagenous colitis is a type of inflammatory bowel disease that affects the colon. It is a form of microscopic colitis, which causes chronic diarrhea. It typically occurs in middle-aged adults, is more common in females than in males, and has rarely been reported in children. In all forms of microscopic colitis, the colon appears normal…
Pemphigus foliaceus
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79481 Definition A rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement…
Osteoarthropathy of fingers familial
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3314 Definition Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25…
Combined oxidative phosphorylation deficiency
Combined oxidative phosphorylation deficiency is a disease that affects many parts of the body. Onset occurs at or soon after birth in most cases, and features can include growth retardation, small head (microcephaly), increased muscle tone, floppiness of the trunk and head, brain disease (encephalopathy), enlarged heart muscle (cardiomyopathy), and liver dysfunction. There are many…
Papular epidermal nevi with skyline basal cell layers syndrome
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…
Schwannomatosis
Schwannomatosis is a rare form of neurofibromatosis that is primarily characterized by multiple schwannomas (benign tumors of the nervous system) in the absence of bilateral (affecting both sides) vestibular schwannomas. Signs and symptoms of the condition vary based on the size, location and number of schwannomas but may include pain; numbness; tingling; and/or weakness in…
Pelizaeus-Merzbacher-like disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280270 Definition Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term). Epidemiology Prevalence is unknown. Clinical description It is characterized by…
Intrinsic factor deficiency
Intrinsic factor deficiency is a rare condition that is characterized by pernicious anemia and neurological abnormalities. Most affected people develop signs and symptoms of the condition before age 5 years which may include failure to thrive and symptoms related to anemia (i.e. fatigue, pale skin, etc). Without early diagnosis and treatment, nervous system damage may…
Fibular hemimelia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93323 Definition Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone. Epidemiology Prevalence is estimated at 1 in 50,000. A slight male preponderance has been reported…
Sohval Soffer syndrome
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Pterygium of the conjunctiva and cornea
Pterygium of the conjunctiva and cornea is a benign (non-cancerous) pink lesion that grows from the conjunctiva onto the cornea. They typically start from on the inner surface of the eye, and grow toward the the pupil. Long term exposure to ultraviolet light has been associated with causing this condition. Depending on the size of the pterygium, a person can experience vision problems. Surgical removal…
Continuous spike-wave during slow sleep syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 725 Definition Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at…
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern….
Cranioectodermal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1515 Definition Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa). Epidemiology To date, 20 cases…
Encephalocraniocutaneous lipomatosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2396 Definition A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous…
HTLV-1 associated myelopathy/tropical spastic paraparesis
HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive disease of the nervous system that affects less than 2% of people with HTLV-1 infection. Signs and symptoms vary but may include slowly progressive weakness and spasticity of one or both legs, exaggerated reflexes, muscle contractions in the ankle, and lower back pain. Other features may include…
Spinocerebellar ataxia 18
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98771 Definition Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia. Epidemiology…
Holoprosencephaly ectrodactyly cleft lip palate
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Scleroderma
Scleroderma is an autoimmune disorder that may involve changes in the skin, blood vessels, muscles, and internal organs.[1] There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and internal organs, as well as the skin.[2] These two main types also have sub-types. Localized scleroderma…
Extracranial arteriovenous malformation
Arteriovenous malformations or AVMs are rare vascular malformations (abnormal tangles of blood vessels where direct connections form between arteries and veins) which disrupt natural blood flow. AVMs most commonly affect the central nervous system (brain and spinal cord) but can involve any organ. Those affecting the face, head or neck are often called extracranial arteriovenous…
Sialuria, French type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3166 Definition Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal…
Maffucci syndrome
Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels).[1] The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the…
Deafness craniofacial syndrome
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Ablepharon macrostomia syndrome
Ablepharon macrostomia syndrome is genetic disorder characterized by absent eyelids (ablepharon) and very large mouth (macrostomia). Other common signs and symptoms include abnormal external ears, fusion (syndactyly) of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations, and developmental delay. Other…
Spinocerebellar ataxia with dysmorphism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1185 Definition Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive. Visit the Orphanet…
Granular cell tumor
Granular cell tumors (GCTs) are soft tissue tumors that can occur anywhere in the body. They are thought to arise from the cells that surround and insulate the nerve cells in our body (Schwann cells). Most granular cell tumors are benign (non-cancerous), although some may be locally aggressive. Less than 2% are malignant (cancerous), but…
Stiff skin syndrome
Stiff skin syndrome (SSS) is a rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures).[1] The onset of signs and symptoms can range from presenting at birth through childhood.[2] Other signs…
Oculocerebrocutaneous syndrome
Oculocerebrocutaneous (OCC) syndrome is a rare genetic disorder characterized primarily by eye, skin, and brain malformations. It has been described mostly in males.[1][2][3] Findings in affected individuals may include orbital cysts, areas of underdeveloped (hypoplastic) or absent (aplastic) skin, and underdevelopment (hypoplasia) or absence (agenesis) of the band of nerve fibers that joins the brain’s hemispheres (corpus…
Proud syndrome
Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutations) in the ARX gene and is inherited…
Dermal eccrine cylindroma
Cylindromas are non-cancerous (benign) tumors that develop from the skin.[1] They most commonly occur on the head and neck and rarely become cancerous (malignant). An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited.[1] They usually begin to form during mid-adulthood as a…
Thyrotoxic periodic paralysis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79102 Definition Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. Epidemiology It is most common in Asian males (with male-to-female ratios ranging…
Woodhouse Sakati syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3464 Definition Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. Epidemiology Approximately 30 patients from consanguineous Middle Eastern families, together with…
Isaacs’ syndrome
Isaacs’ syndrome is a rare neuromuscular disorder that is characterized by progressive muscle stiffness; continuously contracting or twitching muscles (myokymia); and diminished reflexes. Signs and symptoms generally develop between ages 15 and 60, with most people experiencing symptoms before age 40. Although the exact underlying cause is unknown, there appear to be hereditary and acquired…
Diffuse panbronchiolitis
Diffuse panbronchiolitis (DPB) is a rare condition characterized by inflammation of the small airways of the lungs (bronchiolitis) and chronic sinusitis. It mainly occurs among the Japanese but has been reported in other populations. Symptoms typically develop anywhere from the teenage years to the fifth decade of life and are slowly progressive over months to…
Vogt-Koyanagi-Harada disease
Vogt-Koyanagi-Harada disease (VKH disease) affects the eyes, ears, nervous system, and skin. The symptoms of VKH occur in different phases. The early symptoms include headaches, eye pain, and dizziness. These are followed by hearing loss and inflammation of the eye (panuveitis). Later symptoms include development of white patches of skin and hair (vitiligo), hair loss…
Duane-radial ray syndrome
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…
Yemenite deaf-blind hypopigmentation syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3214 Definition Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. Epidemiology The syndrome was described in 1990 in two patients from the same…
Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short trunk, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability…
Dysplastic cortical hyperostosis
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NBIA/DYT/PARK-PLA2G6
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 199351 Definition A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. Epidemiology Prevalence is unknown. Only 14 cases have…
Glycogen storage disease type 12
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 57 Definition Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe…
Glycogen storage disease type 13
Glycogen storage disease type 13 (GSD13), also known as β-enolase deficiency, is an inherited disease of the muscles. The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain. GSD13 is caused by changes (mutations) in the ENO3 gene and is inherited in an autosomal recessive…
Alpers syndrome
Alpers syndrome is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia). [1] Most often Alpers syndrome is caused by mutations in the POLG gene. [2]
Frontonasal dysplasia
Frontonasal dysplasia is a rare disease that results from abnormal development of the head and face before birth. Symptoms often vary, however more common symptoms include wide spaced eyes, a widow’s peak, and a broad nose. Less common features include eye abnormalities, missing the connection between the two halves of the brain (agenesis of the…
Spinocerebellar ataxia 34
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1955 Definition An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Epidemiology…
Glycogen storage disease type 3
Glycogen storage disease type 3 (GSDIII) is an inherited disorder caused by the buildup of glycogen in the body’s cells. This buildup impairs the function of certain organs and tissues, especially the liver and muscles. Symptoms typically begin in infancy and may include hypoglycemia, hyperlipidemia (excess of fats in the blood), and elevated blood levels…
Anal cancer
Anal cancer is a rare form of cancer that occurs due to abnormal and uncontrolled cell growth in the anus. Signs and symptoms of the condition include rectal bleeding; a lump in or near the anus; anal pain; itching; changes in bowel habits; and/or swollen lymph nodes. In most cases, the underlying cause of anal…
Genetic steroid-resistant nephrotic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 656 Definition A rare disorder characterized by a nephrotic syndrome with often early onset. Epidemiology Prevalence in the general population is unknown. Clinical description The nephrotic syndrome is defined by severe proteinuria with low serum…
Atelosteogenesis type 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1190 Definition A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. Epidemiology Atelosteogenesis I (AOI) is a very rare infrequently…
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