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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: 98DefinitionAutosomal 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.EpidemiologyIt was initially described in the Charlevoix-Saguenay region of Quebec where incidence of…
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…
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…
Glutathionuria
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 33573 Definition A disorder that is characterized by increased glutathione concentration in the plasma and urine. Epidemiology Gamma-glutamyl transpeptidase deficiency has been detected in seven patients in five families worldwide. Clinical description Five of the…
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…
Frey’s syndrome
Frey’s syndrome is a rare, neurological disorder that causes a person to sweat excessively while eating. It most often occurs as a complication of surgery involving the parotid gland (a major salivary gland located below the ear). It may also occur following neck dissection, facelift procedures, or trauma to the area near the parotid gland.[1][2]…
Pemphigoid gestationis
Pemphigoid gestationis (PG) is a pregnancy-associated, autoimmune skin disorder. It usually begins abruptly during the 2nd or 3rd trimester of pregnancy, but it can begin at any time during pregnancy. Signs and symptoms often include the sudden formation of very itchy, red bumps and/or blisters on the abdomen and trunk, which may then spread to other…
Thoracolaryngopelvic dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3317 Definition Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. Epidemiology Prevalence is unknown but less than 10 cases have been reported in the literature so far….
GMS syndrome
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Parkinson disease type 9
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 306674 Definition Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. Visit the Orphanet disease page for more resources.
Granulomatous slack skin disease
Granulomatous slack skin disease (GSS) is a very rare cutaneous disorder and less than 50 cases have been reported so far. The cause of this condition is unknown but it is often associated with mycosis fungiodes and other lymphoproliferative disorders such as Hodgkin and non-Hodgkin lymphoma. Signs and symptoms include loose hanging skin and fine wrinkling of…
Axial spondylometaphyseal dysplasia
Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term “axial” means towards the center of the body. “Sphondylos” is a Greek term meaning vertebra. “Metaphyseal dysplasia” refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine, upper arms and upper legs, and results…
Spastic paraplegia facial cutaneous lesions
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2819 Definition A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution…
Neuropathy, hereditary motor and sensory, Okinawa type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90117 Definition Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle…
Muscular dystrophy, congenital, infantile with cataract and hypogonadism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1875 Definition Congenital muscular dystrophy-infantile cataracthypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission…
Insulin autoimmune syndrome
Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high,…
Short rib-polydactyly syndrome type 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93268 Definition Short ribpolydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features…
HSD10 disease
HSD10 disease (also known as 2-methyl-3-hydroxybutyric aciduria) is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss…
HIBCH deficiency
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…
Hyperprolinemia
Hyperprolinemia is when there is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms: hyperprolinemia type 1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although…
Bile acid synthesis defect, congenital, 4
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Familial atypical multiple mole melanoma syndrome
Familial atypical multiple mole melanoma syndrome (FAMMM syndrome) is an inherited condition characterized by the presence of multiple moles.[1][2] Atypical moles, also called dysplastic nevi, are benign but are associated with an increased risk of melanoma.[3] They can occur sporadically (with no other cases in a family), but are a symptom of FAMMM when multiple…
Marie Unna congenital hypotrichosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 444 Definition A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around…
Branchiootic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 52429 Definition Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or…
Juvenile osteoporosis
Juvenile osteoporosis is a condition of bone demineralization characterized by pain in the back and extremities, multiple fractures, difficulty walking, and evidence of osteoporosis.[1][2] Symptoms typically develop just before puberty. Osteoporosis is rare in children and adolescents. When it does occur, it is usually caused by an underlying medical disorder or by medications used to treat…
Bowen-Conradi syndrome
Bowen-Conradi syndrome is a very rare genetic disorder characterized by growth delays before birth, failure to thrive during infancy, and malformations of the head and facial area. Other physical abnormalities include small head, prominent nose, small chin, mild joint restriction, clinodactyly, camptodactyly, foot deformities, and/or undescended testes (cryptorchidism) in affected males. Some affected infants may also have…
Spondyloepiphyseal dysplasia Maroteaux type
Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees). In addition to these physical characteristics, individuals with SED Maroteaux type have some common radiographic findings, including platyspondyly (flattened vertebral bodies in the spine), abnormalities of…
Intellectual deficit short stature hypertelorism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3074 Definition Intellectual disabilityshort stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad ‘square’ forehead, hypertelorism, depressed nasal bridge, broad nasal tip…
Pars planitis
Pars planitis is a disease of the eye that is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. As the condition advances, cataracts, retinal detachment, or macular…
Juvenile polyposis syndrome
Juvenile polyposis syndrome (JPS) is a disorder characterized by having a susceptibility to developing hamartomatous polyps in the gastrointestinal (GI) tract. A hamartomatous polyp is a benign (noncancerous) tumor-like malformation made up of an abnormal mixture of cells and tissues. In JPS, these polyps can occur in the stomach, small intestine, colon, and rectum. The term “juvenile” refers…
Kapur Toriello syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2328 Definition Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Epidemiology Only four cases have been reported in the literature, in three…
Knobloch syndrome
Knobloch syndrome is characterized by severe vision problems and skull defects.[1] The most common features include extreme nearsightedness (high myopia), recurrent retinal detachment, and occipital encephalocele.[1][2] There are three types of Knobloch syndrome, which can be distinguished by the underlying genetic cause. Knobloch syndrome type I is caused by mutations in the COL18A1 gene. The genes associated with Knobloch syndrome…
COG5-CDG (CDG-IIi)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 263487 Definition COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and…
Squamous cell carcinoma
Squamous cell carcinoma (SCC) is the second most common skin cancer. SCC most often affects individuals who are exposed to large amounts of sunlight. It is typically characterized by a red papule or plaque with a scaly or crusted surface; it may be suspected whenever a small, firm reddish-colored skin lesion, growth or bump appears on…
Lethal congenital contracture syndrome 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137776 Definition Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the…
Carnosinemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1361 Definition Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency. Epidemiology About 30 individuals have been reported worldwide. Etiology The gene associated with this disease has not been identified. The…
Limb-girdle muscular dystrophy type 2H
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1878 Definition A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second…
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process certain nutrients from food including amino acids, lipids and cholesterol. People with this disorder have a combination of features from two separate conditions: methylmalonic acidemia and homocystinuria. When the condition begins early in life, babies have difficulty gaining weight (failure to thrive), feeding…
Lopes Gorlin syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2832 Definition Short tarsus absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Epidemiology It has been…
Central congenital hypothyroidism
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…
Lupus nephritis
Lupus nephritis is a kidney disorder that is a complication of systemic lupus erythematous (SLE), commonly known as lupus.[1] The symptoms of lupus nephritis include blood in the urine, a foamy appearance to the urine, high blood pressure, and swelling in any part of the body.[1] This condition typically occurs in people aged 20 to 40…
MOMO syndrome
MOMO syndrome was named for the features associated with the syndrome including macrosomia (being larger than expected from birth), obesity, macrocephaly (having a large head size) and ocular (eye) abnormalities. It has also been proposed that mental (intellectual) disability may be used as an identifying feature of the syndrome instead of macrosomia, as macrosomia has…
Ovarian carcinosarcoma
Ovarian carcinosarcoma, also known as a malignant mixed mullerian tumor (MMMT) of the ovary, is a rare, aggressive cancer of the ovary with characteristics of two types of cancer: carcinoma and sarcoma.[1] Because women with this cancer often have no symptoms, more than half of women are diagnosed at an advanced stage.[2] When present, symptoms may include pain…
Chancroid
Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more. About half of the people who…
Uncombable hair syndrome
Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It is usually characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age.[1] Most cases are…
Megalocornea-intellectual disability syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2479 Definition Megalocorneaintellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing,…
Ellis-Van Creveld syndrome
Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects. More than half of…
Microcephalic primordial dwarfism Toriello type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2643 Definition A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. Visit…
Chromosome 12p duplication
Chromosome 12p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in…
Omodysplasia 1
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Spondyloepimetaphyseal dysplasia Missouri type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93356 Definition Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae…
Mosaic trisomy 8
Mosaic trisomy 8 is a chromosomal abnormality that can affect many parts of the body. In individuals with mosaic trisomy 8, some of the body’s cells have three copies of chromosome 8 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary, but may include distinctive facial features; intellectual disability;…
Transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood.[1] Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to…
Multifocal choroiditis
Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort.[1] Though the cause is unknown, multifocal…
Chromosome 8q24.3 deletion syndrome
Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalities. Some affected people may also have coloboma, kidney…
Tubular aggregate myopathy
Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved.[1] Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue.[1][2][3] Affected individuals may have an unusual…
Neonatal Onset Multisystem Inflammatory disease
Neonatal onset multisystem inflammatory disease (NOMID) is an inflammatory disorder present from birth (congenital) characterized by tissue damage of the nervous system, skin, and joints. Individuals with NOMID have a skin rash that is present from birth and persists throughout life. Other symptoms may include: headaches, seizures, and vomiting resulting from chronic meningitis (inflammation of the…
Neonatal severe hyperparathyroidism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 417 Definition Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. Epidemiology The prevalence is unknown. Clinical description The clinical manifestations are early (with…
Oculoauriculofrontonasal syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 398156 Definition Oculoauriculofrontonasal syndrome is a rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia,…
Coccygodynia
Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more common causes are direct falls and injury. [1]
Osteoporosis oculocutaneous hypopigmentation syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2786 Definition Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. Visit the Orphanet disease page…
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 228423 Definition Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, Band NKcell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral…
Restless legs syndrome
Restless legs syndrome (RLS) is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, which occur mostly while the affected person is sitting or lying down and are worse at night. Movement (i.e. kicking, stretching, rubbing, or pacing) makes the discomfort go away,…
Ouvrier Billson syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1179 Definition Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with…
PTEN hamartoma tumor syndrome
PTEN hamartoma tumor syndrome refers to a spectrum of conditions that are characterized by multiple hamartomas. These conditions include: Cowden syndrome associated with a high risk for benign and malignant (cancerous) tumors of the thyroid, breast, and uterus. Affected people may also have macrocephaly and characteristic skin abnormalities. Bannayan-Riley-Ruvalcaba syndrome characterized by macrocephaly (large head…
Unilateral absence of a pulmonary artery
[if gte mso 9]> Unilateral absence of the pulmonary artery (UAPA) is a heart defect that is present from birth. The pulmonary artery takes blood from the heart to the lungs. In the absence of a pulmonary artery, other blood vessels compensate by supplying blood to the lungs. Pressure can build inside these vessels and…
Paroxysmal hemicrania
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 157835 Definition A rare primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with ipsilateral cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks…
Short rib-polydactyly syndrome type 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93270 Definition Short ribpolydactyly syndrome (SRPS), Saldino-Noonan type is an extremely rare type of SRPS with neonatal onset characterized by polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected…
Primary melanoma of the central nervous system
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….
Multisystemic smooth muscle dysfunction syndrome
Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypoperistalsis). A certain…
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