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Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy is a type of lipid storage disorder that mostly affects the nervous system. It has two forms, a classic form and an atypical form. The classic form is usually diagnosed in infancy or early childhood and leads to a progressive loss of vision and developmental milestones. The atypical form usually begins in early childhood,…
Lambert syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1296 Definition Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and…
Glomerulonephritis
Glomerulonephritis is a type of kidney disease in which there is inflammation of the glomeruli, the tiny filters that remove excess waste and fluids from the blood.[1][2] It may be acute or chronic (coming on gradually), and may occur on its own (primary) or be caused by another condition (secondary).[1] Signs and symptoms may depend on the type and…
Intravenous leiomyomatosis
Intravenous leiomyomatosis (IVL) is a benign smooth muscle tumor of the uterus that grows within the veins but does not invade the surrounding tissue. IVL usually starts in the veins of the uterus and can extend into the inferior vena cava and ultimately into the right side of the heart, resulting in death The abnormal smooth muscle…
Scleredema
Scleredema is a form of cutaneous mucinosis, a diverse group of rare skin conditions that are characterized by an accumulation of mucin (a jelly-like complex carbohydrate substance) in the skin. Signs and symptoms of this condition include hardening and thickening of the skin which may restrict movement. Skin in affected areas may be red or…
Juvenile dermatomyositis
Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and…
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…
Warfarin syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1914 Definition Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during…
Radio renal syndrome
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Spinocerebellar degeneration and corneal dystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3177 Definition A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait…
Cranio osteoarthropathy
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Craniofacial microsomia
Craniofacial microsomia (CFM) includes several conditions characterized by defects that occur when the fetus is forming within the womb of the mother, in structures known as the “first and second brachial arch”. These structures will develop to form the neck and the head. The first arches produce the lower jaw, two bones inside the ear,…
Trichotillomania
Trichotillomania is a disorder characterized by an overwhelming urge to repeatedly pull out one’s own hair, resulting in hair loss (alopecia).[1][2] It is classified under the obsessive-compulsive and related disorders category. Trichotillomania results in highly variable patterns of hair loss. The scalp is the most common area of hair pulling, followed by the eyebrows, eyelashes, pubic…
POEMS syndrome
POEMS syndrome is a rare, mulitisystem disorder. POEMS stands for the disorder’s features, which may include Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, and Skin changes. Signs and symptoms may include progressive sensorimotor polyneuropathy; enlarged liver, spleen, and/or lymph nodes; a disorder of the endocrine glands (often with multiple abnormalities); a monoclonal plasma cell proliferative disorder; and…
Hand foot uterus syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2438 Definition Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects. Visit the Orphanet disease page for more resources.
Spinocerebellar ataxia 5
Spinocerebellar ataxia 5 (SCA5) is one of the many spinocerebellar ataxias, which are inherited conditions that cause degeneration of the spinal cord and cerebellum. SCA5 almost exclusively affects the cerebellum. It is considered to be a mild form that progresses slowly. The age of onset is usually between the ages of 20 and 30, but…
Dermatofibroma
Dermatofibroma is a common benign skin nodule. It frequently develops on the extremities (most often the lower legs). Although it is generally not associated with any signs or symptoms, some affected people may experience itching and/or tenderness. Dermatofibromas are found in people of all ages and ethnicity and are more commonly diagnosed in women than…
Familial HDL deficiency
Familial HDL deficiency is a rare genetic condition that causes low levels of “good” cholesterol (HDL) in the blood. HDL helps remove excess cholesterol and fats from your blood. People with familial HDL deficiency may develop cardiovascular disease at a relatively young age, often before age 50. This condition is caused by changes in the…
Spondyloepimetaphyseal dysplasia Genevieve type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168454 Definition Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well…
Idiopathic edema
Idiopathic edema is a common cause of fluid retention and swelling (edema) in women.[1] “Idiopathic” means that the cause of this condition is unknown. Idiopathic edema occurs in the absence of heart, kidney, or liver disease. It is often associated with diabetes, obesity, and emotional problems. The edema may develop periodically or it may persist over time….
Sjogren syndrome
Sjögren syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose,…
Desbuquois syndrome
Desbuquois syndrome (DBQD) is a rare type of osteochondrodysplasia (a disorder of the development of bones and cartilage). Characteristics may vary in severity and can include short stature with short extremities, severe joint laxity with dislocation, osteopenia, kyphoscoliosis, distinctive facial characteristics and other abnormalities.[1]Two forms have been distinguished on the basis of the presence (type 1) or…
Attenuated familial adenomatous polyposis
Attenuated familial adenomatous polyposis (AFAP) is an inherited condition that increases the chance to develop cancer of the large intestine (colon) and rectum. It is a milder form of classic familial adenomatous polyposis (FAP) and is characterized by fewer colon polyps (an average of 30) and a delay in the development of colon cancer (average age…
X-linked intellectual disability, Shashi type
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Sixth nerve palsy
Sixth nerve palsy is a nerve disorder that occurs when the sixth cranial nerve is damaged. The disorder prevents some of the muscles that control eye movement from working properly. Affected people cannot turn the eye outwards toward the ear. Other signs and symptoms may include double vision, headaches, and pain around the eye. Sixth…
Spondylometaphyseal dysplasia type A4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168555 Definition Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an…
Pretibial epidermolysis bullosa
Pretibial epidermolysis bullosa is a rare form of epidermolysis bullosa, a condition characterized by fragile skin that blisters easily in response to minor injury or friction. In the pretibial form, specifically, the characteristic blisters and skin erosions develop predominantly on the front of the lower legs (known as the “pretibial region”). In some affected people,…
Superficial siderosis of the central nervous system
Superficial siderosis of the central nervous system is a rare condition that primarily affects the brain. Signs and symptoms generally develop in adulthood and may include hearing loss and cerebellar ataxia. Some affected people may also experience seizures, memory impairment, bladder disturbance, headaches, back pain, and/or dysarthria. Superficial siderosis of the central nervous system is…
Aceruloplasminemia
Aceruloplasminemia causes a build-up of iron in the brain and the organs of the body. Signs and symptoms begin in adulthood. People with aceruloplasminemia develop anemia, diabetes, and eye problems. Over time, difficulty controlling movements may occur. These include tremors, chorea, ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40’s and 50’s….
Taurodontia, absent teeth, sparse hair syndrome
Taurodontia, absent teeth, sparse hair syndrome is a rare condition that, as the name suggests, is primarily characterized by malformations of the primary and/or secondary molars (taurodontia); the absence of several teeth; and unusually sparse, slow-growing hair. The underlying cause of the condition is currently unknown. It appears to follow an autosomal recessive pattern of…
Rigid spine syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97244 Definition Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure),…
Diencephalic syndrome
Diencephalic syndrome is a condition caused by a tumor located in a portion of the brain above the brainstem called the diencephalon. The diencephalon includes the hypothalamus and the thalamus.[1] This condition is usually found in infants and young children and may result in symptoms including failure to gain weight and grow normally (failure to thrive),…
Acrodysplasia scoliosis
Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner….
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