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Malignant mixed Mullerian tumor
A malignant mixed müllerian tumor (MMMT), also called a carcinosarcoma, is a type of cancer that contains two types of cancer cells carcinoma and sarcoma cells. These tumors usually develop in tissues of the female genital tract and are associated with a poor outcome. The majority of these tumors arise in the uterus, though they…
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disease characterized by slowly progressive cerebellar ataxia (lack of control of the movements) and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. The disease involves the legs more than the arms. It usually starts…
Caroli disease
Caroli disease is a condition characterized by an abnormal widening of the intrahepatic bile ducts (the ducts that carry bile from the liver) and renal cysts. People affected by this condition experience recurrent episodes of cholestasis, stone development in the bile ducts, and bacterial cholangitis. In addition to the symptoms of Caroli disease, people affected…
Leukodystrophy
A leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to…
Wellesley Carmen French syndrome
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Limb-girdle muscular dystrophy type 2F
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 219 Definition A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated…
Mac Dermot Winter syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2083 Definition Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Visit the…
Zellweger syndrome
Zellweger syndrome is the most severe form of a spectrum of conditions called Zellweger spectrum. The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities.[1][2] Affected children also develop life-threatening problems in other organs and tissues, such…
Malignant peripheral nerve sheath tumor
A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops in the protective lining that covers nerves.[1][2][3] The first symptom of MPNST is often a lump or mass that increases in size, sometimes causing pain or a tingling sensation.[1] MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor…
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2B (CMT2B) is an inherited peripheral neuropathy with onset in the second or third decade of life. Common signs and symptoms include severe loss of sensation in the feet, lower legs, hands, and forearms; reduced tendon reflexes in the ankles; weakness in the lower limbs; and the loss of muscle tissue (muscle…
MASS phenotype
MASS phenotype is a familial connective tissue disorder similar to Marfan syndrome that affects different people in different ways.[1] MASS is an acronym for features of the disorder that may be present:[1][2][3] Mitral valve prolapse a heart condition in which the two valve flaps of the mitral valve in the heart do not close smoothly or evenly, and bulge…
MEGDEL syndrome
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Intrahepatic cholestasis of pregnancy
Intrahepatic cholestasis of pregnancy (ICP) is a disorder of the liver that occurs in women during pregnancy. Cholestasis is a condition that impairs the release of bile (a digestive juice) from liver cells. The bile then builds up in the liver, impairing liver function. Symptoms typically become apparent in the third trimester of pregnancy and can include…
Pyle disease
Pyle disease is a bone disorder characterized by knock knees (genu valgum), relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone (Erlenmeyer flask deformity), widening of the ribs and collarbones, flattening of the bones of the spine (platyspondyly), and thinning of outer (cortical) layer…
Chromosome 17q11.2 deletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97685 Definition 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number…
MIRAGE syndrome
MIRAGE syndrome is a condition characterized by Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy (intestinal problems). It was originally described in 11 patients who had growth restriction, intellectual disability, developmental delay, adrenal insufficiency resulting in skin hyperpigmentation, symptoms of salt loss, poorly developed and abnormal genitalia (small penis, absence of one…
Mosaic trisomy 9
Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body’s cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe…
Chromosome 4p duplication
Chromosome 4p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 4. 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…
Punctate inner choroidopathy
Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid (vascular layer) of the eye. It most commonly occurs in young, near-sighted (myopic) women. The symptoms and severity may vary from person to person. Symptoms may include a blind spot (scotomata), blurred vision, photopsia (perceived flashes of light), floaters, light sensitivity (photophobia), distorted…
Chromosome 9 inversion
Chromosomes are the structures found in every cell of the body that contain our DNA, the instructions that tell our body what to do. Humans have 23 pairs of chromosomes, which means that each human cell contains 46 chromosomes. Each chromosome has a p and q arm; p is the short arm and q is the…
X-linked myopathy with excessive autophagy
X-Linked Myopathy with Excessive Autophagy (XMEA) is a type of inherited myopathy (muscle disease) that mainly affects males. It is characterized by muscle weakness that begins in childhood that slowly worsens over time. Weakness involving the upper legs is typically noticed first, affecting activities such as running and climbing stairs. As the condition progresses, men with XMEA may experience weakness in their lower…
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a treatable inflammatory disease of the central nervous system. Specifically, it is a type of encephalomyelitis, which is a general term describing inflammation of the brain and spinal cord.[1] CLIPPERS predominantly affects the cerebellum, spinal cord, and brainstem – the part of the brain that directly…
Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3145 Definition This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. Epidemiology It has been described in two siblings. Differential diagnosis Differential diagnosis includes Cockayne syndrome (see…
Oculomaxillofacial dysostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1794 Definition Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon,…
Congenital nephrotic syndrome Finnish type
Congenital nephrotic syndrome Finnish type is a genetic condition of the kidney that begins early in development during pregnancy or within the first three months of life. The syndrome is characterized by a group of symptoms, including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling (nephrotic syndrome), which progresses rapidly to end-stage…
Osteoporosis-pseudoglioma syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2788 Definition Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Epidemiology The estimated prevalence is 1/2 000 000. Clinical description Additional clinical…
Renal coloboma syndrome
Renal coloboma syndrome is a rare condition that affects kidney and eye development. It is characterized by small underdeveloped kidneys, malformation of the optic nerve, and sometimes a hole (coloboma) in the retina. People with renal coloboma syndrome may progress to end stage kidney disease and some people experience vision loss. Less common symptoms include vesicoureteral reflux, multiple kidney cysts, loose…
Osteodysplasia familial Anderson type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2769 Definition Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis)…
Complex regional pain syndrome
Complex regional pain syndrome (CRPS) is a chronic pain condition that mainly affects the arms, legs, hands, and feet, but may involve the entire body. CRPS symptoms often begin after surgery or an injury.[1] The main feature of CRPS is continuous, intense pain that is out of proportion to the severity of the injury. The pain…
Pelger-Huet anomaly
Pelger-Huet anomaly (PHA) is an inherited blood condition in which the nuclei of several types of white blood cells (neutrophils and eosinophils) have unusual shape (bilobed, peanut or dumbbell-shaped instead of the normal trilobed shape) and unusual structure (coarse and lumpy). Click here to view a picture of these cells seen under the microscope. PHA…
Tufting enteropathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 92050 Definition Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure. Epidemiology No epidemiological data is available, however, the prevalence can be estimated…
Congenital hydrocephalus
Congenital hydrocephalus is when a child is born with an excessive accumulation of cerebrospinal fluid (CSF) in the brain. CSF is a clear fluid that surrounds the brain and spinal cord. This excess fluid causes an abnormal widening of spaces in the brain called ventricles (ventriculomegalia) and can create a harmful pressure on brain tissue.[1]…
Pachyonychia congenita
Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped. Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands (palmoplantar keratoderma). Additional features include white patches on the tongue and inside of the…
Congenitally corrected transposition of the great arteries
Congenitally corrected transposition of the great arteries is a rare heart defect that occurs when the ventricles and attached valves are switched. As a result, the aorta and the pulmonary artery are connected to the wrong lower heart chambers.[1][2] Click here to visit MayoClinic.com and view an image of this heart defect. While the oxygen-poor blood still flows…
Cor triatriatum
Cor triatriatum is an extremely rare congenital (present at birth) heart defect. The human heart normally has four chambers, two ventricles and two atria. The two atria are normally separated from each other by a partition called the atrial septum and the two ventricles by the ventricle septum. In cor triatriatum there is a small extra…
Scott Bryant Graham syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1514 Definition Craniodigital syndrome intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled’ facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit….
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…
X-linked creatine deficiency
X-linked creatine deficiency primarily affects development of the brain and nervous system. Symptoms can begin at any age, but usually begin in early childhood. These symptoms can include mild to severe intellectual disability, delayed speech development, behavioral problems, and seizures. The intellectual disability may get worse over time. X-linked creatine deficiency is caused by a SLC6A8…
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.
Cutis laxa, autosomal recessive type 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90349 Definition A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli). Epidemiology…
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…
Diffuse cutaneous mastocytosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79456 Definition Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ”peau d’orange” appearance and the accumulation of…
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…
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…
Multiple synostoses syndrome 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3237 Definition Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints. Visit…
Spondylodysplastic Ehlers-Danlos syndrome
Spondylodysplastic Ehlers-Danlos syndrome (EDS) is a subtype of the EDS, a group of genetic disorders of the connective tissue, which is the material between body cells that gives tissues form and strength. Ehlers-Danlos syndromes primarily affects the skin, hair, and skeletal system. Symptoms usually begin by childhood or adolescence. Like people with other types of EDS,…
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….
Familial dermographism
Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this…
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….
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare and poorly understood lung condition that is characterized by the abnormal overgrowth of certain cells in the lung (called pulmonary neuroendocrine cells) that receive signals from nerve cells (neurons) and produce hormones. People with this diagnosis may have no obvious symptoms or may exhibit features…
Marchiafava Bignami disease
Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain).[1][2] The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life.[2][3] Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures…
Adams-Oliver syndrome
Adams-Oliver syndrome (AOS) is a rare disease characterized by an abnormality of skin development (areas of missing skin on the scalp called aplasia cutis congenita) and malformations of the hands and feet (terminal transverse limbs defects). The aplasia cutis may involve only the skin or include the skull under the skin. The terminal transverse limb…
Drug induced dyskinesia
Drug induced dyskinesia is an involuntary movement disorder. Signs and symptoms include repetitive and irregular motions of the mouth, face, limbs and/or trunk.[1] Treatment with antipsychotic drugs and levodopa (commonly used to treat Parkinson disease) are well recognized causes of drug-induced dyskinesia.[1][2][3] Dyskinesia develops in around 40% of people with Parkinson’s disease who have been on levodopa treatment…
Adenoid cystic carcinoma
Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma, a type of cancer that begins in glandular tissues. It most commonly arises in the major and minor salivary glands of the head and neck.[1] It can also occur in the breast, uterus, or other locations in the body.[1][2] Symptoms depend on the tumor‘s location. Salivary gland…
3-beta-hydroxysteroid dehydrogenase deficiency
3-beta-hydroxysteroid dehydrogenase (3BHSD) deficiency is a form of congenital adrenal hyperplasia, a group of conditions that interfere with the body’s ability to make hormones. People with this condition lack many of the hormones made in the gonads (testes or ovaries) and the adrenal glands. There are three types of 3BHSD deficiency the salt-wasting form, non-salt-wasting form,…
Neural tube defects
Neural tube defects (NTDs) refers to a group of abnormalities resulting from abnormal development of the brain, spine and/or spinal column. During the development of an affected embryo, a structure called the neural tube does not close completely as it should, resulting in a hole somewhere along the spinal column. Specific examples of types of…
Stomach cancer
Stomach cancer, also called gastric cancer, is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the stomach. Most people with early stomach cancer have no signs or symptoms of the condition. In advanced stages, symptoms may include indigestion; nausea and vomiting; difficulty swallowing; feeling full after eating small amounts of…
Junctional epidermolysis bullosa
Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. JEB is separated into two categories: the Herlitz type and the Non-Herlitz type.[1] The Herlitz type of JEB is very severe, and individuals with this condition often do…
Penis agenesis
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Ectodermal dysplasia trichoodontoonychial type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1818 Definition Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation,…
Periodontal Ehlers-Danlos syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 75392 Definition Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. Clinical description EDS type VIII is the rarest form of EDS and…
Primary hyperoxaluria type 1
Primary hyperoxaluria type 1 (PH1) is a rare disorder that mainly affects the kidneys. It results from buildup of a substance called oxalate, which normally is filtered through the kidneys and excreted in the urine. In people with PH1, the accumulated oxalate is deposited in the kidneys and urinary tract. It combines with calcium, forming…
Pontocerebellar hypoplasia type 6
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166073 Definition Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and…
Alpha-ketoglutarate dehydrogenase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 31 Definition A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio….
GOSR2-related progressive myoclonus ataxia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280620 Definition A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia,…
Renier Gabreels Jasper syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93975 Definition An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). Epidemiology Prevalence is unknown but the syndrome…
Exercise-induced hyperinsulinemic hypoglycemia
Exercise induced hyperinsulinemic hypoglycemia is characterized by a sudden and exaggerated spike in insulin and drop in blood sugar levels. The condition is triggered by vigorous exercise. Signs and symptoms include fainting (syncope),[1] shakiness, nervousness, sweating, dizziness or light-headedness, sleepiness, confusion, difficulty speaking, anxiety, and weakness.[2]
Severe achondroplasia with developmental delay and acanthosis nigricans
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85165 Definition Severe achondroplasiadevelopmental delayacanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures…
Anaplastic astrocytoma
Anaplastic astrocytoma is a rare, cancerous (malignant) type of brain tumor that arises from star-shaped brain cells called astrocytes. These cells surround and protect nerve cells in the brain and spinal cord. An anaplastic astrocytoma usually develops slowly over time, but may develop rapidly. Signs and symptoms vary depending on the location and size of…
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