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Scapuloperoneal syndrome, neurogenic, Kaeser type
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Camptobrachydactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1319 Definition Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well…
Fallopian tube cancer
Fallopian tube cancer develops in the tubes that connect a woman’s ovaries and uterus. It is very rare and accounts for only 1-2% of all gynecologic cancers. Fallopian tube cancer occurs when normal cells in one or both tubes change and grow in an uncontrolled way, forming a mass called a tumor. Cancer can begin in any of…
DPM3-CDG (CDG-Io)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 263494 Definition DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term). Visit the Orphanet…
Cardiofaciocutaneous syndrome
Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart, face, skin, and hair. People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms of CFC syndrome overlap significantly with those of two other conditions, Costello syndrome and Noonan syndrome….
Lattice corneal dystrophy type 3A
Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and…
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a condition that affects brain development and function. Individuals with this condition have an enlarged brain (megalencephaly) and an abnormality of the white matter in the brain (leukoencephalopathy). White matter consists of nerve fibers covered by a fatty substance called myelin that promotes the rapid transmission of nerve…
Caudal appendage deafness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1123 Definition Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Visit the Orphanet disease page for…
Charles Bonnet syndrome
Charles Bonnet syndrome (CBS) is a disease in which visual hallucinations occur as a result of vision loss. CBS is not thought to be related to psychosis or dementia and people with CBS are aware that their hallucinations are not real.[1][2][3] The hallucinations people with CBS experience can be described as simple or complex. Simple hallucinations…
Ependymoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251636 Definition Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of…
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. In general, CMT1E…
Multiple carboxylase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 148 Definition Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing…
Childhood brain stem glioma
Childhood brain stem glioma is a rare condition in which abnormal cells develop in the tissues of the brain stem (the part of the brain connected to the spinal cord). The condition can be benign (noncancerous) or malignant (cancerous). The severity of the condition and the associated signs and symptoms vary based on the size…
Chromophobe renal cell carcinoma
Chromophobe renal cell carcinoma is a rare subtype of the most common form of kidney cancer called renal cell carcinoma (RCC). This type of cancer forms in the cells lining the small tubules in the kidney. These tubules help filter waste from the blood, making urine. Chromophobe RCC accounts for about 5% of all RCC cases, and it is frequently…
Chromosome 12q duplication
Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) 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…
Nodular regenerative hyperplasia
Nodular regenerative hyperplasia (NRH) is a rare liver disease in which normal liver tissue transforms into multiple, small clusters (nodules) of replicating liver cells (regenerating hepatocytes).[1][2][3] It can develop in people of all ages but is more common in older adults.[2] NRH often does not cause signs or symptoms (so is likely underdiagnosed), but in…
Ring chromosome 18
Ring chromosome 18 is a rare chromosome abnormality in which the ends (arms) of chromosome 18 join together to form a ring shape. When a ring chromosome forms, genetic material can be lost from either arm or both arms, causing various signs and symptoms. While most people with ring chromosome 18 have the ring chromosome in…
Mitochondrial genetic disorders
Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy). People with these conditions can present at any age with almost any affected body system; however, the brain, muscles, heart, liver, nerves, eyes, ears and kidneys are the…
Chromosome 20p deletion
Chromosome 20p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 20. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Extremely small deletions (microdeletions) involving the distal end of…
Chromosome 4q deletion
Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the…
Muscular dystrophy
Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of…
Chronic graft versus host disease
Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient’s body.[1] Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to…
Familiar chronic mucocutaneous candidiasis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1334 Definition Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans. Visit…
Congenital lipoid adrenal hyperplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90790 Definition A disorder that is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. Epidemiology The prevalence is unknown but it is…
Nevus comedonicus syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 64754 Definition A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a…
Numeric sex chromosome variations
Numeric sex chromosome variations refers to differences in the number of sex chromosomes that may be present in an individual’s body cells. Males typically have one X chromosome and one Y chromosome in each body cell with a total of 46 chromosomes (46, XY); females typically have two X chromosomes in each body cell (46, XX). Numeric…
Oligoastrocytoma
Oligoastrocytoma is a brain tumor that forms when two types of cells in the brain, called oligodendrocytes and astrocytes, rapidly increase in number to form a mass. These brain cells are known as glial cells, which normally protect and support nerve cells in the brain. Because an oligoastrocytoma is made up of a combination of two cell…
Coffin-Siris syndrome
Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped “pinky” toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, DPF2 or SMARCE1 genes.[1] Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it…
Renal oncocytoma
Renal oncocytoma is a benign (noncancerous) growth of the kidney. They generally do not cause any signs or symptoms and are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. Some people with renal oncocytoma will have abdominal or flank pain; blood in the urine; and/or an abdominal mass….
Holzgreve syndrome
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PHACE syndrome
PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other birth defects.[1] People with PHACE syndrome may have Posterior fossa brain malformations, Hemangioma, Arterial lesions (blood vessel abnormalities in the head or neck), Cardiac (heart) abnormalities/aortic coarctation, and Eye abnormalities.[1] Symptoms and symptom severity…
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83639 Definition A syndrome with combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces…
Laryngomalacia
Laryngomalacia is an abnormality of the voice box (larynx) that leads to the inward collapse of the airway when air is drawn into the lungs (inspiration). It usually becomes apparent at birth or shortly after birth. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back…
Marden-Walker syndrome
Marden-Walker syndrome (MWS) is a genetic condition affecting the connective tissue. MWS is very rare and information about this condition is based on less than 50 people. Features may include distinctive facial features, a cleft or high-arched palate, a small or receding jaw (micrognathia), fixed bone joints (contractures or arthrogryposis), and growth delay. Other symptoms may…
Q fever
Q fever is a worldwide disease with acute and chronic stages caused by the bacteria known as Coxiella burnetii. Cattle, sheep, and goats are the primary reservoirs although a variety of species may be infected. Organisms are excreted in birth fluids, milk, urine, and feces of infected animals and are able to survive for long…
Craniosynostosis Philadelphia type
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CHARGE syndrome
CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), restricted growth and development, genital abnormality, and ear abnormality.[1] Signs and symptoms vary among people with this condition; however, infants often have multiple life-threatening medical conditions.[2] The diagnosis of CHARGE syndrome is based on a combination of…
Cutis gyratum acanthosis nigricans craniosynostosis
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Hereditary diffuse leukoencephalopathy with spheroids
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of HDLS is leukoencephalopathy, which is damage to a type of brain tissue called white matter. Another common finding is axon damage due to swellings called spheroids. Damage to myelin and axons is thought to…
Cystic hygroma
A cystic hygroma is a fluid-filled sac that results from a blockage in the lymphatic system. It is most commonly located in the neck or head area, but can be located anywhere in the body. It may be discovered in a fetus during a pregnancy ultrasound, or it may be apparent at birth as a soft bulge…
Daneman Davy Mancer syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2091 Definition Multinodular goiter cystic kidney polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. Epidemiology It has been described in two sibs and…
Hemimegalencephaly
Hemimegalencephaly is a rare malformation involving one side of the brain.[1][2] It may occur alone or in association with other syndromes such as Proteus syndrome, tuberous sclerosis, linear sebaceous nevus syndrome, neurofibromatosis, Sturge-Weber syndrome, or Klippel-Trenaunay syndrome.[1] Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development.[2][3]…
Vohwinkel syndrome
Vohwinkel syndrome is an inherited condition that affects the skin. People with the “classic form” generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers…
Absence of fingerprints congenital milia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1658 Definition A rare syndrome syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two…
Erythrokeratoderma ”en cocardes”
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 315 Definition A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or ‘en cocardes’) plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent…
Chorea-acanthocytosis
Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Chorea-acanthocytosis is caused…
Polycystic ovarian syndrome
Polycystic ovarian syndrome (PCOS) is a health problem that can affect a woman’s menstrual cycle, ability to have children, hormones, heart, blood vessels, and appearance. Women with this condition typically have high levels of hormones called androgens, missed or irregular periods, and many small cysts in their ovaries. The cause of PCOS is unknown, but probably involves a…
Pfeiffer Mayer syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2921 Definition Preaxial polydactyly-colobomataintellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is…
Epidermolysis bullosa acquisita
Epidermolysis bullosa acquisita (EBA) is a rare autoimmune disorder that causes the skin to blister in response to minor injury. Common areas of blistering include the hands, feet, knees, elbows, and buttocks. It can also affect the mouth, nose, and eyes. Some affected people have other health problems such as Crohn’s disease, systemic lupus erythematosus,…
Polycystic kidneys, severe infantile with tuberous sclerosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 88924 Definition Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)….
Acromegaloid facial appearance syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 965 Definition A rare multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and,…
Plasmacytoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86855 Definition Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of…
Porokeratosis of Mibelli
Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened…
DOCK2 Deficiency
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Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 402020 Definition A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes…
Double inferior vena cava
Double inferior vena cava is a vein abnormality that is present from birth (congenital). Individuals with this anomaly have two inferior vena cavas instead of one. The inferior vena cava carries oxygen-poor blood from the lower parts of the body into the heart. Double inferior vena cava does not cause any symptoms. It is usually diagnosed…
AP-4-Associated Hereditary Spastic Paraplegia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280763 Definition Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly,…
Pulmonary atresia with ventricular septal defect
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1207 Definition Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD)…
Hereditary proximal myopathy with early respiratory failure
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ROHHAD
ROHHAD is an acronym for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD). It is a rare, life-threatening syndrome that affects the autonomic nervous system (which controls involuntary actions like breathing and your heartbeat) and the endocrine system. As the name suggests, the key features include dramatic weight gain over a sixto…
Dysosteosclerosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1782 Definition Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly. Epidemiology Less than 30 cases have been reported in the literature to date. Clinical description The disease is characterized by sclerosis of…
Adult polyglucosan body disease
Adult polyglucosan body disease (APBD) affects the nervous system.[1] People with this disease usually begin to show signs after the age of 40.[2] Signs and symptoms include trouble walking due to peripheral neuropathy and muscle weakness and stiffness. People with APBD also develop problems with bladder control due to damage to the bladder’s nerves (neurogenic bladder)….
Toriello-Carey syndrome
Toriello-Carey syndrome is a rare condition characterized by multiple congenital anomalies. Signs and symptoms can vary but may include distinctive craniofacial features, brain abnormalities, Pierre Robin sequence, swallowing difficulties, heart defects, low muscle tone (hypotonia), and moderate to severe intellectual disability.[1] The genetic cause is not fully understood, but there is evidence it may be caused…
Ruvalcaba syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3121 Definition Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature,…
Erdheim-Chester disease
Erdheim-Chester disease (ECD) is a rare condition that can affect many parts of the body.[1] It has been diagnosed in children, but it most commonly affects adults.[2] ECD causes the over-production of immune cells called histiocytes, which then accumulate in tissues and organs in the body. Parts of the body that may be involved include the long…
Rare Rheumatology News