Rare Rheumatology News
Advertisement
GAPO syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2067DefinitionA multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations.EpidemiologyApproximately 38 patients have been reported in literature since the first description in 1947.Clinical descriptionPatients have a short stature…
GATA2 deficiency
GATA2 deficiency is a rare genetic disease that can present as several distinct syndromes: dendritic cell, monocyte, B, and natural killer lymphoid deficiency (monocytopenia and mycobacterial infection syndrome); familial myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML); deafness-lymphedema-leukemia syndrome (Emberger syndrome); or natural killer (NK) cell deficiency.[1] Symptoms are varied and include severe infections (most commonly viral or…
Autosomal dominant candidiasis familial chronic mucocutaneous
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 391487 Definition An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis)…
Spinocerebellar ataxia with dysmorphism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1185 Definition Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive. Visit the Orphanet…
Stiff skin syndrome
Stiff skin syndrome (SSS) is a rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures).[1] The onset of signs and symptoms can range from presenting at birth through childhood.[2] Other signs…
Glucagonoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97280 Definition Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities,…
Cerebelloparenchymal disorder 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1170 Definition The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often…
Osteopetrosis autosomal recessive 7
Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth.[1][2] Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature,…
Thyrotoxic periodic paralysis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79102 Definition Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. Epidemiology It is most common in Asian males (with male-to-female ratios ranging…
Griscelli syndrome type 3
empty
MYD88 deficiency
MYD88 deficiency is a rare primary immunodeficiency characterized by an increased susceptibility to certain types of bacterial infections. People affected by this condition generally have abnormally frequent and life-threatening infections caused by pyogenic bacteria (such as Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa). However, their immune response to other common bacteria, viruses, fungi, and parasites…
Bain type of X-linked syndromic intellectual disability
Bain type of X-linked syndromic intellectual disability is a genetic syndrome characterized by developmental delay, intellectual disability, autism, hypotonia, and seizures. Other symptoms may include loss of acquired skills (developmental regression), behavioral problems, stiffness or tightness of the muscles (spasticity), problems coordinating movements, small head, unusual facial features, and short stature. Some individuals also develop…
Vogt-Koyanagi-Harada disease
Vogt-Koyanagi-Harada disease (VKH disease) affects the eyes, ears, nervous system, and skin. The symptoms of VKH occur in different phases. The early symptoms include headaches, eye pain, and dizziness. These are followed by hearing loss and inflammation of the eye (panuveitis). Later symptoms include development of white patches of skin and hair (vitiligo), hair loss…
Microcornea, glaucoma, and absent frontal sinuses
empty
Knuckle pads, leuconychia and sensorineural deafness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2698 Definition A rare, syndromic genetic deafness disease characterized by symmetric or asymmetirc knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness. Visit…
Yemenite deaf-blind hypopigmentation syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3214 Definition Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. Epidemiology The syndrome was described in 1990 in two patients from the same…
Herpes simplex encephalitis
Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis). People affected by this condition may experience a headache and fever for up to 5 days, followed by personality and behavioral changes; seizures; hallucinations; and altered levels of consciousness. Without early diagnosis and treatment, severe brain damage or…
Waardenburg syndrome type 4
Waardenburg syndrome type 4, also known as Waardenburg-Shah syndrome, is a genetic condition that can cause hearing loss; changes in coloring (pigmentation) of the hair, skin, and eyes; and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. Waardenburg syndrome type 4 is further divided into types 4A, 4B, and 4C based on their genetic…
Primary hypomagnesemia with secondary hypocalcemia
Familial hypomagnesemia with secondary hypocalcemia is a disease characterized by very low magnesium levels in the blood. The disease begins during the first months of life with generalized and recurrent seizures which do not improve with usual treatment. Additional features include tetany (spasms of the hands and feet, cramps, spasm of the voice box (larynx),…
Horner’s syndrome
Horner’s syndrome is a rare condition characterized by miosis (constriction of the pupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face).[1][2] It is caused by damage to the sympathetic nerves of the face. The underlying causes of Horner’s syndrome vary greatly and may include a tumor, stroke, injury, or underlying disease…
Night blindness-skeletal anomalies-dysmorphism syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1390 Definition This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia). Epidemiology It has been described in two brothers. Clinical…
Morgagni-Stewart-Morel syndrome
Morgagni-Stewart-Morel (MSM) syndrome is a disorder characterized by thickening of the frontal bone of the skull (hyperostosis frontalis interna), as well as obesity and excessive hair growth (hypertrichosis).[1] Other signs and symptoms may include seizures, headaches, diabetes insipidus, and sex gland disturbances.[2] The cause of Morgagni-Stewart-Morel syndrome is not fully understood. Some instances of dominant inheritance have…
Ring dermoid of cornea
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 91481 Definition Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations…
Hypomandibular faciocranial dysostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1790 Definition Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis,…
IRVAN syndrome
IRVAN syndrome is an acronym for “idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome,” a condition that primarily affects the eyes. Although this condition can occur in people of all ages, it is most commonly diagnosed in the third or fourth decade of life.[1][2] The severity of the condition varies from person to person with some affected people experiencing…
IRAK-4 deficiency
IRAK-4 deficiency is a condition that affects the immune system (primary immunodeficiency). It causes recurring severe infections by a type of bacteria called pyogenic bacteria. Individuals with IRAK-4 deficiency seem to be particularly susceptible to infections caused by bacteria called Streptococcus pneumoniae. The deficiency is caused by mutations in the IRAK4 gene and is inherited in an autosomal recessive pattern. Treatment…
8p inverted duplication/deletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 96092 Definition 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and…
Taurodontism
Taurodontism is a disorder of tooth development and occurs most commonly in permanent molar teeth.[1][2] It refers to an elongation of the pulp chamber of the tooth, which can cause the tooth to lie deep in the jaw (aveolar process).[3] At this time the cause of taurodontism is unknown.
Campomelia Cumming type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1318 Definition Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. Epidemiology The syndrome has been reported in eight infants from four different families. Clinical description Skeletal features include tetramelic…
Satoyoshi syndrome
Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head…
DOLK-CDG (CDG-Im)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 91131 Definition DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome…
Symphalangism with multiple anomalies of hands and feet
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3246 Definition Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or…
Leydig cell hypoplasia
Leydig cell hypoplasia (LCH) is a disorder that impairs male sexual development. It causes incomplete development of Leydig cells, which are cells in the testicles (testes) that secrete male sex hormones (androgens). These hormones are needed for normal male sexual development as reproductive organs are forming (before birth), as well as during puberty. A genetic male with…
Martsolf syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1387 Definition This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Epidemiology Less than 20 cases have been described in the literature so far. Clinical description Besides the three…
Corticosteroid-binding globulin deficiency
Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension).[1][2] Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation. When cortisol…
Corneodermatoosseous syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3194 Definition A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkertosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis,…
Lymphomatoid granulomatosis
Lymphomatoid granulomatosis is a rare disorder characterized by an overproduction of white blood cells known as B lymphocytes. These B cells can build up in the tissues of the body, causing damage to the blood vessels.[1] In many cases of lymphomatoid granulomatosis, the abnormal B cells contain the Epstein-Barr virus. The disease is more common…
Cerebellar degeneration
Cerebellar degeneration refers to the deterioration of neurons (nerve cells) in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex (the thin layer of cells covering the brain), and…
Char syndrome
Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal…
Chilaiditi syndrome
Chilaiditi syndrome is a medical condition in which a portion of the colon is abnormally positioned between the liver and the diaphragm. Symptoms vary, but may include abdominal pain, nausea, vomiting, and small bowel obstruction. In many cases, there are no symptoms and the interposition is an incidental finding. When no symptoms are present, the…
Thiamine responsive megaloblastic anemia syndrome
Thiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence. This syndrome is called “thiamine-responsive” because the anemia can be treated with high doses of vitamin B1 (thiamine). This condition is caused by…
Cholesteatoma
Cholesteatoma is an abnormal growth of skin in the middle ear behind the eardrum. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infections.[1][2] Individuals with this condition usually experience a painless discharge from the ear.[3] Hearing loss, dizziness, and facial muscle paralysis are rare but can result…
Retinochoroidal coloboma
Retinochoroidal coloboma is an eye abnormality that occurs before birth. It is characterized by missing pieces of tissue in both the retina (the light-sensitive tissue lining the back of the eye) and choroid (the blood vessel layer under the retina). In many cases, retinochoroidal coloboma does not cause symptoms. However, complications such as retinal detachment…
Koolen de Vries syndrome
Koolen de Vries syndrome is a disorder characterized by developmental delay, mild to moderate intellectual disability, congenital malformations, and behavioral features.[1][2] Developmental delay is noted from an early age. Other problems include weak muscle tone (hypotonia) in childhood, recurrent seizures (epilepsy), and distinctive facial features. Males with Koolen de Vries syndrome often have undescended testes (cryptorchidism). Other symptoms may…
Mitochondrial DNA depletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 35698 Definition The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the…
Chromosome 1q deletion
Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur…
Mucopolysaccharidosis
Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Seven distinct forms and numerous…
Chromosome 4q duplication
Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental…
Muscular phosphorylase kinase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 715 Definition Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance. Epidemiology The disease is very rare with less than 30 patients…
Chromosome 9q deletion
Chromosome 9q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 9. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur…
Chronic myeloproliferative disorders
Chronic myeloproliferative disorders are a group of slow-growing blood cancers in which the bone marrow makes too many abnormal red blood cells, white blood cells, or platelets, which accumulate in the blood. The type of myeloproliferative disorder is based on whether too many red blood cells, white blood cells, or platelets are being made. Sometimes the body…
Nephrosis deafness urinary tract digital malformation
empty
Clear cell renal cell carcinoma
Clear cell renal cell carcinoma is a cancer of the kidney. The name “clear cell” refers to the appearance of the cancer cells when viewed with a microscope.[5258] Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass). Though the exact cause of clear cell renal…
Zechi Ceide syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217017 Definition Zechi-Ceide syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears,…
Oguchi disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 75382 Definition Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon. Epidemiology Oguchi disease is a very rare condition with approximately 50 cases…
Subaortic stenosis short stature syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3191 Definition A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease,…
Coloboma of optic nerve
Coloboma of the optic nerve is a congenital eye abnormality in which the optic nerve (which carries images of what the eye sees to the brain) is incompletely formed. The condition may occur in one or both eyes. The degree of visual impairment varies widely depending on the severity and structures involved. Serous detachments of…
Painful legs and moving toes syndrome
Painful legs and moving toes (PLMT) syndrome is an adult-onset, rare disorder characterized by pain in the feet or legs and twisting movements of one or more toes. The patients usually seek medical attention because of the pain. The syndrome may be unilateral or bilateral. Identical toe movements may occur without pain, referred to as:…
Patterson-Stevenson-Fontaine syndrome
Patterson-Stevenson-Fontaine syndrome is a very rare syndrome characterized by abnormal development of the bones and tissues of the face (mandibulofacial dysostosis) and limb abnormalities. Physical features of this condition may include a recessed jaw (retrognathism), cleft palate, and anomalies of the external ears. Limb abnormalities may include the absence of toes, clefts in the feet,…
Congenital femoral deficiency
Congenital femoral deficiency (CFD) refers to a spectrum of congenital (present at birth) malformations of the thigh bone (femur) due to incomplete or abnormal development. CFD may affect one leg (most commonly) or both legs. Severity can range from minor shortening of the femur (appearing normal), to complete absence of much or all of the femur. Deficiency…
Cryptogenic organizing pneumonia
Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli).[1] Signs and symptoms may include flu-like symptoms such as cough, fever, malaise, fatigue and weight loss. COP often affects adults in midlife (40 to 60 years of…
Pituitary hormone deficiency, combined 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 231720 Definition Non-acquired combined pituitary hormone deficiencysensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent…
Rare Rheumatology News