Rare Rheumatology News
Advertisement
Aquagenic urticaria
Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria. The exact underlying cause of…
Scleromyxedema
Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various…
Camptodactyly arthropathy coxa vara pericarditis syndrome
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare condition which causes joint abnormalities that begin at birth or during early childhood. The name comes from the main symptoms, including permanent bending of the fingers (camptodactyly), joint disease (arthropathy), and changes in the hip joint resulting in shortened legs and a possible limp (coxa vara). Some people with…
Sirenomelia
Sirenomelia is a birth defect in which affected infants are born with a single lower extremity or with two legs that are fused together. The symptoms and physical findings associated with the condition vary greatly among affected individuals and may include malformations of the spine and skeletal system (commonly with vertebrae either absent or defective); absent or underdeveloped internal and…
Familial atrial fibrillation
Familial atrial fibrillation is an inherited heart condition that disrupts the heart’s rhythm. It is characterized by erratic electrical activity in the heart’s upper chambers (the atria), causing an irregular response in the heart’s lower chambers (the ventricles). This causes a fast and irregular heartbeat (arrhythmia). Signs and symptoms may include dizziness, chest pain, palpitations,…
Atypical Rett syndrome
Atypical Rett syndrome is a neurodevelopmental disorder that is diagnosed when a child has some of the symptoms of Rett syndrome but does not meet all the diagnostic criteria. Like the classic form of Rett syndrome, atypical Rett syndrome mostly affects girls. Children with atypical Rett syndrome can have symptoms that are either milder or more severe…
Progeroid syndrome Petty type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2963 Definition Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide…
Primary familial and congenital polycythemia
Primary familial and congenital polycythemia (PFCP) is an inherited blood disease that causes uncontrolled production of red blood cells (erythrocytes). This leads to an increased volume of red blood cells compared to the total blood volume (erythrocytosis). It may also lead to increased total blood volume or increased blood thickness (hyperviscosity), both of which can…
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1B (PHP1B) is a disorder characterized by lack of response (resistance) to parathyroid hormone (PTH) and other hormones such as thyroid-stimulating hormone (TSH). Resistance mainly occurs in the kidneys, causing low blood calcium levels (hypocalcemia), high blood phosphate levels (hyperphosphatemia), and elevated PTH levels (hyperparathyroidism). Some people with PHP1B also have elevated TSH levels due to TSH resistance.[1][2]…
Pityriasis lichenoides chronica
Pityriasis lichenoides chronica (PLC) is a skin disease that causes the development of small, scaling, raised spots (papules) on the skin. PLC is the relatively mild form of the disease pityriasis lichenoides. A person with PLC tends to have multiple episodes of papules on the skin lasting for months or a few years, meaning the…
Post Polio syndrome
Post polio syndrome (PPS) is a condition that affects polio survivors years after recovery from the initial polio illness.[1] Symptoms and severity vary among affected people and may include muscle weakness and a gradual decrease in the size of muscles (atrophy); muscle and joint pain; fatigue; difficulty with gait; respiratory problems; and/or swallowing problems.[1][2] Only a…
Gray platelet syndrome
Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness…
Growth hormone deficiency
Growth hormone deficiency (GHD) is characterized by abnormally short height due to lack (or shortage) of growth hormone. It can be congenital (present at birth) or acquired. Most cases are identified in children. Although it is uncommon, growth hormone deficiency may also be diagnosed in adults.[1] Too little growth hormone can cause short stature in children, and changes in muscle…
Bardet-Biedl syndrome 12
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 110 Definition Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. Epidemiology Its prevalence in Europe is estimated at between 1/125,000 and 1/175,000. Clinical description This disorder is characterized by a combination of clinical signs:…
Pyoderma gangrenosum
Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn’s disease, polyarthritis (an inflammation of several joints together),…
Orotic aciduria type 1
Orotic aciduria type I (OA1), also known as hereditary orotic aciduria, is a rare condition characterized by elevated levels of orotic acid in the urine.[1] It typically becomes apparent in the first months of life with megaloblastic anemia, as well as delays in physical and intellectual development.[1][2] OA1 is caused by changes (mutations) in the UMPS gene and inheritance is…
Bietti crystalline corneoretinal dystrophy
Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and loss of visual acuity. Bietti…
Syndactyly type 3
Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. There is evidence that SD3 is caused…
Hypomyelination and congenital cataract
Hypomyelination and congenital cataract is a very rare disease characterized by cloudy coverings of the eye that are present at birth (congenital cataracts) and neurologic impairment that becomes apparent after the first year of life. The neurologic impairment is progressive and presents as ataxia and spasticity. Affected individuals may lose the ability to walk. Signs…
2-methylbutyryl-CoA dehydrogenase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency is an organic acid disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. The buildup can cause a variety of…
Spinocerebellar ataxia 37
empty
Microhydranencephaly
Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). In most cases, the underlying cause is unknown….
Epilepsy occipital calcifications
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1459 Definition Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. Epidemiology CEC was first described in 1992 and…
Spondyloenchondrodysplasia with immune dysregulation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1855 Definition Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous…
Hypertrichosis universalis
empty
Bjornstad syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 123 Definition Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Epidemiology Less than fifty cases have been reported so far. Clinical description The hearing loss usually becomes evident very early in…
Blastomycosis
Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body. The infection may affect the skin,…
Spondylometaphyseal dysplasia with cone-rod dystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85167 Definition Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual…
Idiopathic inflammatory myopathy
Idiopathic inflammatory myopathy refers to a group of conditions that affect the skeletal muscles (muscles used for movement). Although the condition can be diagnosed at any age, idiopathic inflammatory myopathy most commonly occurs in adults between ages 40 and 60 years or in children between ages 5 and 15 years. Signs and symptoms of the…
Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome (BOS) affects the skin and bones causing skin lesions and spots on the bones. The skin lesions are due to abnormalities in different types of connective tissue. The bone spots are painless areas of increased bone density seen on X-ray. People with BOS may have only skin, only bone or both skin and bone…
Spondyloepimetaphyseal dysplasia with multiple dislocations
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93360 Definition Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment…
Preaxial polydactyly type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93337 Definition Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits…
Tetraploidy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3305 Definition Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is…
Kozlowski-Krajewska syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3082 Definition Intellectual disabilitypolydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures,…
Brucellosis
Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals.[1][2] Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial…
Iridogoniodysgenesis type 2
Iridogoniodysgenesis type 2 is a rare condition that affects the eyes. People with this condition are born with malformations of the iris (the colored part of the eye) and cornea, which eventually lead to early-onset glaucoma. The irides of affected people are unusually dark. For example, studies of the condition often describe ‘brown’ irides as…
Tyrosinemia type 3
Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the HPD gene. Characteristic features…
Pilocytic astrocytoma
Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea,…
Chondrocalcinosis 2
Chondrocalcinosis 2 is a rare disease characterized by the accumulation of calcium pyrophosphate dihydrate (CPP) crystals in and around the joints. A buildup of these crystals can lead to joint pain and damage that is progressive (worsens over time).[1][2] Signs and symptoms of the disease include chronic joint pain or sudden, recurrent episodes of pain, as well…
Keratoconus
Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over time. The earliest symptom…
Klebsiella infection
Klebsiella is a type of bacteria commonly found in nature. In humans, the bacteria are often present in parts of the digestive tract where they do not generally cause problems. In the United States, Klebsiella pneumoniae and Klebsiella oxytoca are the two strains responsible for most human illnesses. Many Klebsiella infections are acquired in the…
Glucose-galactose malabsorption
Glucose-galactose malabsorption (GGM) is a genetic condition in which the sugars glucose and galactose cannot be properly absorbed by the body. Infants with GGM develop severe diarrhea resulting in life-threatening dehydration, acidosis, and weight loss in the first few weeks of life. GGM is caused by mutations in the SLC5A1 gene and is inherited in an autosomal recessive manner. This gene normally makes a…
Cardiomyopathy cataract hip spine disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1345 Definition Cardiomyopathy cataract hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly….
Levic Stefanovic Nikolic syndrome
empty
Cerulean cataract
Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood.[1] They are usually bilateral and progressive.[2] Infants can be asymptomatic, but may also be visually impaired from birth…
Lipedema
Lipedema is characterized by increased enlargement of both legs due to deposits of fat beneath the skin. Symptoms of lipedema usually occur in women and begin around times of hormonal change, such as puberty or menopause. Symptoms may include enlargement of the upper legs, arms, pain, and easy bruising. The cause of lipedema is unknown. Many…
Dysequilibrium syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1766 Definition Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. Epidemiology To date, more than 50 individuals have been reported in the…
Manitoba oculotrichoanal syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2717 Definition Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad…
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth disease type 2P (CMT2P) is a subtype of Charcot-Marie-Tooth caused by changes (mutations) in the LRSAM1 gene. The onset of symptoms commonly occurs between 20 and 40 years of age and the disease seems to be relatively mild and benign. Symptoms may include mild loss of sensation in the fingertips and severe loss of sensation…
Childhood acute lymphoblastic leukemia
Childhood acute lymphoblastic leukemia (ALL) is a type of cancer of the blood and bone marrow, and the most common type of cancer in children. In children with this condition, too many stem cells made by the bone marrow become lymphoblasts, B lymphocytes, or T lymphocytes. These cells do not function normally and have trouble…
Mesomelic dysplasia Savarirayan type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85170 Definition Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening…
Chromosome 10p deletion
Chromosome 10p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 10. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features may affect many parts of the body and may include…
Metatarsus adductus
Metatarsus adductus is a common foot deformity where the bones of the front of the foot bend or turn in toward the body. It may affect one or both feet. MedlinePlus provides an online image of metatarsus adductus. Newborns with metatarsus adductus may also have a problem called developmental dysplasia of the hip. This can…
Chromosome 13q deletion
Chromosome 13q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 13. 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…
Schisis association
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 63862 Definition Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These…
Ring chromosome 19
empty
Monoclonal mast cell activation syndrome
Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to systemic mastocytosis but without the itchy skin patches known as urticaria…
Olmsted syndrome
Olmsted syndrome, also known as mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques, is a very rare congenital (present from birth) disorder causing abnormal growth and thickening of skin. The most common affected areas are the palms of the hand, the soles of the feet, and the area around the eyes and mouth. Other symptoms include…
Rare Rheumatology News