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Ulna metaphyseal dysplasia syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1837 Definition Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling…
Neuroferritinopathy
Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia)….
Thomas syndrome
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Immunodeficiency with hyper IgM type 1
Hyper IgM syndrome is a type of primary immunodeficiency syndrome. Primary immunodeficiency occurs when part of a person’s immune system is missing or does not work correctly. The bodies of people with primary immunodeficiency can’t get rid of germs or protect themselves from new germs as well as they should. Primary immunodeficiencies are inherited, meaning…
Behr syndrome
Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability.[1][2] Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner.[1] Treatment depends on the specific signs and symptoms seen in…
Bent bone dysplasia syndrome
Bent bone dysplasia syndrome is an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. [1] Unusual facial features include low-set ears, widely spaced eyes (hypertelorism), midface hypoplasia, prematurely erupted fetal teeth, and small chin (micrognathia). This condition is associated with…
Lentigo maligna melanoma
Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinned adults. The average age of diagnosis is 65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.[1]
Bobble-head doll syndrome
Bobble-head doll syndrome (BHDS) is a rare neurological condition that is typically first seen in childhood. The signs and symptoms of BHDS include characteristic up and down head movements that increase during walking and excitement and decrease during concentration. Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the…
Osteopathia striata with cranial sclerosis
Osteopathia striata with cranial sclerosis (OSCS) causes the bones to become unusually hard and thick. The severity of the condition and the symptoms vary significantly from person to person, even within the same family. Features of the condition are generally present at birth. Symptoms may include skeletal abnormalities at the ends of long bones, hardening (sclerosis) of…
X-linked intellectual disability, Schimke type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85285 Definition X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys,…
Schistosomiasis
Schistosomiasis is a disease caused by parasitic worms. Although the worms that cause schistosomiasis are not found in the United States, more than 200 million people are infected worldwide.[1] Infection occurs through contact with contaminated water. The parasite in its infective stages is called a cercaria. It swims freely in open bodies of water. On contact…
Hypophosphatasia
Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don’t begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities;…
Blepharonasofacial malformation syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1252 Definition Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Epidemiology Blepharonasofacial syndrome has been reported in 3…
Odontoma dysphagia syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2724 Definition Odontomadysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. Epidemiology Less than ten cases have been reported so far. Clinical description Three of the reported…
Nodular nonsuppurative panniculitis
Nodular nonsuppurative panniculitis describes a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet. In most people, this…
Inflammatory breast cancer
Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called “inflammatory” because the breast often looks swollen and red, or “inflamed.” The skin may also look dimpled like the skin…
Tetrasomy 21
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 96055 Definition Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with…
Limb deficiencies distal with micrognathia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1307 Definition The distal limb deficienciesmicrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Epidemiology It has…
Spondylometaphyseal dysplasia Algerian type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93316 Definition Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes…
Mesomelic dysplasia Kantaputra type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1836 Definition Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. Epidemiology It has been described in five families. Clinical description…
Camptodactyly, tall stature, and hearing loss syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85164 Definition Camptodactyly-tall staturescoliosishearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is…
Carbonic anhydrase VA deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 401948 Definition A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple…
Carey-Fineman-Ziter syndrome
Carey-Fineman-Ziter syndrome (CFZS) is a very rare genetic muscular disorder present at birth (congenital myopathy) characterized by facial weakness or paralysis, and a small or retracted chin and cleft palate (Pierre-Robin sequence), among other symptoms.[1][2][3] CFZS is caused by mutations in the gene MYMK that encodes a protein necessary for muscle development.[3] Treatment depends on the…
Limbic encephalitis
Limbic encephalitis represents a group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain. The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however, symptoms may also include confusion, psychiatric symptoms, and seizures. The symptoms typically develop over a few weeks or months, but they may evolve over a few…
Pyogenic granuloma
Pyogenic granuloma are small, reddish bumps on the skin that bleed easily due to an abnormally high number of blood vessels. They typically occur on the hands, arms, or face. While the exact cause of pyogenic granulomas is unknown, they often appear following injury.[1] Pyogenic granuloma is often observed in infancy and childhood, but may…
Yellow nail syndrome
Yellow nail syndrome is a very rare disorder characterized by three features: yellow nail discoloration, respiratory problems, and lower limb swelling (lymphedema). It usually occurs in people over age 50, but can occur in younger people.[1] In addition to being yellow, nails may lack a cuticle, grow very slowly, and become detached (onycholysis).[2] Respiratory problems…
Pontocerebellar hypoplasia type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97249 Definition Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and…
Cerebro facio thoracic dysplasia
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Male infertility with teratozoospermia due to single gene mutation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 399808 Definition Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia,…
Wildervanck syndrome
Wildervanck syndrome is a condition that affects the bones in the neck, the eyes, and the ears. It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder), and hearing loss.[1][2] Wildervanck syndrome occurs primarily in females. In most cases, Wildervanck syndrome occurs randomly for unknown…
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2502 Definition Metaphyseal dysostosisintellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in…
Chromosome 15, trisomy mosaicism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1706 Definition Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting…
Chromosome 15q25.2 microdeletion
Chromosome 15q25.2 microdeletion is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 15 at a location designated q25.2. The signs and symptoms vary but usually include mild to moderate intellectual disability and developmental delay. Some people may also have poor…
1q44 microdeletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 238769 Definition 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. Epidemiology It has been reported in four unrelated patients. Clinical description…
Morgellons
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Chromosome 3p duplication
Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. 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…
Chromosome 8q duplication
Chromosome 8q duplication is a rare chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 8. The symptoms and severity depend on the size and location of the duplication, which genes are involved, and whether other chromosome abnormalities are also present. Some features only occur when…
Myoclonus cerebellar ataxia deafness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2589 Definition This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Epidemiology So far, less than 10 cases have been reported in the literature. Clinical description The hearing loss…
Neutral lipid storage disease with myopathy
Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy). This condition is caused by mutations in the PNPLA2 gene. It is inherited in an autosomal recessive pattern.[1] There is…
Cleft palate short stature vertebral anomalies
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2015 Definition Cleft palateshort staturevertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted…
Orofaciodigital syndrome 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2919 Definition Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). Epidemiology Less than 20 patients (predominantly of Indian origin)…
Lynch syndrome
Lynch syndrome is a genetic disorder that causes an increased risk of developing certain types of cancer such as colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with Lynch syndrome also have a high risk of developing uterine cancer…
Omenn syndrome
Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive, lymphadenopathy (enlarged lymph nodes), eosinophilia, hepatosplenomegaly, and elevated serum IgE levels.[1][2][3] Patients are highly susceptible to infection and develop fungal, bacterial, and viral infections typical of SCID. In this…
Orbital varix
An orbital varix is an abnormally enlarged, thin walled vein that is in direct communication with the normal orbital vessels. Orbital varices can be primary (most likely present from birth and confined to the orbit) or secondary (acquired due to increased blood flow in association with additional venous malformations elsewhere in the body). Symptoms such as intermittent double vision…
WDHA syndrome
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Reticular dysgenesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 33355 Definition Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to…
Congenital pulmonary lymphangiectasia
Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder that affects the lungs. It is present from birth and usually becomes apparent in the first few days of life with respiratory failure.[1] It sometimes is apparent before birth with non-immune hydrops fetalis and pleural effusion (fluid in the lung).[1] Infants with CPL often develop severe, potentially life-threatening, respiratory…
Cortical blindness-intellectual disability-polydactyly syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1389 Definition A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, preand postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism…
Gorlin Chaudhry Moss syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2095 Definition Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies. Epidemiology To date, 7 cases of GCM…
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and worsen over time. Severity of symptoms and rate of progression can vary.[1] Symptoms may include delayed motor development, learning difficulties, upper-motor neuron dysfunction (spasticity, exaggerated reflexes, and Babinski signs),…
Cronkhite-Canada disease
Cronkhite-Canada syndrome is a rare gastrointestinal disorder characterized by widespread colon polyps, unhealthy looking (dystrophic) nails, hair loss (alopecia), darkening skin (such as on the hands, arms, neck and face), diarrhea, weight loss, stomach pain, and/or excess fluid accumulation in arms and legs (peripheral edema). The cause of the condition is not known. Treatment aims to control…
Hardikar syndrome
Hardikar syndrome is a very rare multiple congenital malformation syndrome characterized by obstructive liver and kidney disease, intestinal malrotation, genitourinary abnormalities, cleft lip and palate, pigmentary retinopathy (breakdown of the light-sensing tissue at the back of the eye), and congenital heart defects.[1][2] Only four cases have been reported in the medical literature.[2] The cause of…
Sickle cell hemoglobin D disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251370 Definition A rare, genetic hemoglobinopathy characterized by anemia and erythrocyte abnormalities including anisocytosis, poikilocytosis, target cells, and irreversibly sickled cells. Clinical course is similar to sickle cell disease, including acute episodes of pain, splenic…
Lubani Al Saleh Teebi syndrome
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HEC syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2119 Definition A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the…
Deafness nephritis anorectal malformation
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ANCA-associated vasculitis
Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of diseases (granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis and microscopic polyangiitis), characterized by destruction and inflammation of small vessels.[1] The clinical signs vary and affect several organs, such as the kidney, stomach, intestine, and lung. Skin lesions, such as purpura and urticaria, result when blood from small vessels leaks under the…
Deafness-infertility syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 94064 Definition Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility. Epidemiology It has been reported in fewer than 5 families. Etiology Male infertility is caused by abnormal spermatozoid morphology…
Onychodystrophy-anonychia
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15q24 microdeletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 94065 Definition 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by preand post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal,…
Silicosis
Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust.[1] There are three types of silicosis:[1][2] Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20 years) to low amounts of silica dust. Simple chronic silicosis may cause people to have difficulty breathing. Accelerated silicosis occurs after 5 to…
Desmosterolosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 35107 Definition Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol. Epidemiology Only 9 cases have been reported in the…
Diabetes mellitus type 1
Diabetes mellitus type 1 (DM1) is a condition in which cells in the pancreas (beta cells) stop producing insulin, causing abnormally high blood sugar levels. Lack of insulin results in the inability of the body to use glucose for energy and control the amount of sugar in the blood. DM1 can occur at any age,…
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