Rare Pulmonology News
Advertisement
Granular cell tumor
Granular cell tumors (GCTs) are soft tissue tumors that can occur anywhere in the body. They are thought to arise from the cells that surround and insulate the nerve cells in our body (Schwann cells). Most granular cell tumors are benign (non-cancerous), although some may be locally aggressive. Less than 2% are malignant (cancerous), but…
Pyridoxal 5′-phosphate-dependent epilepsy
Pyridoxal 5′-phosphate-dependent epilepsy is a rare genetic metabolic disorder. Babies born with this disorder are not able to make enough Vitamin B6 and this causes the baby to start having seizures soon after they are born (also called early onset or neonatal onset seizures). The normal drugs to treat seizures (anti-seizure medications or anti-convulsants) do…
Oculocerebrocutaneous syndrome
Oculocerebrocutaneous (OCC) syndrome is a rare genetic disorder characterized primarily by eye, skin, and brain malformations. It has been described mostly in males.[1][2][3] Findings in affected individuals may include orbital cysts, areas of underdeveloped (hypoplastic) or absent (aplastic) skin, and underdevelopment (hypoplasia) or absence (agenesis) of the band of nerve fibers that joins the brain’s hemispheres (corpus…
Proud syndrome
Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutations) in the ARX gene and is inherited…
Polymicrogyria
Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may…
Dermal eccrine cylindroma
Cylindromas are non-cancerous (benign) tumors that develop from the skin.[1] They most commonly occur on the head and neck and rarely become cancerous (malignant). An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited.[1] They usually begin to form during mid-adulthood as a…
Pure red cell aplasia
Pure red cell aplasia (PRCA) is a rare condition that affects the bone marrow. Bone marrow contains stem cells which develop into the red blood cells that carry oxygen through the body, the white blood cells that fight infections, and the platelets that help with blood clotting. In people with PRCA, the bone marrow makes…
Woodhouse Sakati syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3464 Definition Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. Epidemiology Approximately 30 patients from consanguineous Middle Eastern families, together with…
Isaacs’ syndrome
Isaacs’ syndrome is a rare neuromuscular disorder that is characterized by progressive muscle stiffness; continuously contracting or twitching muscles (myokymia); and diminished reflexes. Signs and symptoms generally develop between ages 15 and 60, with most people experiencing symptoms before age 40. Although the exact underlying cause is unknown, there appear to be hereditary and acquired…
Pseudo-Von Willebrand disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 52530 Definition Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD…
Diffuse panbronchiolitis
Diffuse panbronchiolitis (DPB) is a rare condition characterized by inflammation of the small airways of the lungs (bronchiolitis) and chronic sinusitis. It mainly occurs among the Japanese but has been reported in other populations. Symptoms typically develop anywhere from the teenage years to the fifth decade of life and are slowly progressive over months to…
Duane-radial ray syndrome
Duane-radial ray syndrome (DRRS) is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). Other features include bone abnormalities in the hands (malformed or absent thumbs, an extra thumb, or…
RHYNS syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 140976 Definition RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. Epidemiology So far, it has been described in four males. Genetic counseling Autosomal recessive transmission is likely but…
Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short trunk, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability…
Spinocerebellar ataxia 17
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98759 Definition Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include…
Schinzel Giedion syndrome
Schinzel Giedion syndrome (SGS) is a rare, severe condition that is present from birth and affects many parts of the body. Features of SGS include severe intellectual disability; a distinctive facial appearance; excessive hair growth (hypertrichosis); and various birth defects that may affect the skeletal system, genitourinary system; kidneys; and heart. Affected children usually do not survive…
Dysplasia epiphysealis hemimelica
Dysplasia epiphysealis hemimelica (DEH), or Trevor’s disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children.[1][2] Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms.[3][4] Due to the progressive nature of this disorder and…
NBIA/DYT/PARK-PLA2G6
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 199351 Definition A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. Epidemiology Prevalence is unknown. Only 14 cases have…
Spondyloepimetaphyseal dysplasia X-linked
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93349 Definition A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion…
Episodic ataxia
Episodic ataxia refers to a group of conditions that affect the central nervous system.[1] It affects specific nerve fibers that carry messages to and from the brain in order to control body movement.[1] The condition causes episodes of poor coordination and balance (ataxia).[2] Episodes may last from a few seconds to several hours.[1] During an episode, affected…
Sudden infant death with dysgenesis of the testes syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168593 Definition Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes. Epidemiology SIDDT syndrome has been described in 21 infants from nine separate sibships…
Ectodermal dysplasia Berlin type
empty
Split hand split foot malformation autosomal recessive
Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits.[1][2] The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing…
Elizabethkingia anophelis infection
Elizabethkingia anophelis infection is a condition caused by the bacterium, Elizabethkingia anophelis. Signs and symptoms of the infection include fever, shortness of breath, chills, or cellulitis. The bacteria can also cause respiratory tract illness, septicemia (bloodstream infection), and meningitis. Most affected people have other serious underlying health problems that may cause a weakened immune system….
Glycogen storage disease type 12
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 57 Definition Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe…
Syndactyly type 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93406 Definition Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. Epidemiology So far,…
Polyostotic osteolytic dysplasia, hereditary expansile
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85195 Definition A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton…
Alpers syndrome
Alpers syndrome is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia). [1] Most often Alpers syndrome is caused by mutations in the POLG gene. [2]
Tracheoesophageal fistula
Tracheoesophageal fistula (TEF) is a life-threatening condition in which there is an abnormal connection between the esophagus and trachea (windpipe). The esophagus and trachea run next to each other through the chest cavity. The esophagus carries food and saliva to the stomach, while the trachea carries air to the lungs. TEF can lead to severe…
Frontonasal dysplasia
Frontonasal dysplasia is a rare disease that results from abnormal development of the head and face before birth. Symptoms often vary, however more common symptoms include wide spaced eyes, a widow’s peak, and a broad nose. Less common features include eye abnormalities, missing the connection between the two halves of the brain (agenesis of the…
Trichoodontoonychial dysplasia
empty
Erythromelalgia
Erythromelalgia (EM) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary EM). Episodes may be triggered by increased body temperature, alcohol, and…
Glycogen storage disease type 3
Glycogen storage disease type 3 (GSDIII) is an inherited disorder caused by the buildup of glycogen in the body’s cells. This buildup impairs the function of certain organs and tissues, especially the liver and muscles. Symptoms typically begin in infancy and may include hypoglycemia, hyperlipidemia (excess of fats in the blood), and elevated blood levels…
Exogenous ochronosis
Exogenous ochronosis (EO) refers to the bluish-black discoloration of areas of the skin, especially the face, ear cartilage, the ocular (eye) tissue, and other body locations. It occurs as the result of exposure to malarial drugs, skin lightening creams and over-exposure the the sun.[1] Other than the skin discoloration, there are no other health effects. EO does…
Anal cancer
Anal cancer is a rare form of cancer that occurs due to abnormal and uncontrolled cell growth in the anus. Signs and symptoms of the condition include rectal bleeding; a lump in or near the anus; anal pain; itching; changes in bowel habits; and/or swollen lymph nodes. In most cases, the underlying cause of anal…
Quebec platelet disorder
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 220436 Definition Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds. Visit the Orphanet…
46, XY disorders of sexual development
A 46, XY disorder of sex development (DSD) is a condition in which an individual with one X chromosome and one Y chromosome in each cell, the pattern normally found in males, have genitalia that is not clearly male or female. Infants with this condition tend to have penoscrotal hypospadias, abnormal development of the testes, and…
Familial hyperthyroidism due to mutations in TSH receptor
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 424 Definition A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. Visit the Orphanet disease page for…
Zori Stalker Williams syndrome
empty
Atelosteogenesis type 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1190 Definition A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. Epidemiology Atelosteogenesis I (AOI) is a very rare infrequently…
Twin to twin transfusion syndrome
Twin to twin transfusion syndrome (TTTS) is a rare condition that occurs during a twin pregnancy when blood moves from one twin (the “donor twin”) to the other (the “recipient twin”) while in the womb.[1] TTTS is a complication that specifically occurs in identical (monozygotic) twin pregnancies that share the same “egg” sac (monochorionic) that may…
Fibrous dysplasia
Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. It may involve one bone (monostotic) or multiple bones (polyostotic).[1][2] Fibrous dysplasia can affect any bone in the body. The most common sites are the bones in the skull and face, the long bones in the…
Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and may lead to muscle…
Malignant hyperthermia arthrogryposis torticollis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2215 Definition An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of…
Ghosal hematodiaphyseal dysplasia syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1802 Definition Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. Epidemiology The exact prevalence is unknown. GHDD has been reported in unrelated families…
Globozoospermia
Globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertilize an…
Autosomal recessive candidiasis familial chronic mucocutaneous
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 457088 Definition A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph…
Osteopetrosis autosomal recessive 2
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,…
Granuloma annulare
Granuloma annulare (GA) is skin disorder that most often causes a rash with red bumps (erythematous papules) arranged in a circle or ring pattern (annular).[1][2][3] GA is not contagious and is not cancerous.[2] The rash may be localized or generalized. Localized GA is the most common form of GA (75% of the cases) and usually…
Mastocytosis cutaneous with short stature conductive hearing loss and microtia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2135 Definition Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one…
Baraitser-Winter syndrome
empty
Brachydactyly type A2
Brachydactyly type A2 is a very rare condition affecting the middle bone (middle phalanx) of the index finger and the second toe. Typically, people affected by brachydactyly type A2 have very short (hypoplastic) middle bones of these digits. In some individuals, the bone above the middle phalanx (distal phalanx) is shifted as well, so that…
Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital condition characterized by abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis); very small colon (microcolon); and decreased or absent intestinal movements (intestinal peristalsis). Usual clinical presentation is similar to other neonatal intestinal obstructions: bile stained vomiting and failure to pass meconium (the…
Bifid nose
A bifid nose is a relatively uncommon malformation that is characterized by the nose being divided into two parts. There is a large degree of variability in the severity of the condition, ranging from a minimally noticeable groove down the center of the nasal tip to a complete clefting of the underlying bones and cartilage, resulting…
Right ventricle hypoplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 439 Definition Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and…
Meige syndrome
Meige syndrome is a rare, neurological condition characterized by blepharospasm (abnormal movement of the eyelids); oromandibular dystonia (spasms in the jaw and tongue); and sometimes, cervical dystonia. Symptoms and severity can vary.[1][2] The exact cause of Meige syndrome is unknown, but researchers suspect that it is due to a combination of genetic and environmental factors….
Multicentric Castleman Disease
Multicentric Castleman disease (MCD) is a rare disease that affects the lymph nodes and related tissues. It is a form of Castleman disease that is “systemic” and involves multiple regions of lymph nodes (as opposed to unicentric Castleman disease, which involves a single lymph node or single region of lymph nodes). The signs and symptoms…
Brachycephalofrontonasal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1519 Definition Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow’s peak, heavy and broad eyebrows,…
Imperforate oropharynx-costo vetebral anomalies
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2759 Definition Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs,…
Rare Pulmonology News