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Immunotactoid glomerulopathy
Immunotactoid glomerulopathy, also known as glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GOMMID), is a very uncommon cause of glomerular disease. It is related to a similar disease known as fibrillary glomerulopathy, which is more common. Both disorders probably result from deposits derived from immunoglobulins, but in most cases the cause is idiopathic (unknown). On electron…
Brachydactyly long thumb type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2946 Definition Brachydactyly long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder…
MEHMO syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85282 Definition MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died…
Secretory breast carcinoma
Secretory breast carcinoma (SBC) is a very rare, slow-growing type of breast cancer. It was originally referred to as “juvenile breast carcinoma” because it was first recognized in children and adolescents.[1][2] However, many cases reported in the last several decades have occurred in adults of all ages.[1][3] SBC may occur in males or females but like…
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an inherited disorder in which damage to the small blood vessels in the brain leads to stroke and other impairments.[1][2][3] Individuals with CARASIL usually develop symptoms between 20 and 30 years of age.[3] Symptoms may include: muscle stiffness, personality changes, and memory loss. People…
RFT1-CDG (CDG-In)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 244310 Definition RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a…
Shprintzen omphalocele syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3164 Definition Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities….
LEOPARD syndrome
LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the features of the syndrome:(L)entigines dark spots on the skin(E)lectrocardiographic conduction defects abnormalities of the electrical activity of the heart (O)cular hypertelorism widely spaced eyes(P)ulmonary stenosis – obstruction of the normal outflow of blood from the right ventricle of the heart…
Lemierre syndrome
Lemierre syndrome is a rare and potentially life-threatening complication of bacterial infections that usually affects previously-healthy adolescents and young adults. It most commonly develops in association with a bacterial throat infection, but it may develop in association with an infection involving the ears, salivary glands (parotitis), sinuses, or teeth; or in association with an Epstein-Barr…
Cartilage-hair hypoplasia
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. Signs and symptoms may vary among affected individuals. People with this condition are also at an increased risk of developing cancer,…
Listeria infection
A listeria infection or listeriosis is an infection caused by a bacteria known as Listeria monocytogenes. It mainly affects newborn infants, elderly patients, pregnant women and patients who have low immunity.[1] Listeria can be spread by several methods. A common cause is ingestion (food-borne transmission) of unpasteurized milk or contaminated vegetables. It can also be transmitted from…
Celiac disease
Celiac disease is an autoimmune disorder that damages the small intestine and inhibits absorption of nutrients. People with celiac disease cannot tolerate gluten, a protein in wheat, rye, barley, and in some products such as medicines, vitamins, and lip balms. When affected people eat food with gluten, or use a product with gluten, the immune…
Lymphocytic vasculitis
Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease…
COACH syndrome
COACH syndrome is a condition that mainly affects the brain and liver. Most individuals with COACH syndrome have intellectual disability, liver problems (fibrosis), and difficulty with movement (ataxia). Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus).[1] This condition is inherited in an autosomal recessive manner; 70%…
Madokoro Ohdo Sonoda syndrome
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Cervical hypertrichosis peripheral neuropathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2218 Definition Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members…
Hypertrophic neuropathy of Dejerine-Sottas
Hypertrophic neuropathy of Dejerine-Sottas (Dejerine-Sottas syndrome) is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease (sometimes called type 3) that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards the limbs closest to the body.[1][2][3] Depending on the specific gene that…
Microphthalmia syndromic 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85275 Definition Microphthalmia-ankyloblepharonintellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to…
Congenital chloride diarrhea
Congenital chloride diarrhea (CCD) is a lifelong condition that causes large, watery stools (diarrhea) that contain an excess of chloride.[1] Those with CCD have diarrhea even before birth.[2] Signs of CCD before birth may be detected with an ultrasound, and may include an increased amount of amniotic fluid (polyhydramnios) and enlarged (dilated) intestinal loops in…
Van Den Bosch syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3417 Definition Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait…
Chromosome 10p duplication
Chromosome 10p duplication is a chromosome abnormality that occurs when there is an extra 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 duplication and which genes are involved. The size of the duplication can range from a tiny piece of the chromosome arm,…
Microcephaly-cardiomyopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2515 Definition Microcephalycardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. Visit…
15q11.2 microdeletion
15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely.[1] The most common features include developmental, motor, and language delays; behavior and emotional problems; attention…
Orofaciodigital syndrome 12
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 141327 Definition Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia),…
Chromosome 3q29 microduplication syndrome
Chromosome 3q29 microduplication syndrome is a rare chromosome abnormality characterized by having an extra copy of material (duplication) on a specific part of the long arm of chromosome 3. The signs and symptoms vary among affected individuals, but the most common features include mild or moderate intellectual disability and microcephaly. The condition may occur for the…
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2958 Definition An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. Epidemiology It has been described in eight males from…
Chromosome 6q deletion
Chromosome 6q 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 6. 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…
Steatocystoma multiplex
Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. The condition can be caused by mutations in the KRT17…
Microduplication Xp11.22-p11.23 syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217377 Definition Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. Epidemiology To date, twelve patients have been described. Clinical description All patients show moderate to severe intellectual deficit…
N syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2608 Definition N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, Tcell leukaemia, cryptorchidism, hypospadias and spasticity. Epidemiology Three cases have been described so far. Etiology Mutations in DNA polymerase alpha, leading to increased…
Tolosa Hunt syndrome
Tolosa Hunt syndrome (THS) is a rare condition characterized by painful ophthalmoplegia (paralysis and/or weakness of the eye muscles). Onset can occur at any age.[1] Signs and symptoms include a constant pain behind the eye; decreased eye movements; and signs of cranial nerve paralysis such as drooping of the upper eyelid (ptosis), double vision (diplopia),…
Neuronal ceroid lipofuscinosis 9
Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of…
Ochronosis
Ochronosis is the bluish-black or grey-blue discoloration of the skin, especially the ear cartilage, the ocular (eye) tissue, and other body locations. It can occurs in individuals with alkaptonuria, an inherited metabolic disorder; or because of exposure to various substances. Ochronosis typically occurs in adults, but has been reported in children. Ochronosis associated with alkaptonuria is caused by…
Craniometaphyseal dysplasia, autosomal recessive type
Autosomal recessive craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bone in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the…
Osteogenesis imperfecta type III
Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. Other signs and…
Cole disease
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Polycystic ovarian syndrome
Polycystic ovarian syndrome (PCOS) is a health problem that can affect a woman’s menstrual cycle, ability to have children, hormones, heart, blood vessels, and appearance. Women with this condition typically have high levels of hormones called androgens, missed or irregular periods, and many small cysts in their ovaries. The cause of PCOS is unknown, but probably involves a…
Oral submucous fibrosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 357154 Definition Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in…
Pfeiffer Mayer syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2921 Definition Preaxial polydactyly-colobomataintellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is…
Osteopoikilosis
Osteopoikilosis is a condition in which many small, roundish spots are found in the bones, particularly near the joints. These spots are areas of bone tissue that did not develop properly and are exceptionally dense. They usually do not cause symptoms and do not change over time. Osteopoikilosis can be diagnosed at any age and is often detected by chance when…
Polycystic kidneys, severe infantile with tuberous sclerosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 88924 Definition Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)….
Pediatric acute-onset neuropsychiatric syndrome
Pediatric acute-onset neuropsychiatric syndrome (PANS) is a condition defined by sudden onset of obsessive-compulsive symptoms and/or severe eating restrictions, along with at least two other cognitive, behavioral, or neurological symptoms.[1] Examples of other symptoms include anxiety, depression, tics, personality changes, decline in school performance, and sensory sensitivities.[2][3] Symptoms typically begin during childhood but may begin at any age.[4]…
Small patella syndrome
Small patella syndrome (SPS) is a rare syndrome that mainly affects the way certain bones are formed (developed). A person with SPS usually has very small kneecaps (hypoplastic patella) or may have no kneecaps at all (aplastic). The hip (pelvic) bones may be weak, and the bones of the feet may not have formed correctly….
Plasmacytoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86855 Definition Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of…
Linear porokeratosis
Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.[1] The patches usually develop in infants or young children, but they sometimes develop in adults.[2] Patches may be on one area of the body (localized) or on multiple areas (generalized). They usually develop in a pattern over the…
Porokeratosis of Mibelli
Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened…
Congenital thrombotic thrombocytopenic purpura
Congenital thrombotic thrombocytopenic purpura (congenital TTP) is a blood disorder in which blood clots form in the small blood vessels throughout the body. Signs and symptoms typically develop in infancy or early childhood, but in some cases they do not develop until adulthood, particularly during pregnancy in women or after an infection or vaccination. Signs…
Pulmonary atresia with ventricular septal defect
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1207 Definition Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD)…
ROHHAD
ROHHAD is an acronym for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD). It is a rare, life-threatening syndrome that affects the autonomic nervous system (which controls involuntary actions like breathing and your heartbeat) and the endocrine system. As the name suggests, the key features include dramatic weight gain over a sixto…
Ruvalcaba syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3121 Definition Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature,…
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Ankyloblepharon-ectodermal defectscleft lip/palate syndrome (AEC syndrome) is a form of ectodermal dysplasia, a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. The most common feature is missing patches of skin (erosions) on the scalp, neck, hands, and feet. The skin erosions can lead to infection, scarring, and…
Ulnar-mammary syndrome
Ulnar-mammary syndrome (UMS) is a rare genetic syndrome, present from birth, that affects the development of several parts of the body. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects (including abnormal or incomplete development…
X-linked congenital generalized hypertrichosis
X-linked congenital generalized hypertrichosis is a rare congenital (present at birth) skin disease. It is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with mild facial abnormalities (including nasal openings that are tipped upwards and moderate protrusion of the jaw) and occasional…
Sezary syndrome
Sezary syndrome is an aggressive form of cutaneous T-cell lymphoma which is a group of disorders that occur when T-cells (a type of white blood cell) become cancerous and affect the skin. It is characterized by a widespread red rash that may cover most of the body, the presence of cancerous T cells (called Sezary…
Dahlberg Borer Newcomer syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1563 Definition Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial…
HELLP syndrome
HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy.[1] It is named for 3 features of the condition: Hemolysis, Elevated Liver enzyme levels, and Low Platelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery.[2] A wide range of non-specific symptoms…
SHORT syndrome
SHORT syndrome is a condition characterized by multiple abnormalities that affect several parts of the body. The term SHORT is an acronym with each letter representing a common feature in affected individuals: (S) short stature; (H) hyperextensibility of joints and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the…
Spastic paraplegia 8
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100989 Definition A pure or complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may…
20p12.3 microdeletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 261295 Definition 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism. Epidemiology It has been clinically and molecularly characterized in 3 patients. Clinical…
Acanthosis nigricans muscle cramps acral enlargement
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Focal dermal hypoplasia
Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. The skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. They also may abnormalities in the nails, hands, and feet. Some of the eye findings present may include small…
Acral peeling skin syndrome
Acral peeling skin syndrome is a genetic skin disorder characterized by painless peeling of the top layer of skin. “Acral” refers to the fact that the peeling is most apparent on the hands and feet, although peeling may also occur on the arms and legs.[1][2] The peeling is usually present from birth, but can appear…
Toxocariasis
Toxocariasis is a parasitic condition caused by the larvae of two species of Toxocara roundworms: Toxocara canis (from dogs) and Toxocara cati (from cats). Many people who are infected with Toxocara never develop any signs or symptoms of the condition. In those who do become sick, symptoms may present as: Ocular Toxocariasis when the larvae…
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