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Legg-Calve-Perthes disease
Legg-Calve-Perthes disease (LCPD) occurs when blood supply to the ball of the thighbone in the hip (femoral head) is disrupted. Without an adequate blood supply, the bone cells die.[1] LCPD usually occurs in children between the ages of 4 and 10.[2] Early symptoms may include limping; pain in the hip, thigh or knee; and reduced range of…
Hair defect-photosensitivity-intellectual disability syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1408 Definition Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration. Epidemiology It has been described…
Spinocerebellar ataxia 11
Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as Babinski sign and inability to make to perform fine movements), peripheral neuropathy with numbness, weakness or…
Hantavirus pulmonary syndrome
Hantavirus pulmonary syndrome (HPS) is a severe, respiratory disease caused by infection with a hantavirus. People can become infected with a hantavirus through contact with hantavirus-infected rodents or their saliva, urine and/or droppings. Early symptoms universally include fatigue, fever and muscle aches (especially in the thighs, hips, and/or back), and sometimes include headaches, dizziness, chills,…
Spinocerebellar ataxia 8
Spinocerebellar ataxia type 8 (SCA8) is an inherited neurodegenerative condition characterized by slowly progressive ataxia (problems with movement, balance, and coordination). This condition typically occurs in adulthood and usually progresses over decades. Common initial symptoms include dysarthria, slow speech, and trouble walking. Some affected individuals experience nystagmus and other abnormal eye movements. Life span is typically not shortened. This condition is inherited in…
Congenital heart block
Congenital heart block is a rare condition that affects the heart’s electrical system, which controls and coordinates its pumping function. In infants affected by this condition, the electrical signal that spreads across the heart and causes it to contract and pump blood, is slowed or completely interrupted. This can interfere with the heart’s normal rate…
Spondyloepimetaphyseal dysplasia Shohat type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93352 Definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and…
Aneurysm of sinus of Valsalva
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1054 Definition Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents…
Donnai-Barrow syndrome
Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. People with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the brain). Other features may include diaphragmatic hernia, omphalocele, and/or…
Spastic paraplegia 16
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100997 Definition A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild…
DEAF1-associated disorders
DEAF1-related disorders are neurologic diseases that mainly present with intellectual disability, speech impairment and motor developmental delay.[1][2] Additional features that have being described include seizures, brain malformations, behavioral problems, autism, stomach and/or intestinal problems, and skeletal problems (flat foot or hip dislocation). Some people with DEAF1-related disorders may also have some features that resemble another disease…
Spasmodic dysphonia
Spasmodic dysphonia is a disease caused by involuntary movements of one or more muscles of the voice box (larynx). Signs and symptoms may range from occasional difficulty saying a word or two to substantial difficulty speaking that interferes with communication. Spasmodic dysphonia causes the voice to have a tight, strained, or strangled quality. While the…
Spondyloperipheral dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1856 Definition Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and…
Orofaciodigital syndrome 13
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 141330 Definition Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and…
Moebius syndrome
Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. Signs and symptoms of the condition may include weakness or paralysis of the facial muscles; feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; eye sensitivity; high or cleft palate; hearing problems;…
Achalasia microcephaly syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 929 Definition An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine…
Erythema multiforme
Erythema multiforme (EM) refers to a group of hypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications,…
Trehalase deficiency
Trehalase deficiency is a metabolic condition in which the body lacks an enzyme called trehalase and is not able to convert trehalose, a disaccharide (sugar composed of two monosaccharides) into glucose (sugar composed of one monosaccharide). Trehalose is found naturally in mushrooms, algae and insects. Trehalose may additionally be found in manufactured food products, medications, and cosmetics….
Fryns syndrome
Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many indiivduals with this condition have defects of the diaphragm such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move…
Acrofacial dysostosis Palagonia type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1787 Definition A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal…
Diffuse idiopathic skeletal hyperostosis
Diffuse idiopathic skeletal hyperostosis (DISH) is a common skeletal disorder characterized by unusual, new bone formation. The new bone forms most often where ligaments and tendons (connective tissues that connect bones) join bone (entheseal area), but there is also a generalized hardening of bones and bone overgrowth (hyperostosis).[1] Although these changes are most often seen in…
Distal myopathy with vocal cord weakness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 600 Definition Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles)…
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis is a skin condition characterized by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms.[1][2] Although middle-aged women are most likely to develop this condition, it may also affect men, older adults and even infants. The exact cause of acute febrile neutrophilic dermatosis often isn’t known. It…
Gigantomastia
Gigantomastia is a rare condition characterized by excessive breast growth. It may occur spontaneously, during puberty or pregnancy, or while taking certain medications.[1][2] There is no universally accepted definition of gigantomastia, but the majority of medical articles refer to a particular weight of excess breast tissue.[3] Symptoms of gigantomastic may include mastalgia (breast pain), ulceration/infection, posture problems, back…
Adenoma of the adrenal gland
Adenomas of the adrenal gland are non-cancerous (benign) tumors on the adrenal gland. Most do not cause any signs or symptoms and rarely require treatment. However, some may become “active” or “functioning” which means they produce hormones, often in excess of what the adrenal glands typically produce. High levels of these hormones can lead to…
Keratosis follicularis dwarfism and cerebral atrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2339 Definition A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability,…
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 95699 Definition Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal…
Adult T-cell leukemia/lymphoma
Adult Tcell leukemia/lymphoma (ATL) is is a rare and aggressive T-cell lymphoma that is linked to infection by the human T-cell lymphotropic virus 1 (HTLV-1).[1][2] The exact mechanism by which HTLV-I infection causes the ATL is unknown. The clinical features of ATL include generalized swelling of the lymph nodes (lymphadenopathy), increased liver and spleen size…
Noble Bass Sherman syndrome
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Alagille syndrome
Alagille syndrome is a genetic syndrome that can affect the liver and other parts of the body. The liver problems result from having fewer small bile ducts than normal in the liver. This leads to bile building-up inside the liver, which in turn causes liver scarring and damage.[1] Signs and symptoms of Alagille syndrome are generally…
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism is when your body is unable to respond to parathyroid hormone, which is a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. The symptoms are very similar to hypoparathyroidism (when parathyroid hormone levels are too low). The main symptoms are low calcium levels and…
Autosomal dominant palmoplantar keratoderma and congenital alopecia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1010 Definition A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Epidemiology To date, ten individuals with a clinical diagnosis of autosomal dominant palmoplantar…
Alopecia totalis
Alopecia totalis (AT) is a condition characterized by the complete loss of hair on the scalp. It is an advanced form of alopecia areata a condition that causes round patches of hair loss.[1] Although the exact cause of AT is unknown, it is thought to be an autoimmune condition in which the immune system mistakenly…
Arthrogryposis multiplex congenita, distal, X-linked
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1145 Definition X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face…
Hereditary hyperekplexia
Hereditary hyperekplexia is a nervous system disorder (neurological disorder), that is usually noticed shortly after birth. Symptoms in a newborn include generalized muscle stiffness while awake (hypertonia) and exaggerated startle reflex to unexpected loud noises, visual stimuli, or touch. Following the startle reaction, infants experience a brief period in which they are very rigid and are…
Anaplastic ependymoma
Anaplastic ependymoma is a type of ependymoma, which is a tumor that forms when cells in the central nervous system (including the brain and spinal cord) begin to multiply rapidly. An ependymoma is anaplastic if the cells grow very quickly and are significantly unusual in shape. Ependymomas can occur at any age. When ependymomas occur in children, they are more frequently located in…
Felty’s syndrome
Felty’s syndrome is a rare, potentially serious disorder that is defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (splenomegaly) and a decreased white blood cell count (neutropenia), which causes repeated infections.[1] Although some individuals with Felty’s syndrome are asymptomatic, others can develop serious and life-threatening infections.[2] Symptoms of Felty’s syndrome, in addition to those…
Familial thyroglossal duct cyst
Familial thyroglossal duct cyst is a rare hereditary form of a benign congenital neck mass, known as a thyroglossal duct cyst (TDC). TDC is the most common congenital midline neck mass in the pediatric population.[1] They usually present in children, around 6 years of age, but rarely, they may present in adulthood.[2] They present as a…
Johnson Munson syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1112 Definition An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal…
Fox-Fordyce disease
Fox-Fordyce disease is a chronic skin disease most common in women aged 13-35 years.[1] It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas.[2] The cause is unknown, but heat, humidity,…
Immunotactoid or fibrillary glomerulopathy
Immunotactoid or fibrillary glomerulopathy is a term that includes two conditions: immunotactoid glomerulopathy and fibrillary glomerulonephritis, which are uncommon causes of glomerular disease. Most experts feel that fibrillary glomerulonephritis and immunotactoid glomerulopathy are separate disorders but they have many similarities and some experts group these disorders together. Fibrillary glomerulonephritis and immunotactoid glomerulopathy can be distinguished from each…
Autosomal recessive centronuclear myopathy
Autosomal recessive centronuclear myopathy (AR-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AR-CNM, specifically, affected people generally begin showing signs and symptoms during infancy or early childhood. The features of the condition can vary but may include progressive muscle weakness, foot abnormalities, high-arched…
Fitz-Hugh-Curtis syndrome
Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease pain in the lower abdomen and vaginal…
Corticosteroid-sensitive aseptic abscesses
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 54251 Definition Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders. Epidemiology It is a rare disease with 49 cases documented so far. Prevalence is unknown. Clinical description It affects…
Galactosemia
Galactosemia, which means “galactose in the blood,” refers to a group of inherited disorders that impair the body’s ability to process and produce energy from a sugar called galactose. When people with galactosemia injest foods or liquids containing galactose, undigested sugars build up in the blood. Galactose is present in many foods, including all dairy products…
Myelocerebellar disorder
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2585 Definition A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and…
Hemolytic uremic syndrome, atypical, childhood
Hemolytic uremic syndrome, atypical, childhood is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It is often caused by a combination of environmental and genetic factors. Genetic…
Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome (GCPS) is a congenital disorder that affects development of the limbs, head, and face. Findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head size (macrocephaly).[1]The features of this syndrome are highly variable, ranging…
Dominant dystrophic epidermolysis bullosa
Dominant dystrophic epidermolysis bullosa (DDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. DDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later…
GRIN2B related syndrome
GRIN2B related syndrome is a genetic disorder that causes developmental delay and intellectual disability. Intellectual disability ranges from mild to severe. Other symptoms may include low muscle tone (hypotonia), seizures, behavior problems including autistic features, abnormal movements, a very small head (microcephaly), and developmental regression.[1][2][3] Some children have brain malformations that can be seen in…
Glomus jugulare tumors
A glomus jugulare tumor develops when cells in nerves near the temporal bone of the skull begin to rapidly increase in number, forming a mass. This tumor gets its name from the nerves, called glomus bodies, and their location in a small opening in the temporal bone, known as the jugulare foramen. Glomus jugulare tumors are included in…
Autosomal recessive bestrophinopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139455 Definition A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). Epidemiology The prevalence of…
Spastic paraplegia 11
Spastic paraplegia 11 (SPG11) is a form of hereditary spastic paraplegia. People with SPG11 experience worsening muscle stiffness leading to eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms that may include intellectual disability, speech difficulties (dysarthria), and reduced bladder control.[1] Additionally, the tissue connecting the left and right halves…
Gray zone lymphoma
Gray zone lymphoma is a rare type of lymphoma, cancer of a part of the immune system called the lymph system. It is called “gray zone” lymphoma because it has features intermediate between classical Hodgkin lymphoma and diffuse large B-cell lymphoma (DLBCL), but cannot be assigned specifically to either type.[1][2] In many cases, the original diagnosis…
Hemoglobin E disease
Hemoglobin E (HbE) disease is a mild, inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition may have very mild anemia, but the condition typically does not cause any symptoms. It is inherited in an autosomal recessive manner and is caused by a mutation in the HBB gene. The mutation that causes hemoglobin…
Bangstad syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1227 Definition Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH,…
Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease
Hepatocyte nuclear factor 1 Beta-associated diseases (HNF1B-associated diseases) are a group of genetic conditions that affect the kidney as well as other organ systems.[1][2] The most common symptoms are associated with kidney abnormalities. Other signs and symptoms may include diabetes at a young age, genital abnormalities, and problems with pancreas and liver function. Not everyone…
Battaglia-Neri syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1948 Definition Epilepsymicrocephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once,…
Beemer Ertbruggen syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1237 Definition Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad…
McKusick Kaufman syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2473 Definition McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations. Visit the Orphanet disease page…
Myosin storage myopathy
Myosin storage myopathy is an inherited condition that affects the muscles. Signs and symptoms generally begin during infancy or early childhood; however, some affected people may not develop symptoms until early adulthood and there are even reports of people who are asymptomatic into their 40s. Myosin storage myopathy is primarily characterized by muscle weakness with…
Bilateral frontoparietal polymicrogyria
Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes…
Nephrocalcinosis
Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to the condition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe…
Birk-Barel syndrome
Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the…
Hypoxanthine guanine phosphoribosyltransferase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 206428 Definition Hypoxanthineguanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. Epidemiology Prevalence…
Rare Pulmonology News