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XK aprosencephaly

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Q04.3

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3469DefinitionXK aprosencephaly syndrome is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects…

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Fibrochondrogenesis

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Q77.7

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2021 Definition Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small…

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Fibular hypoplasia scapulo pelvic dysplasia absent

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Vascular Ehlers-Danlos syndrome

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Vascular Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs.[1][2] Vascular EDS is usually caused by a change (mutation)…

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Atrial septal defect ostium primum

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Frontonasal dysplasia phocomelic upper limbs

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Bainbridge-Ropers syndrome

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Giant axonal neuropathy

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Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses). The condition typically appears in infancy or early childhood with severe peripheral motor and sensory neuropathy (affecting movement and sensation in the arms and legs)….

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Double discordia

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Geleophysic dwarfism

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Q87.1

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2623 Definition A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy”). Epidemiology Fewer than 30 cases have been reported to date. Clinical…

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Brachyolmia type 3

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Q76.3

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93304 Definition A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints…

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Gershoni-Baruch syndrome

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Autosomal dominant intellectual disability 40

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Spinocerebellar ataxia autosomal recessive 3

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Glycogen storage disease type 0, muscle

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Osteopetrosis autosomal recessive 1

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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,…

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Posterior column ataxia with retinitis pigmentosa

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Posterior column ataxia with retinitis pigmentosa (PCARP) is a genetic condition that affects vision and the nervous system. It is characterized by a loss of cells in the light sensitive tissue in the back of the eye (retinitis pigmentosa), abnormalities in the body’s unconscious perception of movement and spatial orientation (proprioception), and muscle weakness and…

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Hennekam syndrome

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Q87.8

Hennekam syndrome is a rare condition that affects the lymphatic system. Signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family. Affected people generally experience lymphangiectasia (lymphatic vessels that are abnormally expanded), lymphedema, and distinctive facial features (i.e. a flattened appearance to…

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Bannayan-Riley-Ruvalcaba syndrome

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Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition that leads to the growth of both non-cancerous and cancerous tumors. Symptoms of BRRS may include large head size, increased birth weight, developmental delay, and intellectual disability. Other symptoms include the appearance of non-cancerous tumors in the digestive system, fatty tumors under the skin, and freckles on the…

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Hereditary alpha tryptasemia syndrome

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Hereditary alpha tryptasemia syndrome is a condition characterized by high blood tryptase levels, and by several symptoms associated with multiple organ systems. These symptoms may include allergic-like symptoms (skin itching, flushing, hives, or anaphylaxis); gastrointestinal symptoms such as bloating, abdominal pain, diarrhea and/or constipation (often diagnosed as irritable bowel syndrome), heartburn, reflux, and difficulty swallowing;…

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Barrett esophagus

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Barrett esophagus is a condition in which the lining of the esophagus (the tube that carries food from the throat to the stomach) is replaced by tissue that is similar to the lining of the intestines. Although this change does not cause any specific signs or symptoms, it is typically diagnosed in people who have…

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Hyper IgE syndrome

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Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES).[1] Click on…

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Brachydactyly type A1

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93388 Definition Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges. Epidemiology Only a few pedigrees…

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Hip subluxation

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Benign eccrine spiradenoma

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Homocystinuria

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Homocystinuria refers to a group of inherited disorders in which the body is unable to process certain building blocks of proteins (amino acids) properly. This leads to increased amounts of homocysteine and other amnio acids in the blood and urine. The most common type of genetic homocystinuria, called CBS deficiency, is caused by the lack…

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Camptocormism

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Camptocormia, camptocormism or “bent spine syndrome,” (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek “kamptos” (to bend) and “kormos” (trunk) BSS was initially considered, especially in wartime, as a result of a psychogenic…

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Multicystic renal dysplasia, bilateral

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97364 Definition Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large,…

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Biemond syndrome 2

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Prolidase deficiency

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Prolidase deficiency is a rare metabolic condition characterized by skin lesions, recurrent infections, unusual facial features, variable intellectual disability, enlargement of the liver (hepatomegaly) with elevated liver enzymes, and enlargement of the spleen (splenomegaly).[1][2][3] Symptoms typically present during infancy and vary greatly among affected individuals.[2] The condition is caused by mutations in the PEPD gene. It is inherited in…

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Idiopathic basal ganglia calcification childhood-onset

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Blepharoptosis myopia ectopia lentis

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1259 Definition This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia. Epidemiology It has been described in three members of one family (in a mother and her two daughters). Genetic counseling…

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Isochromosome Yp

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Bone dysplasia Azouz type

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Macular telangiectasia type 2

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Macular telangiectasia (MacTel) type 2 is an eye disease affecting the macula that causes loss of central vision. MacTel develops when there are problems with the tiny blood vessels (capillaries) around the fovea, an area in the center of the macula where eyesight is the sharpest. In MacTel type 2, the capillaries around the fovea widen…

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Brachydactyly Mononen type

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Q87.5

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2565 Definition Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild…

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Infant epilepsy with migrant focal crisis

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Bradyopsia

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 75374 Definition Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. Epidemiology It has been described in five unrelated patients with symptoms…

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Rabson-Mendenhall syndrome

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Rabson-Mendenhall syndrome (RMS) is a mild form of INSR-related severe syndromic insulin resistance, an inherited disorder associated with the inability to regulate blood sugar.[1][2] Insulin is a hormone produced by the pancreas that normally regulates blood sugar levels by promoting the movement of sugar (glucose) into cells for energy production or into the liver and…

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Typhus

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Natal teeth, intestinal pseudoobstruction and patent ductus

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Kennedy disease

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Kennedy disease is a gradually progressive, neuromuscular disorder characterized by wasting of the proximal muscles (those closer to the trunk) and bulbar muscles (those of the face and throat).The condition mainly affects males, with onset between the ages of 30 and 60.[1] Early symptoms may include tremor, muscle cramps, and muscle twitching. This is followed…

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Jejunal atresia with renal adysplasia

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Cabezas syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85293 Definition An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability with significant speech impairment, and short stature in male patients. Variable additional clinical features have been associated, including macrocephaly, seizures, tremor, gait…

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Kaufman oculocerebrofacial syndrome

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Q87.0

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2707 Definition Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been…

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CANOMAD syndrome

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G61.8

CANOMAD syndrome is a rare chronic immune-mediated demyelinating polyneuropathy. CANOMAD stands for Chronic Ataxic Neuropathy Ophthalmoplegia IgM paraprotein Cold Agglutinins Disialosyl antibodies. Signs and symptoms of CANOMAD may include loss of muscle, tendon, and joint sensation, abnormal gait (walk), ataxia, tingling sensation on the skin around the mouth or extremities, paralysis of eye muscles, difficulty swallowing…

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Kosztolanyi syndrome

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Q87.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1129 Definition A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia…

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Carbamoyl phosphate synthetase 1 deficiency

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Carbamoyl phosphate synthetase I deficiency (CPS1 deficiency) is a genetic disorder that causes episodes of toxic levels of ammonia in the blood (hyperammonemia). Symptoms include poor feeding, vomiting, lack of energy, low body temperature and weak muscle tone. These usually occur in the first few days of life. High levels of ammonia can lead to complications…

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Krukenberg carcinoma

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Carcinoid tumor childhood

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Left ventricular noncompaction

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Left ventricular noncompaction (LVNC) is a rare heart condition. In LVNC the inside wall of the heart is spongy or grooved, instead of smooth. Signs and symptoms of LVNC vary, but may cause life-threatening abnormal heart rhythms and weakness of the heart muscle. Treatments, such as blood thinning medication and defibrillators, are available to control…

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Carnitine palmitoyl transferase 1A deficiency

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E71.3

Carnitine palmitoyltransferase I deficiency (CPT1A deficiency) is an inherited metabolic condition that prevents the body from converting certain fats (long-chain fatty acids) into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is required by cells to process fats and produce energy. Symptoms of this condition often appear early in life…

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Lethal chondrodysplasia Seller type

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Cataract skeletal anomalies

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Linear and whorled nevoid hypermelanosis

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L81.4

Linear and whorled nevoid hypermelanosis (LWNH) is a rare benign condition affecting skin pigment occurring in newborns or early infancy. The primary symptom is swirling streaks of darkened (hyperpigmented) skin, mainly on the trunk and limbs. The dark streaks appear along the lines of normal skin development (lines of Blaschko). LWNH typically spreads for one…

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Familial caudal dysgenesis

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Q87.8

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Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

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Q82.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 66631 Definition CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Epidemiology It has been described so far in seven affected individuals (four…

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Lower mesodermal defects sequence

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Central pain syndrome

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Central pain syndrome (CPS) is a rare neurological disorder caused by damage to or dysfunction of the pain-conducting pathways of the central nervous system (in the brain, brainstem, and spinal cord). Symptoms of CPS can vary greatly from one person to another, partly because the cause may differ. Primary symptoms are pain and loss of sensation, usually…

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Macrophagic myofasciitis

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Cerebro-oculo-facio-skeletal syndrome

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Q87.1

Cerebro-oculo-facio-skeletal (COFS) syndrome is a degenerative disorder that primarily involves the brain, eyes, and spinal cord.[1] Affected individuals have mild to severe intellectual disability, severely reduced muscle tone (hypotonia), impaired reflexes, vision impairment, and involuntary eye movements. Children with COFS syndrome have distinctive facial features, including low-set ears, small eyes, small head size (microcephaly), and a small jaw (micrognathia). They may also have…

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Malignant cylindroma

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Marginal glioneuronal heterotopia

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Ramon Syndrome

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Q87.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3019 Definition A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual…

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Megaduodenum and/or megacystis

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2604 Definition Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and…

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Cholera

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Cholera is an infection of the small intestines that is caused by the bacterium Vibrio cholera. The condition can range from mild to severe and many affected people may have no obvious signs or symptoms. Approximately 5-10% of infected people will have severe disease with watery diarrhea and vomiting leading to rapid fluid loss, dehydration,…

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Ménière’s disease

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Ménière’s disease is an abnormality of the inner ear. Signs and symptoms may include disabling vertigo or severe dizziness lasting from minutes to hours; tinnitus or a roaring sound in the ears; fluctuating hearing loss; and the sensation of pressure or pain in the affected ear. A small percentage of people have drop attacks. The…

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Choreoacanthocytosis amyotrophic

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Metaplastic carcinoma of the breast

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Metaplastic carcinoma of the breast is a rare form of breast cancer. The tumor cells differ in type from that of the typical ductal or lobular breast cancers. The cells look like skin cells or cells that make bone. Some women experience no early signs or symptoms, while others experience general symptoms of breast cancers,…

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Ring chromosome 14

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Q93.2

Ring chromosome 14 is a rare chromosome abnormality that causes ring chromosome 14 syndrome (written as r(14) syndrome), which affects many parts of the body. Signs and symptoms of r(14) syndrome vary from person to person but often include distinctive facial features, developmental delay and intellectual disability, autism spectrum disorder, intractable (hard to control) epilepsy, and…

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Milner Khallouf Gibson syndrome

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Chromosome 16p deletion

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Chromosome 16p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur…

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Mucolipidosis III alpha/beta

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Mucolipidosis III (ML III) is a rare and progressive metabolic disorder that involves our body’s ability to break down certain fats (mucolipids). Symptoms typically present around age 3 and include developmental delay, joint pain, thickened skin, heart valve abnormalities, and intellectual disabilities or learning problems. Many individuals with ML III develop low bone density (osteoporosis),…

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Ring chromosome 20

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Q93.2

Ring chromosome 20 is a chromosome abnormality that affects the development and function of the brain. People with ring chromosome 20 often have recurrent seizures or epilepsy. Other symptoms might include intellectual disability, behavioral difficulties, growth delay, short stature, a small head (microcephaly), and characteristic facial features. Ring chromosome 20 is caused by an abnormal chromosome…

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Mosaic trisomy 14

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Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth…

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Ring chromosome 4

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Q93.2

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1447 Definition Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less…

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Pediatric multiple sclerosis

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Chromosome 8q deletion

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Chromosome 8q 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 8. 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…

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Myxopapillary ependymoma

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Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain and spinal cord).[1] They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors.[2] The age of diagnosis ranges…

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Chudley-Mccullough syndrome

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Necrobiosis lipoidica

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Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to…

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Ciliary dyskinesia with excessively long cilia

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Juberg-Hayward syndrome

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Q87.0

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2319 Definition Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. Visit the Orphanet disease page for more resources.

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Not otherwise specified 3-MGA-uria type

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67048 Definition 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of…

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Oculorenocerebellar syndrome

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Neuroaxonal dystrophy renal tubular acidosis

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Onchocerciasis

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Onchocerciasis is a rare tropical parasitic disease transmitted by a black fly. Infection by the parasite can cause eye and skin problems. In humans, the parasitic worms live under the skin (subcutaneous nodules) and produce larvae (microfilariae). The larvae are found throughout the body, but especially in the skin and eyes.[1] Repeated bites by infected…

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Familial colorectal cancer

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Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered “hereditary” and is thought to be caused by an inherited predisposition to colon cancer that is passed down through a…

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Peters anomaly

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Peters anomaly is a disorder of the eye which involves thinning and clouding of the cornea and attachment of the iris to the cornea, which causes blurred vision. It may also be associated with clouding of the lens of the eye (cataracts) or other lens abnormalities.[1] The cause of Peters anomaly is unknown; it may…

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Organic mood syndrome

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Complement component receptor 1

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Pilodental dysplasia with refractive errors

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2892 Definition Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the…

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Ovarian low malignant potential tumor

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Cone-rod dystrophy 2

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Cone-rod dystrophy 2 (CORD2) is an inherited eye disorder that affects the rod and cone cells in the retina. These cells process light and allow people to see the accurate shape and color of objects.[1] Initial signs and symptoms of CORD2 usually occur in early childhood or late adolescence and include decreased sharpness of vision (visual…

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Pituitary dwarfism with large sella turcica

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Postorgasmic illness syndrome

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Postorgasmic illness syndrome (POIS) is a rare condition in which a person develops flu-like and allergy symptoms after orgasm, whether with a partner, through masturbation, or spontaneously during sleep.[1][2][3] POIS typically is reported in males (after ejaculation), but females have rarely been reported to have symptoms of POIS.[1][3] Symptoms may develop within seconds, minutes, or…

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Congenital hepatic fibrosis

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Congenital hepatic fibrosis is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices, increased pressure in the blood vessels that carry blood to the liver (portal hypertension), and scar tissue in the liver (fibrosis). Isolated congenital hepatic fibrosis is…

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Post-traumatic epilepsy

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Congenital pulmonary alveolar proteinosis

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Congenital pulmonary alveolar proteinosis is a rare form of respiratory failure that is present from birth.[1] In this condition, a substance made up of fat and protein (surfactant) builds up in the air sacs (alveoli) of the lungs, making breathing difficult.[1] Symptoms typically begin the newborn period and get worse over time.  Congenital pulmonary alveolar proteinosis…

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