Rare Immunology News

Deafness goiter stippled epiphyses

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Abetalipoproteinemia

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E78.6

Abetalipoproteinemia is a very rare condition that affects fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition. Early symptoms of this condition include diarrhea, vomiting, and poor growth. Without treatment, later complications may include muscle weakness, poor night and color vision, tremors, and speech difficulties.[1][2] The long-term outcome can…

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HMG CoA lyase deficiency

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E71.1

HMG CoA lyase deficiency is an inherited disorder in which the body cannot process a protein called leucine or make ketones. Ketones are used for energy during periods of fasting. The signs and symptoms of condition usually appear within the first year of life and include episodes of vomiting, diarrhea, dehydration, extreme tiredness (lethargy), and weak muscle tone…

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Alpha-thalassemia-abnormal morphogenesis

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Episodic ataxia with nystagmus

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G11.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97 Definition Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia….

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Developmental dysphasia familial

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F80.1

Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. The symptoms cannot be attributed to sensorimotor, intellectual deficits, autism spectrum, or other developmental impairments. Likewise it does not occur as the consequence of an evident brain lesion or as a result of the child’s social environment. Familial cases of developmental dyphasia have been…

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Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

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D84.8

Adult-onset immunodeficiency with antiinterferon-gamma autoantibodies is an immunodeficiency disorder. It is associated with susceptibility to disseminated infections (dispersed throughout the body) caused by organisms that typically affect only people with weak immune systems (opportunistic pathogens).[1] People with this disorder produce higher amounts of anti-interferon-gamma autoantibodies. These are specific immune system proteins that mistakenly target a person’s…

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Split spinal cord malformation

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Q06.2

Split spinal cord malformation (SSCM) is a rare form of spinal dysraphism in which a person is born with splitting, or duplication, of the spinal cord. It may be characterized by complete or incomplete division of the spinal cord, resulting in two ‘hemicords.’ There are two types of SSCM. In type I, each hemicord has…

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Gianotti Crosti syndrome

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Gianotti Crosti syndrome (GCS) is a rare childhood skin condition characterized by a papular rash with blisters on the skin of the legs, buttocks, and arms. It typically affects children between 9 months and 9 years of age. Skin lesions typically last at least 10 days and often last for several weeks. The lesions are…

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Dihydrolipoamide dehydrogenase deficiency

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E74.4

Dihydrolipoamide dehydrogenase (DLD) deficiency is a very rare condition that can vary in age of onset, symptoms and severity. The condition may be characterized by early-onset lactic acidosis and delayed development (most commonly); later-onset neurological dysfunction; or adult-onset isolated liver disease. Signs and symptoms may include lactic acidosis shortly after birth; hypotonia and lethargy in…

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Acrospiroma

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Porokeratosis, disseminated superficial actinic 2

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Acute lymphoblastic leukemia congenital sporadic aniridia

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Epilepsy with myoclonic-atonic seizures

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G40.4

Epilepsy with myoclonic-atonic seizures is a rare epilepsy syndrome of early childhood. It is characterized by seizures of many different types, most often myoclonicatonic, astatic, or generalized tonic-clonic seizures. Seizures can be followed by drop attacks, which can lead to falls and injuries. Absence seizures may occur. People with the condition may experience several seizures…

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Adactylia unilateral

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Q71.3

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 973 Definition Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic…

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Dyschromatosis symmetrica hereditaria 1

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L81.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 41 Definition A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs. Clinical description The first manifestations of the disease generally appear during early childhood. Etiology…

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Adenosine monophosphate deaminase 1 deficiency

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G71.3

Adenosine monophosphate deaminase 1 (AMPD1) deficiency is an inherited condition that can affect the muscles used for movement (skeletal muscles). Many people with AMPD1 deficiency do not have symptoms. People who do have symptoms typically have muscle pain (myalgia), cramping, and weakness after exercise, and often get tired faster than others. Some affected people appear to…

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Kenny-Caffey syndrome type 2

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Q87.1

Kenny-Caffey syndrome type 2 is a genetic disorder that affects the skeleton, head, and eyes. It causes frequent episodes of low blood calcium (hypocalcemia). This syndrome is caused by changes (pathogenic variants) in the FAM111A gene and is inherited in an autosomal dominant pattern. Treatment often includes calcium and vitamin D supplements and addressing any medical issues as…

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MEPAN syndrome

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SeSAME syndrome

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SeSAME syndrome is characterized by Seizures, Sensorineural deafness, Ataxia (lack of muscle coordination), intellectual (Mental) disability, and Electrolyte imbalance (low levels of potassium and magnesium in the blood, hypokalemia and hypomagnesemia, and metabolic alkalosis). It may also be known as EAST syndrome (Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy (kidney problems in the structures known as tubules)).[1] Seizures tend…

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Aglossia and Situs Inversus

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Trueb Burg Bottani syndrome

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Ainhum

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Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not…

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Eosinophilic gastroenteritis

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Eosinophilic gastroenteritis occurs when certain white blood cells known as eosinophils get into the digestive tract and cause damage. Symptoms of eosinophilic gastroenteritis usually start in adulthood and may include stomach pain, nausea, vomiting, and the inability to absorb nutrients from food. Sometimes, a blockage in the intestines occurs. In most people, symptoms occur from time…

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Microcephaly-albinism-digital anomalies 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: 2513 Definition Microcephaly albinism digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe….

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Pontocerebellar hypoplasia type 4

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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: 166063 Definition Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an…

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Allergic angiitis

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Eosinophil peroxidase deficiency

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Kanzaki disease

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79280 Definition A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy. Epidemiology Prevalence of this disorder is not known but less than 20 cases…

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Nipah virus encephalitis

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Amebiasis

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Tremor hereditary essential, 1

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Familial transthyretin amyloidosis

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Familial transthyretin amyloidosis (FTA) is a rare inherited condition characterized by abnormal build-up of a protein called amyloid in the body’s organs and tissues.[1][2] Symptoms start in adulthood and get worse over time. Signs and symptoms depend on where the amyloid protein is building up.[1] Amyloid build-up in the nerves of the peripheral nervous system…

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Seaver Cassidy 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: 1778 Definition Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with…

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Partial androgen insensitivity syndrome

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Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development that affects the growing reproductive and genital organs of a fetus.[1][2] Androgen insensitivity refers to the inability of the body of an individual with a 46, XY karyotype (usually leading to normal male development) to properly respond to male sex hormones (androgens).[2] In PAIS,…

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Familial congenital palsy of trochlear nerve

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H49.1

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 91498 Definition Familial congenital palsy of trochlear nerve is a rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive…

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Klippel-Trenaunay syndrome

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Klippel-Trenaunay syndrome (KTS) is a syndrome that affects the development of blood vessels, soft tissues, and bones. This syndrome has three characteristic features: a red birthmark called a port-wine stain, overgrowth of soft tissues and bones, and vein malformations such as varicose veins or malformations of deep veins in the limbs. The overgrowth of bones and soft…

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Nephrotic syndrome ocular anomalies

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Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges

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Q84.6

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1487 Definition Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may…

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Familial porencephaly

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Goodpasture syndrome

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Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term “Goodpasture syndrome” for the findings of glomerulonephritis and pulmonary hemorrhage and the term “Goodpasture disease” for those patients with glomerulonephritis, pulmonary…

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Primary intestinal lymphangiectasia

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Primary intestinal lymphangiectasia is a digestive disorder in which the lymph vessels supplying the lining of the small intestine are enlarged. The cause of the condition is still unknown. The signs and symptoms include swelling of the legs and abdominal discomfort, loss of lymphatic fluid into the gastrointestinal tract, protein-losing enteropathy, too little albumin in the blood,…

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Spastic paraplegia 51

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Periventricular heterotopia

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Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during early development of the fetal brain. People with this condition typically develop recurrent seizures (epilepsy) beginning in mid-adolescence.[1] Intelligence is usually normal, but some people may have mild intellectual disability, including difficulty with reading or spelling. Less common features…

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Autoimmune polyglandular syndrome type 2

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Autoimmune polyglandular syndrome type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands.[1] It is characterized by the presence of Addison’s disease along with autoimmune thyroid disease and/or type 1 diabetes.[1] Affected individuals may also have problems with other endocrine glands and other common features include primary hypogonadism, myasthenia gravis, and celiac disease. Autoimmune polyglandular syndrome…

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Immunotactoid or fibrillary glomerulopathy

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N03.6

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…

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Pseudohypoparathyroidism type 2

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 94090 Definition Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright’s hereditary…

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Ichthyosis with hypotrichosis, autosomal recessive

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Fitzsimmons Walson Mellor 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: 2820 Definition Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions…

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Freeman-Sheldon syndrome

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Q87.0

Freeman-Sheldon syndrome (FSS) affects the development of the bones, joints, head, and face. Symptoms of FSS are present from birth, and include abnormally flexed joints (joint contractures), spine abnormalities, and a characteristic facial appearance. People with FSS have a small mouth (microstomia) with pursed lips, giving the appearance of a “whistling face”. In addition, they may…

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Polydactyly postaxial dental and vertebral

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Autism spectrum disorder

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Autism spectrum disorder (ASD) is a condition that affects the development of social and communication skills. It includes features of four conditions which were once thought to be separate syndromes autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder. Signs and symptoms often become apparent in the first 2-3 years of life and…

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Fuqua Berkovitz syndrome

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Spinocerebellar ataxia X-linked type 3

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G11.1

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85297 Definition X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading…

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GAPO 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: 2067 Definition A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations. Epidemiology Approximately 38 patients have been reported in literature since the first description in 1947….

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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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Pulmonary valves agenesis

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Krieble Bixler syndrome

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Tourette syndrome

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Tourette syndrome is a complex neurological disorder that is characterized by repetitive, sudden, uncontrolled (involuntary) movements and sounds (vocalizations) called tics.[1][2] Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885.[2] A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. A small…

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Recurrent peripheral facial palsy

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Autosomal dominant non-syndromic intellectual disability

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Glossopharyngeal neuralgia

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Glossopharyngeal neuralgia is a disorder that is associated with repeated episodes of severe pain in the tongue, throat, ear, and tonsils. These areas are all connected to the ninth cranial nerve, also called the glossopharyngeal nerve. Episodes of pain may last from a few seconds to a few minutes and usually occur on one side…

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Rheumatoid nodulosis

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Bustos Simosa Pinto Cisternas syndrome

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Hypospadias-intellectual disability, Goldblatt type 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: 2261 Definition Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly,…

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Sudden Arrhythmia Death Syndrome

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Spastic paraplegia 5A

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G11.4

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100986 Definition Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes…

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Groll Hirschowitz 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: 3217 Definition A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations…

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Spinocerebellar ataxia 31

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217012 Definition An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and…

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Babesiosis

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Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can…

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Hepatoerythropoietic porphyria

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E80.2

Hepatoerythropoietic porphyria (HEP) affects the skin and is due to a build-up of damaging chemicals in the body. Symptoms usually begin in infancy and include extreme sun sensitivity, extra body hair, discolored teeth, and anemia. Over time, people with HEP may lose skin, bone or develop scarring in sun-exposed areas. HEP is caused by a…

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Spondyloepiphyseal dysplasia congenita

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Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. Features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the…

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Neuropathy, distal hereditary motor, Jerash 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: 139552 Definition A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and…

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Hyperinsulinemic hypoglycemia familial 2

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Spondylometaepiphyseal dysplasia short limb-hand 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: 93358 Definition Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed…

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Brachydactyly type C

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Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the…

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Hypomyelination and congenital cataract

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Hypomyelination and congenital cataract is a very rare disease characterized by cloudy coverings of the eye that are present at birth (congenital cataracts) and neurologic impairment that becomes apparent after the first year of life. The neurologic impairment is progressive and presents as ataxia and spasticity. Affected individuals may lose the ability to walk. Signs…

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Spirurida Infections

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Tièche-Jadassohn nevus

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Human spumaretrovirus infection

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Subependymal nodular heterotopia

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Hydroxyprolinemia

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Hydroxyprolinemia is an inherited metabolic condition characterized by elevated levels of the amino acid hydroxyproline in the blood and urine. This condition usually does not cause physical or cognitive abnormalities. Hydroxyprolinemia was initially described in association with intellectual disabilities; however it has also been reported in cognitively normal individuals and is thus thought to be begnin. Hydroxyprolinemia…

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Taurodontism, microdontia, and dens invaginatus

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D-bifunctional protein deficiency

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D-bifunctional protein deficiency (DBP deficiency) is a genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition never gain…

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Hyperprolinemia

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Hyperprolinemia is when there is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms: hyperprolinemia type 1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although…

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Thyrotoxic periodic paralysis

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G72.3

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79102 Definition Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. Epidemiology It is most common in Asian males (with male-to-female ratios ranging…

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Billet Bear syndrome

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Hypopharyngeal cancer

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Trisomy 11 mosaicism

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Blepharonasofacial malformation 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: 1252 Definition Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Epidemiology Blepharonasofacial syndrome has been reported in 3…

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Ichthyosis-intellectual disability-dwarfism-renal impairment

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2278 Definition Ichthyosisintellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. Visit the…

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VACTERL association

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VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal…

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Bronchiolitis obliterans organizing pneumonia

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J44.8

Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli).[1] BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry…

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Thrombotic thrombocytopenic purpura, acquired

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Thrombotic thrombocytopenic purpura (TTP), acquired is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they…

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Weaver Williams syndrome

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Brachydactyly absence of distal phalanges

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Infantile axonal neuropathy

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