Rare Endocrinology News
Arachnodactyly intellectual disability dysmorphism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1130 Definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe…
Fitzsimmons syndrome
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Arterial calcification of infancy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 51608 Definition A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive…
O Donnell Pappas syndrome
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Autoimmune encephalitis
Autoimmune encephalitis refers to a group of conditions that occur when the body’s immune system mistakenly attacks healthy brain cells, leading to inflammation of the brain. People with autoimmune encephalitis may have various neurologic and/or psychiatric symptoms. Neurologic symptoms may include impaired memory and cognition, abnormal movements, seizures, and/or problems with balance, speech, or vision.[1][2]…
Twenty-nail dystrophy
Twenty-nail dystrophy is a condition that affects the nails of the fingers and toes. The nails become rough, thin, and brittle. They appear similar to sandpaper. It was once thought that all 20 nails will be affected, but any number of nails can become rough and brittle. This condition most commonly occurs in childhood, but it…
Glossopharyngeal neuralgia
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…
Osteopetrosis autosomal recessive 3
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,…
Griscelli syndrome type 2
Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications.[1] GS2 is…
Babesiosis
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…
Hemochromatosis
Hemochromatosis is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. Early symptoms of hemochromatosis…
Hereditary lymphedema type II
Hereditary lymphedema type II is a primary lymphedema that results from abnormal transport of lymph fluid. Individuals with this condition usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the lymphatic vessels (the thin tubes that carry lymph fluid). While the cause…
Bartter syndrome type 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 89938 Definition Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels…
B-cell lymphoma
Bcell lymphoma refers to types of non-Hodgkin lymphoma that are characterized by abnormalities of the “B-cells” (a type of white blood cell that makes antibodies to help fight infection). The condition may grow and spread slowly with few symptoms (also known as indolent lymphoma) or may be very aggressive with severe symptoms. When present, signs and symptoms may…
Maternal hyperphenylalaninemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2209 Definition A rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of…
Slti Salem syndrome
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Bizarre parosteal osteochondromatous proliferation
Bizarre Parosteal Osteochondromatous Proliferation (BPOP), also known as Nora’s lesion, is an uncommon, benign bone tumor that grows on the surface of the bone. In some cases, BPOP does not cause symptoms. However, at other times, it can be painful and lead to bone deformity.[1][2] It is more commonly located on the hands and feet,…
Hyperferritinemia cataract syndrome
Hyperferritinemia cataract syndrome is a rare condition that is characterized by elevated levels of ferritin (an iron-storing protein) in the blood and early onset cataracts. Without treatment, these cataracts often become progressively worse leading to dimming and blurriness of vision. The severity of the condition can vary significantly from person to person, even among members…
Infantile spasms broad thumbs
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3173 Definition Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or…
Pachygyria
Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system.[1] With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as “incomplete lissencephaly.”[2][3] Pachygyria may occur alone (isolated) or…
Systemic candidiasis
Systemic candidiasis includes a spectrum of yeast infections caused by different species (types) of Candida.[1] It is a serious infection that can affect the blood, heart, brain, eyes, bones, or other parts of the body.[2] Although there are over 200 species of Candida, five different species of Candida cause 90% of systemic candidiasis.[1][2][3] The most common form of…
Wells syndrome
Wells syndrome is a rare eosinophilic disorder that primarily affects the skin. Affected people typically develop a skin rash that is often preceded by itching or burning skin. The rash consists of raised, red, swollen areas that may be warm to the touch. The symptoms generally come on rapidly and may last four to eight weeks. In some…
Spinocerebellar ataxia autosomal recessive 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83472 Definition A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from…
Camurati Engelmann disease, type 2
Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk,…
DPM2-CDG
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 329178 Definition Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable…
Renal nutcracker syndrome
Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. Signs and symptoms can vary from person to person. Some people may not have symptoms, while others develop severe and persistent symptoms. Symptoms may include blood in the urine…
Primary carnitine deficiency
Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia.[1] Some individuals…
Leukoencephalopathy palmoplantar keratoderma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2386 Definition Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. Visit the Orphanet…
Cataract-glaucoma
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Limbic encephalitis with LGI1 antibodies
Limbic encephalitis with LGI1 antibodies is a relatively new disease characterized by progressive memory loss, confusion, sleep disturbances, and problems with behaviors and spatial orientation. Seizures are common and frequently precede other symptoms. About half of people with this diagnosis exhibit a specific type of seizure called faciobrachial dystonic seizures, which resemble brief jerks of…
Cerebral cavernous malformation
Cerebral cavernous malformations (CCMs) are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure which lead to altered blood flow. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the central nervous system (the brain and spinal cord). Cavernous…
Central serous chorioretinopathy
Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from the choroid (the blood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs…
Cerebellar hypoplasia
Cerebellar hypoplasia is a neurological condition in which the cerebellum is not completely developed or is smaller than it should be. It may occur with a variety of congenital syndromes, metabolic disorders and neurodegenerative disorders; therefore signs and symptoms may depend upon the associated condition an affected individual has.[1] The most common findings are developmental and…
Mycobacterium Malmoense
Mycobacterium malmoense (M. malmoense) is a bacterium naturally found in the environment, such as in wet soil, house dust, water, dairy products, domestic and wild animals, food, and human waste.[1][2] M. malmoense infections most often occur in adults with lung disease, and manifests as a lung infection.[3][4] Skin and tissue infections with M. malmoense have also been described.[1] In young children, M….
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 363649 Definition Mandibular hypoplasia-deafness-progeroid syndrome is a rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which…
Chediak-Higashi syndrome
Chediak-Higashi syndrome is a genetic syndrome that affects the immune system, as well as other parts of the body. Signs and symptoms include a weakened immune system, repeated and persistent infections beginning in infancy and childhood, oculocutaneous albinism, blood clotting problems, and nervous system abnormalities (e.g., weakness, difficulty walking, and seizures). Complications from this syndrome can…
Mastocytic enterocolitis
Mastocytic enterocolitis is a term describing the condition of chronic, intractable diarrhea in people with normal colon or duodenum biopsy results, but with an increased number of mast cells in the mucosa (the innermost layer of the colon).[1] The increase in mast cells is not associated with systemic mastocytosis or cutaneous mastocytosis.[2] The infiltration of…
Median cleft of upper lip with polyps of facial skin and nasal mucosa
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1993 Definition A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with…
Schneckenbecken dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3144 Definition Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia. Epidemiology Less than 20 cases have been reported in the literature so far. Clinical description The typical radiographic finding is…
Chromosome 17q deletion
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1597 Definition A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial…
Misophonia
Misophonia, translated to “hatred of sound,” is a chronic condition that causes intense emotional reactions to specific sounds. The most common triggers include those provoked by the mouth (chewing gum or food, popping lips), the nose (breathing, sniffing, and blowing) or the fingers (typing, clicking pen, drumming on the table). Reactions to the specific sound…
Chromosome 1p deletion
Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. 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…
Chromosome 9q duplication
Chromosome 9q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 9. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people…
Myocarditis
Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused…
Nephronophthisis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 655 Definition A chronic tubulointerstitial nephropathy that progresses to end-stage renal failure. Epidemiology Prevalence is 1/100 000 individuals. Clinical description The disease is both clinically and genetically heterogeneous. Three main clinical forms have been described….
Classical-like Ehlers-Danlos syndrome
Classical-like Ehlers-Danlos syndrome (EDS due to tenascin-X (TNX) deficiency) is a form of Ehlers Danlos Syndrome (EDS) characterized by an unusually large range of joint movement (hypermobility), skin that is soft, stretchy, and fragile and easy bruising. Other signs and symptoms might include: muscle weakness and wasting (atrophy), and protrusion of part of the stomach…
Hereditary motor and sensory neuropathy type 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 64751 Definition Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty…
Pontocerebellar hypoplasia type 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166068 Definition Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and…
Phosphoglycerate kinase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 713 Definition A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. Epidemiology Phosphoglycerate kinase (PGK) deficiency prevalence is unknown but about 30 unrelated…
Uveal coloboma-cleft lip and palate-intellectual disability
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Retinal cone dystrophy 3B
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Dysfibrinogenemia
Dysfibrinogenemia is a coagulation (clotting) disorder characterized by having an abnormal form of fibrinogen.[1] Fibrinogen is a protein produced by the liver which helps control bleeding by helping blood clots to form.[2] Having abnormal fibrinogen results in defective clot formation and can cause an increased or decreased ability to clot. Dysfibrinogenemias may be inherited (congenital)…
Preauricular sinus
Preauricular sinus is a common birth defect that may be seen during a routine exam of a newborn. It generally appears as a tiny skin-lined hole or pit, often just in front of the upper ear where the cartilage of the ear rim meets the face. It may occur on one side (unilateral) or both sides…
Pustular psoriasis
Pustular psoriasis is a rare form of psoriasis that is characterized by widespread pustules and reddish skin. This condition can occur alone or with plaque-type psoriasis. Most cases of pustular psoriasis are thought to be “multifactorial” or associated with the effects of multiple genes in combination with lifestyle and environmental factors. There are several triggers…
Megaloblastic anemia due to dihydrofolate reductase deficiency
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Susac syndrome
Susac syndrome is an autoimmune condition that affects the very small blood vessels in the brain, retina, and inner ear (cochlea). The condition is characterized by three main symptoms: brain disease (encephalopathy), hearing loss, and vision loss. Some people may not have all signs of Susac syndrome, but instead develop only specific combinations of the…
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