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RHYNS syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 140976DefinitionRHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.EpidemiologySo far, it has been described in four males.Genetic counselingAutosomal recessive transmission is likely but an X-linked mode of inheritance cannot be…
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,…
Spinal muscular atrophy type 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83420 Definition Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the…
Spinocerebellar ataxia 17
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98759 Definition Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include…
WAGR syndrome
WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability.[1] WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary problems (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and Range of developmental…
Schinzel Giedion syndrome
Schinzel Giedion syndrome (SGS) is a rare, severe condition that is present from birth and affects many parts of the body. Features of SGS include severe intellectual disability; a distinctive facial appearance; excessive hair growth (hypertrichosis); and various birth defects that may affect the skeletal system, genitourinary system; kidneys; and heart. Affected children usually do not survive…
Noble Bass Sherman syndrome
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Spondyloepimetaphyseal dysplasia X-linked
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93349 Definition A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion…
Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones.[1][2] PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain.[3] Some people…
Sudden infant death with dysgenesis of the testes syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168593 Definition Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes. Epidemiology SIDDT syndrome has been described in 21 infants from nine separate sibships…
Mycosis fungoides
Mycosis fungoides is a disease in which Tcell lymphocytes (a type of white blood cell) become malignant (cancerous) and affect the skin. This condition is one of the most common types of T-cell lymphoma. Mycosis fungoides is characterized by a scaly, red rash that develops on the skin, particularly on areas that are not usually…
Split hand split foot malformation autosomal recessive
Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits.[1][2] The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing…
Syndactyly type 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93406 Definition Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. Epidemiology So far,…
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 ganglioglioma
Anaplastic ganglioglioma (AGG) is a very rare type of brain tumor that is a type of ganglioglioma. In general, gangliogliomas are classified as grade I or low grade tumors, meaning that they grow slowly and are considered benign. Anaplastic gangliogliomas, however, are considered grade III or high grade tumors, which means that they are usually aggressive, malignant tumors. The…
Tracheoesophageal fistula
Tracheoesophageal fistula (TEF) is a life-threatening condition in which there is an abnormal connection between the esophagus and trachea (windpipe). The esophagus and trachea run next to each other through the chest cavity. The esophagus carries food and saliva to the stomach, while the trachea carries air to the lungs. TEF can lead to severe…
Trichoodontoonychial dysplasia
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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…
Angioma hereditary neurocutaneous
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1062 Definition A disorder characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal…
Laryngeal cleft
A laryngeal cleft is a rare malformation involving the larynx (known as the voice box) and the esophagus (known as the food pipe). Normally, when the larynx develops, it is completely separate from the esophagus so that swallowed foods travel directly through the esophagus into the stomach. A laryngeal cleft occurs when these structures do not develop normally in an embryo,…
46, XY disorders of sexual development
A 46, XY disorder of sex development (DSD) is a condition in which an individual with one X chromosome and one Y chromosome in each cell, the pattern normally found in males, have genitalia that is not clearly male or female. Infants with this condition tend to have penoscrotal hypospadias, abnormal development of the testes, and…
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…
Aphalangia partial with syndactyly and duplication of metatarsal IV
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Jejunal atresia
Jejunal atresia is a birth defect in a newborn characterized by partial or complete absence of the membrane connecting the small intestines to the abdominal wall (the mesentery). It causes a portion of the small intestines (the jejunum) to twist around an artery that supplies blood to the colon (the marginal artery). This leads to an…
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 polycystic kidney disease
Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person.[1] The signs of ARPKD frequently begin before…
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…
Pulmonary arteriovenous malformation
Pulmonary arteriovenous malformation (PAVM) is a condition that affects blood flow between the heart and the lungs. Affected people have an abnormal connection between the pulmonary vein (carries blood from the lungs to the heart) and pulmonary artery (carries blood from the heart to the lungs). As a result, blood may not be properly oxygenated…
Familial joint instability syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2295 Definition A rare, genetic, dermis elastic tissue disease characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also…
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…
Feigenbaum Bergeron Richardson syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1192 Definition A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic…
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…
Hepatoerythropoietic porphyria
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…
Bare lymphocyte syndrome 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 572 Definition A rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The…
Seborrheic keratosis
Seborrheic keratosis is a benign (non cancerous) tumor found on the skin. Seborrheic keratoses are the most common benign tumor in older individuals.[1] They usually appear as multiple small, flat or raised growths that range in color from white to black and are commonly found on the face, neck, chest, shoulders, and hands.[1][2] They usually do…
Nonspherocytic hemolytic anemia due to hexokinase deficiency
Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy.[1] Approximately 20 cases of this condition have been described to date.[2] Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more…
Collecting duct carcinoma
Collecting duct carcinoma (CDC) is a rare and aggressive form of kidney cancer that begins in the collecting duct of the kidney.[1] Many people with CDC have no signs or symptoms until the cancer is at an advanced stage.[2] Symptoms may include flank pain, unexplained weight loss, or blood in the urine. Although it can…
Holoprosencephaly
Holoprosencephaly is an abnormality of brain development in which the brain doesn’t properly divide into the right and left hemispheres. The condition can also affect development of the head and face. There are 4 types of holoprosencephaly, distinguished by severity. From most to least severe, the 4 types are alobar, semi-lobar, lobar, and middle interhemispheric variant…
Benign hereditary chorea
Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and…
Congenital generalized lipodystrophy
Congenital generalized lipodystrophy is a rare disease characterized by a generalized lack of fat (adipose tissue) in the body. It is part of a group of diseases known as lipodystrophies. Signs and symptoms are noticed from birth (congenital) or early childhood and include high levels of fats (triglycerides) in the blood (hypertriglyceridemia) and insulin resistance…
N-acetylglutamate synthase deficiency
N-acetylglutamate synthase deficiency (NAGS) is type of metabolic disorder that affects the processing of proteins and removal of ammonia from the body. When proteins are processed by the body, ammonia is formed. Individuals with NAGS are not able to remove ammonia from the body and have symptoms due to toxic levels of ammonia that build up…
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency (SAHH deficiency) is a muscle disease associated with high blood levels of methionine and creatine kinase (CK). The main symptoms are psychomotor delay, behavioral disorders, severe myopathy, and delayed myelination from birth. Myelin is the layer covering the axons of nerves and plays an important role in nerve impulse conduction. SAHH deficiency is caused by…
Van den Ende Gupta syndrome
Van den Ende Gupta syndrome is present at birth and affects the facial features and skeletal system. Symptoms of Van den Ende Gupta syndrome include underdeveloped eyelids and jaw bones; long and bent fingers; cleft palate; and other bone abnormalities. Intelligence is average. Very little is known about how this condition changes over time. Van…
Immunotactoid glomerulopathy
Immunotactoid glomerulopathy, also known as glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GOMMID), is a very uncommon cause of glomerular disease. It is related to a similar disease known as fibrillary glomerulopathy, which is more common. Both disorders probably result from deposits derived from immunoglobulins, but in most cases the cause is idiopathic (unknown). On electron…
Brachydactyly long thumb type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2946 Definition Brachydactyly long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder…
MEHMO syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85282 Definition MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died…
Secretory breast carcinoma
Secretory breast carcinoma (SBC) is a very rare, slow-growing type of breast cancer. It was originally referred to as “juvenile breast carcinoma” because it was first recognized in children and adolescents.[1][2] However, many cases reported in the last several decades have occurred in adults of all ages.[1][3] SBC may occur in males or females but like…
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an inherited disorder in which damage to the small blood vessels in the brain leads to stroke and other impairments.[1][2][3] Individuals with CARASIL usually develop symptoms between 20 and 30 years of age.[3] Symptoms may include: muscle stiffness, personality changes, and memory loss. People…
RFT1-CDG (CDG-In)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 244310 Definition RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a…
Shprintzen omphalocele syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3164 Definition Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities….
LEOPARD syndrome
LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the features of the syndrome:(L)entigines dark spots on the skin(E)lectrocardiographic conduction defects abnormalities of the electrical activity of the heart (O)cular hypertelorism widely spaced eyes(P)ulmonary stenosis – obstruction of the normal outflow of blood from the right ventricle of the heart…
Lemierre syndrome
Lemierre syndrome is a rare and potentially life-threatening complication of bacterial infections that usually affects previously-healthy adolescents and young adults. It most commonly develops in association with a bacterial throat infection, but it may develop in association with an infection involving the ears, salivary glands (parotitis), sinuses, or teeth; or in association with an Epstein-Barr…
Cartilage-hair hypoplasia
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. Signs and symptoms may vary among affected individuals. People with this condition are also at an increased risk of developing cancer,…
Listeria infection
A listeria infection or listeriosis is an infection caused by a bacteria known as Listeria monocytogenes. It mainly affects newborn infants, elderly patients, pregnant women and patients who have low immunity.[1] Listeria can be spread by several methods. A common cause is ingestion (food-borne transmission) of unpasteurized milk or contaminated vegetables. It can also be transmitted from…
Celiac disease
Celiac disease is an autoimmune disorder that damages the small intestine and inhibits absorption of nutrients. People with celiac disease cannot tolerate gluten, a protein in wheat, rye, barley, and in some products such as medicines, vitamins, and lip balms. When affected people eat food with gluten, or use a product with gluten, the immune…
Lymphocytic vasculitis
Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease…
COACH syndrome
COACH syndrome is a condition that mainly affects the brain and liver. Most individuals with COACH syndrome have intellectual disability, liver problems (fibrosis), and difficulty with movement (ataxia). Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus).[1] This condition is inherited in an autosomal recessive manner; 70%…
Madokoro Ohdo Sonoda syndrome
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Rare Infectious Disease News