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Klinefelter syndrome
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone production), small and/or undescendent…
MAN1B1-CDG
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 397941 Definition MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set…
Cardiomyopathy dilated with woolly hair and keratoderma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 65282 Definition A syndrome that is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Epidemiology Only a few cases have been reported, all involving patients from Ecuador, India or…
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 10 (CLN10 disease) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Signs and symptoms of CLN10 usually appear soon after birth. They may include muscle stiffness, respiratory failure, and seizures that last several minutes (status epilepticus). Infants with CLN10 disease have a small brain and…
Lissencephaly 2
Lissencephaly 2 is an inherited condition characterized by classical lissencephaly in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism). Additional symptoms and findings typically include severe…
Long QT syndrome
Long QT syndrome is a disorder of the heart’s electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. Long QT syndrome can be detected by electrocardiogram (EKG). It can be caused by a variety of different gene mutations (changes). It can also be acquired (noninherited) and may be brought on by…
Steroid dehydrogenase deficiency dental anomalies
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Cerebellar hypoplasia with endosteal sclerosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85186 Definition Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four…
Paget disease of the breast
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 180275 Definition Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and…
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the…
McDonough syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2471 Definition McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital…
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 293955 Definition Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria,…
Metachondromatosis
Metachondromatosis (MC) is a rare bone disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. The first signs occur during the first decade of life. Osteochondromas most commonly occur in the hands and feet (predominantly in digits and toes), and enchondromas involve the iliac crests and metaphyses of long bones. The lesions…
Chromosome 10q deletion
Chromosome 10q 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 10. 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 13q duplication
Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra (duplicated) copy of genetic material on the long arm (q) of chromosome 13. 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…
Moebius axonal neuropathy hypogonadism
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Myxoid liposarcoma
Myxoid liposarcoma is a subtype of liposarcoma, tumors that arise in the body’s fat tissue. Other categories of liposarcoma include well-differentiated; dedifferentiated; round cell; and pleomorphic.[1] Round cell and myxoid liposarcomas are sometimes grouped together into one category known as myxoid/round cell liposarcoma (MRCLS).[2] In adults, liposarcomas are the most common type of soft tissue…
Chromosome 5p deletion
Chromosome 5p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 5. 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…
Postural orthostatic tachycardia syndrome
Postural orthostatic tachycardia syndrome (POTS) is a condition characterized by too little blood returning to the heart when moving from a lying down to a standing up position (orthostatic intolerance). Orthostatic Intolerance causes lightheadedness or fainting that can be eased by lying back down. In people with POTS, these symptoms are also accompanied by a…
Neuroacanthocytosis
Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.[1] The onset, severity and specific physical findings vary depending upon the specific type of NA present.[1] Signs and symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive…
Cold-induced sweating syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 157820 Definition Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature. Epidemiology So far, six cases have been reported of Norwegian, Israeli and…
Talipes equinovarus
Talipes equinovarus is a congenital (present from birth) condition where the foot turns inward and downward. The cause of this condition is not known, although it may be passed down through families in some cases. This condition occurs in about 1 out of every 1,000 births. Treatment may involve moving the foot into the correct…
Oligomeganephronic renal hypoplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2260 Definition Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia (see this term), characterized by a reduction of 80% in nephron number and a marked hypertrophy of…
Cogan-Reese syndrome
Cogan-Reese syndrome is one type of Iridocorneal Endothelial (ICE) syndrome. The ICE syndromes predominantly affect Caucasian, young to middle-aged women, and involve one eye. While there have been some cases of Cogan-Reese syndrome reported in children, the disease is typically observed in females in the mid-adult years. [1] In one study of 71 patients with ICE…
Rhizomelic dysplasia Patterson Lowry type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2831 Definition Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of…
Colpocephaly
Colpocephaly is a congenital brain abnormality in which the occipital horns the posterior or rear portion of the lateral ventricles (cavities) of the brain are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.[1]
Pfeiffer Palm Teller syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2871 Definition Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures…
Otoonychoperoneal syndrome
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Condensing osteitis of the clavicle
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Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections
Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections (PANDAS) is a neurological and psychiatric condition in which symptoms are brought on or worsened by a Streptococcal (strep) infection. PANDAS is a subtype of pediatric acute-onset neuropsychiatric syndrome (PANS). Signs and symptoms of PANDAS align with current guidelines for diagnosing PANDAS, and include:[1] The presence of obsessive-compulsive disorder (OCD) and/or tics (uncontrolled,…
Rothmund-Thomson syndrome
Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin, eyes, bones, and teeth. Signs and symptoms can include a characteristic facial rash (poikiloderma); sparse hair, eyelashes, and/or eyebrows; short stature; skeletal (bone) and dental abnormalities; cataracts; premature aging; and an increased risk for cancer, especially osteosarcoma.[1][2] Gastrointestinal problems…
1q duplications
Chromosome 1q duplications are chromosome abnormalies that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 1. 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 may occur in people with chromosome…
Multiple congenital anomalies-hypotonia-seizures syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280633 Definition A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent…
Congenital microcoria
Congenital microcoria is a rare eye disorder affecting the development of the irises. It is characterized by absence or incomplete development of the iris dilator muscles (also called the pupil dilator muscles), making the pupils unable to dilate (widen).[1] People with congenital microcoria have small pupils (with a diameter less than 2 millimeters) that dilate…
Pseudoprogeria syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2985 Definition Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers. Visit…
Fibrillary glomerulonephritis
Fibrillary glomerulonephritis is an uncommon cause of glomerular disease. A more rare disorder known as immunotactoid glomerulpathy is a very similar condition. Both disorders probably result from deposits derived from immunoglobulins but in most cases the cause is idiopathic (unknown). The diagnosis is made with a kidney biopsy and by electron microscopy. Fibrillary glomerulonephritis and immunotactoid glomerulopathy can be differentiated…
Subcorneal pustular dermatosis
Subcorneal pustular dermatosis (SPD) is a rare skin disease in which pus-filled pimples or blisters (pustules) form under the top (subcorneal) layer of the skin.[1][2][3][4][5] It is most common in middle-aged adults (particularly women) but can develop in children.[2][5] Pustules usually appear over a few hours and grow together to form round or wavy patterns.[2][3]…
Renal dysplasia-limb defects syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3404 Definition Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants…
Hunter-McAlpine syndrome
Hunter-McAlpine syndrome is a very rare condition characterized by developmental delay, intellectual disability, and small head size (microcephaly). Sometimes the microcephaly results from early closure of the bones in the skull, which is called craniosynostosis. This can cause a misshapen skull and is common in individuals with Hunter-McAlpine syndrome; in fact another name for the…
Hamanishi Ueba Tsuji syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2926 Definition Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs….
Say Meyer syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3369 Definition Trigonocephalyshort staturedevelopmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other…
Hypothalamic hamartomas
Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas.[1] Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking)…
Severe combined immunodeficiency
Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. Due to recurrent…
Kyphoscoliotic Ehlers-Danlos syndrome
Kyphoscoliotic Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera.[1][2] kyphoscoliosis EDS is caused by changes (mutations) in…
Spondyloepiphyseal dysplasia tarda X-linked
X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches.[1][2] Other skeletal…
Fetal cystic hygroma
Fetal cystic hygroma is a congenital malformation of the lymphatic system. The lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are single or multiple cysts found mostly in the neck region. In the fetus, a cystic hygroma can progress…
Heavy metal poisoning
Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body.[1] Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium.[1] Exposure may occur through the diet, from medications, from the environment, or in the course of work or play.[2] Heavy metals…
Spondyloepimetaphyseal dysplasia Strudwick type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93346 Definition Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot,…
Hemi 3 syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2128 Definition Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this…
Nathalie syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2663 Definition A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well…
Tibia absent polydactyly arachnoid cyst
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3328 Definition Tibia absent polydactyly arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. Epidemiology It has been described in 3 sibs (two males and one…
Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia (SED) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. Other features include problems with vision and hearing, clubfeet, cleft palate, arthritis, and difficulty with breathing as curvature of the spine progresses. There are two main types of SED, spondyloepiphyseal dysplasia congenita (which is present from…
Deafness-lymphedema-leukemia syndrome
Deafness-lymphedema-leukemia syndrome is a very rare genetic disorder characterized by swelling (lymphedema), a weak immune system (immunodeficiency), and blood disorders. Signs and symptoms may include congenital deafness, swelling of the legs and genitalia, a type of cancer known as acute myeloblastic leukemia, reduction of the blood cells (pancitopenia), scarring of the liver (cirrhosis), heart problems…
Synovial sarcoma
Synovial sarcoma is a rare and aggressive soft tissue sarcoma. In the early stages of the condition, it may cause no noticeable signs or symptoms. However, as the tumor grows larger, affected people may notice a lump or swelling. In some cases, the tumor can limit range of motion or cause numbness and/or pain if…
Acrofacial dysostosis Catania type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1786 Definition A very rare acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow’s peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild preand postaxial limb hypoplasia with brachydactyly, mild interdigital…
Teratoma with malignant transformation
A teratoma with malignant transformation (TMT) is a tumor that develops from germ cells when they grow and divide abnormally, forming a mass. Approximately 6% of teratomas develop into TMTs by a process called malignant transformation, when some of the cells in the teratoma become cancerous. TMTs can occur anywhere in the body, but most are located in the testes…
Dextrocardia with situs inversus
Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the…
Tranebjaerg Svejgaard syndrome
Tranebjaerg Svejgaard syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. It has been reported in four male cousins. The underlying genetic cause of the condition is currently unknown; however, it is thought to be inherited in an X-linked manner. Treatment is based on the signs and symptoms present in…
Diaphragmatic flutter
Diaphragmatic flutter is a disease in which there are repeated involuntary contractions of the diaphragm, the muscle that separates the heart and lungs from the abdomen. The abnormal flutter of the diaphragm affects the way the lungs can expand and contract during breathing.[1] Symptoms of diaphragmatic flutter may include difficulty breathing, abdominal pain, heart palpitations,…
Naguib-Richieri-Costa syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2211 Definition Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Epidemiology It has been described in three families. Clinical description Craniofacial manifestations include wide anterior fontanel, flat occiput, hypertelorism,…
Acute respiratory distress syndrome
Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that prevents enough oxygen from getting to the lungs and into the blood. [1] People who develop ARDS often are very ill with another disease or have major injuries.[2] The condition leads to a buildup of fluid in the air sacs which prevents enough oxygen from passing into the bloodstream….
48,XXYY syndrome
48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 48,XXYY can be considered a variant of Klinefelter syndrome. Individuals with 48,XXYY are usually considerably tall with small testes that do not function normally leading to infertility. In addition, affected individuals have behavioral problems such as…
Double uterus-hemivagina-renal agenesis
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