Wissler's syndrome Other names Wissler's disease or Wissler-Fanconi syndrome Specialty Immunology , rheumatology Wissler's syndrome is a rheumatic disease that has a similar presentation to sepsis .
The most classical complication is macrophage activation syndrome but blood coagulation disorders, fulminant hepatitis, cardiac and pulmonary complications may occur.
Clinical Features Stern et al. (1984) described a kindred in which 7 persons in 3 generations had a seemingly undescribed syndrome that combined unique corneal changes with diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, premature birth and dental problems. ... Lesions of the palms and soles and of the cornea occur in type II tyrosinemia (Richner-Hanhart syndrome; 276600), an autosomal recessive, and in the syndromes of uncertain classification, probably autosomal dominant and autosomal recessive, respectively, reported by Zmegac and Sarajlic (1964) and Callan (1970).
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkertosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay.
Hirschsprung's disease is associated with certain inherited conditions, such as Down syndrome and other abnormalities present at birth, such as congenital heart disease.
A number sign (#) is used with this entry because of evidence that susceptibility to Hirschsprung disease (HSCR4) is associated with variation in the EDN3 gene (131242) on chromosome 20q13. Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
A number sign (#) is used with this entry because of evidence that susceptibility to Hirschsprung disease-3 (HSCR3) is associated with variation in the GDNF gene (600837) on chromosome 5p13. Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
Hultgren (1982) described ileocolonic aganglionosis in the horse. The lethal white foal syndrome (LWFS) is a congenital abnormality of overo spotted horses which appears to be a model for human aganglionic megacolon. ... Metallinos et al. (1998) also showed that an ile118-to-lys missense mutation in EDNRB is responsible for lethal white foal syndrome. Breedings between particular spotted horses, generally described as frame overo, produce some foals that, in contrast to their parents, are all white or nearly all white and die shortly after birth of severe intestinal blockage. ... Metallinos et al. (1998) found that lethal white foal syndrome occurred in homozygotes; heterozygotes showed the frame overo pattern. ... Santschi et al. (1998) likewise studied the ile118-to-lys change in the overo lethal white syndrome in foals born to American Paint Horse parents of the overo coat pattern lineage.
HSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome (277580), Mowat-Wilson syndrome (235730), Goldberg-Shprintzen syndrome (609460), and congenital central hypoventilation syndrome (CCHS; 209880). ... Six of 63 probands in the Passarge (1967) study were cases of Down syndrome. Garver et al. (1985) confirmed the relatively high frequency of Hirschsprung disease in Down syndrome (5.9%). ... Other syndromes in which Hirschsprung disease occurs include cartilage-hair hypoplasia (250250), Smith-Lemli-Opitz syndrome (270400), and primary central hypoventilation syndrome (Ondine-Hirschsprung disease; 209880). ... There were no stigmata of Waardenburg syndrome, which is sometimes accompanied by megacolon (see 193500). ... This may have been been the Waardenburg-Shah syndrome, which is a recessive disorder (277580).
Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
HSCR can also be associated with additional anomalies such as sensorineural hearing loss (neurologic Waardenburg-Shah syndrome), limb anomalies (Bardet-Biedl syndrome), intellectual deficit (Mowat-Wilson syndrome), central alveolar hypoventilation (Haddad syndrome), or medullary thyroid carcinoma (multiple endocrine neoplasia syndrome type 2B). HSCR is also associated with chromosomal abnormalities, mainly Down syndrome (see these terms). Etiology HSCR is a neurocristopathy and is due to a defect in the development of the enteric nervous system. ... Assessment for associated anomalies allows the detection of syndromic HSCR. Plain abdominal radiography, lower gastrointestinal contrast studies, and ultrasound are useful in excluding alternative diagnoses.
Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
Hirschsprung disease (HSCR) is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to pass stools from the body normally. Symptoms of Hirschsprung disease usually start in very young children, but may occur later. The symptoms may vary with age, but often involve constipation and/or obstruction of the bowel . Other signs and symptoms include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth.
For the 2019 virus, see Severe acute respiratory syndrome coronavirus 2 . For the ongoing pandemic, see COVID-19 pandemic . ... Although coronaviruses are endemic in humans and infections normally mild, such as the common cold (caused by human coronaviruses in ~15% of cases), cross-species transmission has produced some unusually virulent strains which can cause viral pneumonia and in serious cases even acute respiratory distress syndrome and death. [1] [2] [3] [4] Contents 1 Species 2 Etymology 3 See also 4 References Species [ edit ] The following viruses could initially be referred to as "novel coronavirus", before being formally named: Human pathogenic novel coronaviridae species Official name Other names Original host [a] Place (date) of discovery Disease caused Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) [b] [4] [5] 2019-nCoV; SARS virus 2; Human coronavirus 2019 (HCoV-19) bats , pangolins Wuhan, China (2019) coronavirus disease 2019 (COVID-19) [c] [4] [6] Middle East respiratory syndrome-related coronavirus (MERS-CoV) [d] Middle East virus; MERS virus; camel flu virus camels , bats Jeddah, Saudi Arabia (2012) Middle East respiratory syndrome (MERS) Human coronavirus HKU1 (HCoV-HKU1) New Haven virus mice Hong Kong (2005) unnamed, extremely rare, usually mild variant of coronavirus respiratory syndrome Severe acute respiratory syndrome coronavirus (SARS-CoV-1) [b] SARS virus civets , bats Foshan, China (2002) severe acute respiratory syndrome (SARS) ^ Host jump capability may not persist ^ a b This virus is not a distinct species , but rather a strain of the species SARSr-CoV ^ Synonyms include 2019 coronavirus pneumonia and Wuhan respiratory syndrome ^ Strains include HCoV-EMC/2012 and London1 novel CoV/2012 All four viruses are part of the Betacoronavirus genus within the coronavirus family. ... Chapter 31. ^ Cunha (2010). pp. 6–18. ^ Melmed (2011). p. 636 ^ a b c "The 2019–2020 Novel Coronavirus (Severe Acute Respiratory Syndrome Coronavirus 2) Pandemic: A Joint American College of Academic International Medicine‑World Academic Council of Emergency Medicine Multidisciplinary COVID‑19 Working Group Consensus Paper" .
Bonneau et al. (1991) pointed to reports of some 12 cases of neonatal 'Marfan syndrome' which might represent this same syndrome. ... They noted that among 17 previously reported cases with the same syndrome, 1 was found to have a translocation involving 7q31 (Huret et al., 1991).
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida.
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts.
Buyse and Bull (1978) described 3 infant sibs (2 males and a female) who were stillborn or who died within the first hour after birth. The parents were normal and not consanguineous. The clinical findings included microcephaly, bilateral cataracts, and multiple prenatal bone fractures. The brain was small, with poorly developed sulci and gyri. The calvaria was soft, and there was foreshortening and bowing of the lower limbs. Blue sclerae were noted in 2 of the 3 infants. Limbs - Bowing of limbs due to multiple fractures Radiology - Multiple prenatal fractures Neuro - Microcephaly - Small brain - Poorly developed sulci and gyri Skull - Wormian bones - Soft calvaria - Platybasia Inheritance - Autosomal recessive Skel - Numerous multiple fractures that are present at birth Eyes - Blue sclerae - Bilateral cataracts Misc - Stillborn or neonatal death Lab - Normal blood biochemistry Growth - Short limb dwarfism Skin - Thin skin Thorax - Pectus carinatum - Pectus excavatum ▲ Close
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti.
Shapira et al. (1992) concluded that 'these sibs represent a distinct, previously unreported, probably autosomal recessive syndrome.' Sharma et al. (2019) reported a 5-year-old boy of Native American and Mexican descent who had abnormal hair and cognitive dysfunction.
A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia.
Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood.
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina.
Stratton and Bluestone (1991) described a family in which a male infant had features of otopalatodigital syndrome type II (OPD2; 304120) as well as hydrocephalus and cerebellar hypoplasia; 2 maternal uncles died neonatally with congenital hydrocephalus and digital abnormalities consistent with OPD II.
A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis.
A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungueal hyperkeratosis, and functional hypohidrosis.
Witkop et al. (1975) described a kindred segregating for a syndrome comprising hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis.
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs).
Sofer et al. (1983) described father and son with bilateral absence of the thumb and radius, short stature, mild external ear malformation, and renal anomaly (in the father, absent right renal kidney; in the son, crossed renal ectopia of the left kidney). The son showed a high frequency of chromosome breaks in lymphocytes. The father had 5 unaffected sibs; his parents were normal, including intravenous pyelography. The father was not blood-related to his wife; both were of Jewish-Moroccan origin. Siegler et al. (1980) described radial ray defect and renal disease in 2 sibs. Limbs - Bilateral absent thumb and radius Inheritance - Autosomal dominant GU - Renal anomaly - Absent kidney - Crossed renal ectopia Lab - High frequency of chromosome breaks in lymphocytes Growth - Short stature Ears - External ear malformation ▲ Close
Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots.
A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.
Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger.
Aguirre-Negrete et al. (1981) and Hernandez et al. (1982) reported Mexican families with keratosis of the palms and soles in combination with radial curvature of the fifth finger. A family with 'tylosis' and clinodactyly was reported by Anderson and Klintworth (1961) also. Limbs - Fifth finger clinodactyly Inheritance - Autosomal dominant Skin - Keratosis palmaris - Keratosis plantaris ▲ Close