Nearly everyone with brain-lung-thyroid syndrome has brain-related movement abnormalities. ... Lung problems are common in brain-lung-thyroid syndrome. Some affected newborns have respiratory distress syndrome, which causes extreme difficulty breathing and can be life-threatening. ... Recurrent lung infections, which can be life-threatening, also occur in people with brain-lung-thyroid syndrome. People with brain-lung-thyroid syndrome have a higher risk of developing lung cancer than do people in the general population. Frequency Brain-lung-thyroid syndrome is a rare disorder; its prevalence is unknown. ... Problems with these organs underlie benign hereditary chorea, respiratory distress syndrome, congenital hypothyroidism, and other features of brain-lung-thyroid syndrome.
Half of the patients developed the complete triad of brain-lung-thyroid syndrome, whereas 14 (30%) of 46 had brain and thyroid disease, 6 (13%) of 46 had chorea only, and 3 (7%) of 46 had no neurologic signs with lung and thyroid disease or thyroid disease only. ... Lung disease occurred in 25 (54%) of 46 patients, with infant respiratory distress syndrome present at term in 19 (76%) patients and recurrent pulmonary infections in 6 (24%). On follow-up, 5 (20%) of 25 developed severe chronic interstitial lung disease, and 4 (16%) of 25 died from respiratory failure or infant respiratory distress syndrome. Thorwarth et al. (2014) identified 25 unrelated patients with NKX2-1 mutations (17) or deletions involving the NKX2-1 gene (8).
Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms). ... Clinical description The clinical spectrum varies from the complete triad of brain-lung-thyroid syndrome (50%), to brain and thyroid disease (30%), or isolated BHC (13%), which is the mildest expression of the syndrome. ... Mild intellectual deficit may be present in some patients. Etiology Brain-lung-thyroid syndrome is caused by mutations in the thyroid transcription factor 1 gene ( NKX2-1/TITF1 ; 14q13.3). ... Diagnosis of brain-lung-thyroid syndrome is confirmed by genetic testing showing mutations in the NKX2-1 gene. Differential diagnosis Differential diagnoses include other forms of congenital hypothyroidism, other causes of infant respiratory distress syndrome, genetic forms of surfactant protein deficiency, and other causes of chorea.
Brain-lung-thyroid syndrome is a rare movement disorder that begins in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by low muscle tone (hypotonia) which evolves into benign hereditary chorea and ataxia, neonatal respiratory distress syndrome and/or interstitial lung disease , and congenital hypothyroidism . ... Respiratory distress symptoms and interstitial lung disease should be treated as needed. Brain-lung-thyroid syndrome is caused by mutations in the NKX2-1 gene. It is passed through families in an autosomal dominant fashion. Brain-lung-thyroid syndrome represents the most severe expression of the NKX2-1 -related disorders, with benign hereditary chorea at the milder end of the spectrum.
Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. ... There are five types of Loeys-Dietz syndrome, labelled types I through V, which are distinguished by their genetic cause. ... In individuals with Loeys-Dietz syndrome, dural ectasia typically does not cause health problems. ... Frequency The prevalence of Loeys-Dietz syndrome is unknown. Loeys-Dietz syndrome types I and II appear to be the most common forms. ... The overactive TGF-β pathway disrupts the development of the extracellular matrix and various body systems, leading to the signs and symptoms of Loeys-Dietz syndrome. Learn more about the genes associated with Loeys-Dietz syndrome SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2 Inheritance Pattern Loeys-Dietz syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Diencephalic syndrome Other names Diencephalic syndrome of emaciation The diencephalon, which is affected by diencaphalic syndrome, consists of the thalamus , the subthalamus , the hypothalamus , and the epithalamus . Specialty Neurology Diencephalic syndrome , or Russell's syndrome is a rare neurological disorder seen in infants and children and characterised by failure to thrive and severe emaciation despite normal or slightly decreased caloric intake. Classically there is also locomotor hyperactivity and euphoria. Less commonly diencephalic syndrome may involve skin pallor without anaemia , hypoglycaemia , and hypotension . [1] The syndrome is a rare but potentially fatal cause of failure to thrive in children. ... PMID 15930202 . ^ Russell A (1951). "A diencephalic syndrome of emaciation in infancy and childhood" . ... "Inappropriate growth hormone release in the diencephalic syndrome of childhood: case report and 4 year endocrinological follow-up".
Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.
Diencephalic syndrome is a condition caused by a tumor located in a portion of the brain above the brainstem called the diencephalon . ... Other symptoms may include abnormal eye movements and vision issues, vomiting, and hydrocephalus. Diencephalic syndrome is most commonly caused by astrocytomas; however, other types of tumors may be associated including ependymoma , dysgerminoma , and ganglioma .
In rare cases, arrhythmias associated with Wolff-Parkinson-White syndrome can lead to cardiac arrest and sudden death. ... Wolff-Parkinson-White syndrome often occurs with other structural abnormalities of the heart or underlying heart disease. ... Frequency Wolff-Parkinson-White syndrome affects 1 to 3 in 1,000 people worldwide. Wolff-Parkinson-White syndrome is a common cause of an arrhythmia known as paroxysmal supraventricular tachycardia. ... Learn more about the gene associated with Wolff-Parkinson-White syndrome PRKAG2 Inheritance Pattern Most cases of Wolff-Parkinson-White syndrome occur in people with no apparent family history of the condition.
The familial occurrence of the Wolff-Parkinson-White syndrome has been reported many times (Harnischfeger, 1959). ... Anderson et al. (2001) emphasized the importance of careful definition of the phenotype in studies of presumed familial WPW syndrome. They quoted Vidaillet et al. (1987) as suggesting that in familial WPW syndrome structural changes are rare. ... Kimura et al. (1997) presented data indicating that the WPW syndrome can be associated with more than one type of CMH. ... In 47 asymptomatic children with WPW syndrome ablation was performed in 20 and no ablation in 27. ... In affected members of 2 families with WPW syndrome, they identified an arg302-to-gln mutation in the PRKAG2 gene (602743.0001).
A number sign (#) is used with this entry because of evidence that Schmid-type metaphyseal chondrodysplasia (MCDS) is caused by heterozygous mutation in the COL10A1 gene (120110) on chromosome 6q22. Description Schmid-type metaphyseal chondrodysplasia is characterized by short stature and bowing of the long bones; radiographic features include widening and irregularity of the growth plates, especially in the distal and proximal femora (summary by Makitie et al., 2005). Clinical Features Stephens (1943) reported a Mormon kindred in which over 40 members of 4 generations were affected with what he considered to be achondroplasia. The x-ray findings as demonstrated in his figures and as reviewed by Caffey and Christensen (1963) were, however, those of metaphyseal chondrodysplasia. In a 3-year-old child the interpediculate distances and greater sciatic groove were normal and the typical metaphyseal changes were demonstrated.
Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait. Epidemiology Prevalence is unknown. Etiology The disorder is caused by mutations in the COL10A1 (6q21-q22) gene encoding the collagen alpha-1(X) chain. Diagnostic methods The condition is usually diagnosed during the second or third year of life. Diagnosis relies on detection of the metaphyseal lesions at radiography. Differential diagnosis Hypochondroplasia (see this term) and sequelae from rickets are the principle differential diagnoses.
Metaphyseal chondrodysplasia, Schmid type (MCDS) is a type of skeletal disorder in which there is abnormal bone formation at the end of the long bones (metaphyses). Symptoms include short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Additional signs and symptoms may include lumbar lordosis , leg pain, joint pain, hip deformities, and an outward flaring of the bones of the lower rib cage. As a result of the hip and leg findings, individuals with this condition may have an unusual walk that resembles a waddle. The condition is often mistaken for vitamin D-deficient rickets . MCDS is caused by a mutation in one of the collagen genes known as COL10A1 .
Scimitar syndrome Scimitar syndrome chest CT Specialty Medical genetics Scimitar syndrome , or congenital pulmonary venolobar syndrome, is a rare congenital heart defect characterized by anomalous venous return from the right lung (to the systemic venous drainage, rather than directly to the left atrium). [1] This anomalous pulmonary venous return can be either partial (PAPVR) or total (TAPVR). ... References [ edit ] ^ Sehgal, Arvind; Loughran-Fowlds, Allison, Clinical Brief: Scimitar Syndrome (PDF) , medIND — Biomedical journals from India , retrieved 2008-02-28 ^ a b Scimitar Syndrome , Children's Hospital Boston , retrieved 2008-02-28 ^ Oransky, Ivan (2006). ... PMID 14872299 . A case of Scimitar Syndrome Halasz NA, Halloran KH, Liebow AA (November 1956). ... "Surgical management of scimitar syndrome: an alternative approach". J. Thorac. ... Hasan M, Varshney A, Agarwal P (2016). "A case of scimitar syndrome: anesthetic considerations regarding non cardiac surgery" (PDF) .
Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt. ... Differential diagnosis Scimitarsyndrome must be differentiated from pseudoscimitar syndrome (abnormal descending vein draining into the left atrium) and from Kartagener syndrome (see this term). Antenatal diagnosis Prenatal diagnosis is feasible by fetal echocardiography. Rarely, Scimitar syndrome is diagnosed incidentally in older children and adults who undergo chest radiography for diverse reasons. ... Prognosis When diagnosed in infancy, the syndrome is associated with significant mortality due to severe respiratory insufficiency, cardiac failure, and pulmonary infections.
Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and bones. ... Shwachman-Diamond syndrome also affects the pancreas , which is an organ that plays an essential role in digestion. ... In most infants with Shwachman-Diamond syndrome, the pancreas does not produce enough of these enzymes. ... Pancreatic insufficiency often improves with age in people with Shwachman-Diamond syndrome. Skeletal abnormalities are another common feature of Shwachman-Diamond syndrome. ... Other genes involved in Shwachman-Diamond syndrome appear to play roles in the assembly or function of ribosomes.
A number sign (#) is used with this entry because Shwachman-Diamond syndrome-1 (SDS1), also known as the Shwachman-Bodian-Diamond syndrome, is caused by compound heterozygous or homozygous mutations in the SBDS gene (607444) on chromosome 7q11. ... Myelodysplastic syndrome and acute myeloid leukemia occur in up to one third of patients (summary by Dror and Freedman, 1999). For a review of Shwachman-Diamond syndrome, see Dror and Freedman (2002). Genetic Heterogeneity of Schwachman-Diamond Syndrome Schwachman-Diamond syndrome-2 (SDS2; 617941) is caused by mutation in the EFL1 gene (617538) on chromosome 15q25. ... Similarities in phenotype between isolated cases and affected sib sets supported the hypothesis that Shwachman syndrome is a single disease entity. Cipolli et al. (1999) provided long-term follow-up of 13 patients with Shwachman syndrome diagnosed in infancy.
Summary Clinical characteristics. Shwachman-Diamond syndrome (SDS) is characterized by: exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML); and bone abnormalities. ... Diagnosis Suggestive Findings Shwachman-Diamond syndrome (SDS) should be suspected in individuals with some or all of the following clinical findings. ... One 25-year survey revealed that seven of 21 individuals with SDS developed myelodysplastic syndrome; five of these seven developed AML [Smith et al 1996]. ... Nomenclature Previously used terms for SDS: Shwachman's syndrome Congenital lipomatosis of the pancreas Shwachman-Bodian syndrome Prevalence It has been estimated that SDS occurs in one of 77,000 births based on the observation that it is approximately 1/20th as frequent as cystic fibrosis in North America [Goobie et al 2001]. ... Differential Diagnosis Features of Shwachman-Diamond syndrome (SDS) (e.g., poor growth and transient neutropenia) may have multiple causes in young children (see Table 2).
A number sign (#) is used with this entry because of evidence that Shwachman-Diamond syndrome-2 (SDS2) is caused by homozygous mutation in the EFL1 gene (617538) on chromosome 15q25. Description Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017). For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (260400). Clinical Features Stepensky et al. (2017) reported a 6-year-old Mexican boy and his 4-year-old sister (family A) who had short stature, mild global developmental delay, severe myopia, exocrine pancreatic insufficiency, and bilateral genu varum.
Shwachman-Diamond syndrome (SDS) affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. ... People with SDS are at increased risk for blood cancers. Shwachman-Diamond syndrome can be caused by the SBDS , DNAJC21 , EFL1 , or SRP54 gene not working correctly.
Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. ... Hematologic manifestations may be complicated by bone marrow aplasia, acute myeloid leukemia or a myelodysplastic syndrome (see these terms). In the neonatal period there are generally no symptoms observed but some cases were reported with pancytopenia, respiratory distress, and severe spondylometaphyseal dysplasia (see this term). ... Differential diagnosis Differential diagnoses include cystic fibrosis, Pearson syndrome, Fanconi anemia, Johanson-Blizzard syndrome, Blackfan-Diamond anemia, celiac disease, and autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (see these terms).
The authors noted that similar renal lesions had been reported in Meckel syndrome and Goldston syndrome, but suggested a distinction from Meckel syndrome due to the presence of Dandy-Walker malformation and the absence of polydactyly and occipital meningoencephalocele. ... Postmortem examination showed evidence of the oligohydramnios syndrome and microscopic lesions in the liver. ... Gulcan et al. (2001) reported a case of Goldston syndrome in a prematurely born male neonate. ... Moerman et al. (1993) concluded that Goldston syndrome is not a distinct entity, but rather is a variant of Meckel syndrome, of which the Dandy-Walker malformation can be a component. ... Moerman et al. (1993) concluded that Goldston syndrome is a variant of Meckel syndrome, of which the Dandy-Walker malformation can be a component.
NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.
A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5 , FACL4 and AMMECR1 .
A number sign (#) is used with this entry because of evidence that midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) is caused by hemizygous mutation in the AMMECR1 gene (300195) on chromosome Xq22. Description Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017). Clinical Features Andreoletti et al. (2017) reported 2 maternal half brothers with MFHIEN. Both boys had dysmorphic features, including large forehead, midface hypoplasia, small mouth with crowded teeth, downslanting palpebral fissures, thin upper lip, micrognathia, short neck, subcutaneous cleft palate, bifid uvula, square hands, fifth finger clinodactyly, and short stature.
Jonsson et al. (1998) described a family with 4 members, a mother, 2 sons, and a daughter, with features of X-linked Alport syndrome. In addition, the 2 males had mental retardation, dysmorphic facies with midface hypoplasia, and elliptocytosis. ... Jonsson et al. (1998) proposed that the additional features in the affected males might be due to disruption of genes adjacent to COL4A5 and that the phenotype might represent a contiguous gene deletion syndrome. Piccini et al. (1998) presented evidence that this was a true contiguous gene syndrome involving both the COL4A5 and FACL4 (300157) genes. ... Vitelli et al. (1999) showed that another gene deleted in this syndrome is AMMECR1 (300195). Meloni et al. (2002) identified a second family with Alport syndrome and mental retardation, confirmed the existence of a contiguous gene syndrome in Xq22.3, which they called ATS-MR, and characterized the deletion in the 2 ATS-MR families. ... Meloni et al. (2002) further characterized the contiguous gene syndrome on Xq22.3 as well as the previously known contiguous gene syndrome in this region, ATS-DL (Alport syndrome and diffuse leiomyomatosis; 308940). Both syndromes involve deletion of COL4A5, but whereas ATS-DL extends centromerically, ATS-MR extends telomerically with respect to the collagen gene.
Sugarman syndrome Sugarman syndrome has an autosomal recessive pattern of inheritance . Sugarman syndrome is the common name of autosomal recessive oral-facial-digital syndrome type III, one of ten distinct genetic disorders that involve developmental defects to the mouth. [1] Alternative names for this condition include: Brachydactyly of the hands and feet with duplication of the first toes , Sugarman brachydactyly and Brachydactyly with major proximal phalangeal shortening. [2] References [ edit ] ^ "Oral-Facial-Digital Syndrome" . ... Retrieved 2007-04-02 . ^ Office of Rare Diseases (July 19, 2006). "Sugarman Syndrome" . National Institutes of Health .
Clinical Features Sugarman et al. (1971) reported a new form of oral-facial-digital syndrome in 2 sisters. Features were mental retardation, eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula, postaxial hexadactyly of hands and feet, pectus excavatum, short sternum, and kyphosis. ... Others had suggested Biedl-Bardet syndrome (209900) as the diagnosis, as often happens when the combination of mental retardation and polydactyly is encountered. ... Some of the features overlapped with those of OFD syndrome VI (277170) and Joubert syndrome (213300).
Congenital nephrotic syndrome Finnish type is a genetic condition of the kidney that begins early in development during pregnancy or within the first three months of life. The syndrome is characterized by a group of symptoms, including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling ( nephrotic syndrome ), which progresses rapidly to end-stage kidney disease . Infants with congenital nephrotic syndrome may have failure to thrive and frequent infections. Although more commonly seen in individuals of Finnish descent, congenital nephrotic syndrome Finnish type has been reported worldwide. Congenital nephrotic syndrome Finnish type is caused by mutations in the NPHS1 gene and is inherited in an autosomal recessive manner.
Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months. The features of congenital nephrotic syndrome are caused by failure of the kidneys to filter waste products from the blood and remove them in urine. ... Frequency Congenital nephrotic syndrome affects 1 to 3 per 100,000 children worldwide. In Finland, where this condition is particularly common, congenital nephrotic syndrome is estimated to affect 1 in 10,000 children. ... Mutations in other genes cause a small number of cases of congenital nephrotic syndrome. Fifteen to 20 percent of individuals with congenital nephrotic syndrome do not have an identified mutation in one of the genes associated with this condition.
Description The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. ... Genetic Heterogeneity of Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Nephrotic syndrome and FSGS are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. ... Clinical Management NPHS1 is a form of steroid-resistant nephrotic syndrome. Mahan et al. (1984) found that steroids or cytotoxic drugs, alone or in combination, were without benefit in 41 patients with congenital nephrotic syndrome. ... For discussion of a possible association between nephrotic syndrome and variation in the FAT1 gene, see 600976.0001. For discussion of a possible association between nephrotic syndrome and variation in the KANK1 gene, see 607704.0002.
A rare congenital nephrotic syndrome characterized by massive protein loss and marked edema manifesting in utero or during the first 3 months of life. Epidemiology This type of nephrotic syndrome is more frequent in Finland with a prevalence of 1/8,200 births. ... Children usually have low birth weight and are born prematurely; the weight of the placenta constitutes more than 25% of the birth weight. Severe nephrotic syndrome develops soon after birth; typical features include hypoalbuminemia, hyperlipidemia, hypothyreosis, abdominal distension and edema with associated failure to thrive, increased susceptibility to thromboembolic events and severe infections. ... Differential diagnosis Differential diagnoses include other forms of early onset nephrotic syndrome, including Denys Drash syndrome, Pierson syndrome, Galloway Mowat syndrome, Schimke immuno-osseous dysplasia and congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization. ... Management and treatment The nephrotic syndrome does not respond to any immunosuppressive therapy and treatment is largely symptomatic, comprising frequent albumin infusions, protein-rich diet, anti-proteinuric pharmacotherapy with RAS (renin-angiotensin system) inhibitors and indomethacin, anticoagulation, thyroid hormone supplementation and aggressive treatment of infections.
Neonatal ichthyosis–sclerosing cholangitis syndrome Other names NISCH syndrome Specialty Dermatology Neonatal ichthyosis–sclerosing cholangitis syndrome (also known as " NISCH syndrome " [1] and " ichthyosis –sclerosing cholangitis syndrome " [1] ) is a cutaneous condition caused by mutations in the Claudin 1 gene . [1] See also [ edit ] Ichthyosis prematurity syndrome List of cutaneous conditions References [ edit ] ^ a b c Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
Clinical Features Baala et al. (2002) described a novel autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, sclerosing cholangitis, and leukocyte vacuolization in 4 affected individuals from 2 small inbred Moroccan kindreds. This syndrome shares some similarities with Dorfman-Chanarin syndrome (275630) but is distinct in that there is lack of muscular or ocular involvement, hepatomegaly is related to cholestasis and sclerosing cholangitis and not fatty infiltration, and small leukocytes and keratinocyte vacuoles are negative for lipid staining.
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. ... The hepatic disease may have variable expressivity, ranging from a progressive disease resulting in liver failure to regression of cholestasis. Etiology NISCH syndrome is caused by a mutation in the CLDN1 gene coding for the tight junction protein claudin-1. ... Differential diagnosis The differential diagnosis should include Dorfman-Chanarin syndrome and other syndromic forms of ichthyosis (see these terms). Genetic counseling NISCH syndrome shows an autosomal recessive pattern of inheritance.
A number sign (#) is used with this entry because vitelliform macular dystrophy-2 (VMD2), also known as Best disease, is caused by heterozygous mutation in the bestrophin gene (BEST1; 607854) on chromosome 11q12. Description Best vitelliform macular dystrophy is an early-onset autosomal dominant disorder characterized by large deposits of lipofuscin-like material in the subretinal space, which creates characteristic macular lesions resembling the yolk of an egg ('vitelliform'). Although the diagnosis of Best disease is often made during the childhood years, it is more frequently made much later and into the sixth decade of life. In addition, the typical egg yolk-like lesion is present only during a limited period in the natural evolution of the disease; later, the affected area becomes deeply and irregularly pigmented and a process called 'scrambling the egg' occurs, at which point the lesion may appear as a 'bull's eye.' The disorder is progressive and loss of vision may occur. A defining characteristic of Best disease is a light peak/dark trough ratio of the electrooculogram (EOG) of less than 1.5, without aberrations in the clinical electroretinogram (ERG).
Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina , the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula . The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to build up in cells underlying the macula.
Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration . It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is characterized by atrophy of the retinal pigment epithelium (The retina is the back part of the eye that contains the specialized cells that respond to light, known as photoreceptors) and impaired central visual function. BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported.
Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. Epidemiology The prevalence is estimated to be between 1/5,000 and 1/67,000 in northern Sweden and Denmark respectively. Males are more affected than females (3:1). Clinical description Onset of BVMD is in childhood and sometimes in later teenage years (5-13 years). Affected individuals have normal vision at birth. BVMD then progresses through distinct stages that include an asymptomatic previtelliform phase (stage 1) followed by the formation of a yellow, egg yolk-like (vitelliform) lesion in the macula (stage 2). The contents become less homogenous and develop a "scrambled-egg" appearance (stage 2a).
The patient died of toxic shock syndrome at the age of 20 months. Cohen et al. (1980) observed a decreased presence of ecto-5-nucleotidase on the peripheral lymphocytes of a patient with Omenn syndrome, but concluded that this finding is not specific for the disease. ... Rybojad et al. (1996) described a Moroccan male infant, born to consanguineous parents, who manifested nephrotic syndrome in addition to typical findings of Omenn syndrome. ... De Saint-Basile et al. (1991) studied 5 unrelated patients with Omenn syndrome; 2 were born of consanguineous parents. ... Cavazzana-Calvo et al. (1993) presented further evidence that the Omenn syndrome is a leaky T-, B- SCID phenotype. ... Both mutations were also identified in patients with Omenn syndrome. The authors concluded that there was an additional factor required for the phenotypic expression of Omenn syndrome.
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term). ... Some patients present with some but not all of these symptoms and may be described as having atypical Omenn syndrome. OS may also be associated with syndromic disorders including cartilage-hair hypoplasia (CHH), adenosine deaminase (ADA) deficiency, monosomy 22q11, coloboma of the eye, CHARGE syndrome and ligase 4 deficiency (see these terms). ... Differential diagnosis Differential diagnoses include graft-versus-host disease, histiocytosis, Job syndrome, Netherton syndrome, and severe combined immunodeficiencies (see these terms), particularly those associated with maternal T-cell engraftment.
Omenn syndrome is an inherited disorder of the immune system (immunodeficiency). ... In addition to immunodeficiency, children with Omenn syndrome develop autoimmunity, in which the immune system attacks the body's own tissues and organs. ... If not treated in a way that restores immune function, children with Omenn syndrome usually survive only until age 1 or 2. Frequency Overall, the various forms of SCID are estimated to affect 1 in 75,000 to 100,000 newborns. The exact prevalence of Omenn syndrome is unknown. Causes Mutations in several genes involved in immune system function can cause Omenn syndrome. ... RAG1 and RAG2 gene mutations that cause Omenn syndrome drastically reduce the respective protein's function.
Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive , lymphadenopathy (enlarged lymph nodes), eosinophilia , hepatosplenomegaly, and elevated serum IgE levels. Patients are highly susceptible to infection and develop fungal, bacterial, and viral infections typical of SCID. In this syndrome, the SCID is associated with low IgG, IgA, and IgM and the virtual absence of B cells. There is an elevated number of T cells, but their function is impaired. Omenn syndrome has been found to be caused by mutations in the RAG1 or RAG2 genes. ... Early recognition of this condition is important for genetic counseling and early treatment. If left untreated, Omenn syndrome is fatal. The prognosis may be improved with early diagnosis and treatment with compatible bone marrow or cord blood stem cell transplantation.
A number sign (#) is used with this entry because of evidence that Fuchs endothelial corneal dystrophy-3 (FECD3) is caused by heterozygous intronic trinucleotide repeat expansion (CTG)n in the TCF4 gene (602272) on chromosome 18q21. Description Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).
A number sign (#) is used with this entry because of evidence that Fuchs endothelial corneal dystrophy-8 (FECD8) is caused by heterozygous mutation in the AGBL1 gene (615496) on chromosome 15q25. Description Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of FECD, see FECD1 (136800).
Description Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of Fuchs corneal dystrophy, see FECD1 (136800). Nomenclature The late-onset form of Fuchs endothelial corneal dystrophy mapping to chromosome 5q33.1-q35.2 is referred to in OMIM as FECD5.
For a phenotypic description and a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800). Nomenclature This disorder, a late-onset form of Fuchs endothelial corneal dystrophy mapping to chromosome 9p24.1-p22.1, is referred to in OMIM as FECD7. Some references in the literature (e.g., Riazuddin et al., 2010) use the designation 'FCD4 locus' to refer to the genetic locus for FECD on chromosome 9. Mapping In a large pedigree with late-onset FECD, Riazuddin et al. (2010) identified a Q840P mutation in the ZEB1 gene (189909.0004) in 7 of 12 affected individuals (see FECD6, 613270). A genomewide scan in the pedigree identified an additional locus for FECD on chromosome 9p24.1-p22.1, with a maximum 2-point lod score of 3.48 at D9S256 (theta = 0.00), in 10 of the 12 affected individuals.
A number sign (#) is used with this entry because of evidence that Fuchs endothelial corneal dystrophy-1 (FECD1) is caused by heterozygous mutation in the COL8A2 gene (120252) on chromosome 1p34. Description Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane.
A number sign (#) is used with this entry because of evidence that Fuchs endothelial corneal dystrophy-4 (FECD4) is caused by heterozygous mutation in the SLC4A11 gene (610206) on chromosome 20p13. Description Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).
Description Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800). Nomenclature This disorder, a late-onset form of Fuchs endothelial corneal dystrophy mapping to chromosome 13pter-q12.13, is referred to in OMIM as FECD2.
A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity. Epidemiology The exact prevalence is not known but extreme geographical variability has been reported. FECD is the most prevalent corneal dystrophy in the USA but has been found to be uncommon in Saudi Arabia and in Singaporean Chinese, and very rare in Japan. Clinical description The condition is more common and more severe in women (sex ratio 3-4:1). Patients with FECD are initially asymptomatic. Clinical onset is generally in the 5th or 6th decade of life.
Overview In Fuchs' (fewks) dystrophy, fluid builds up in the clear layer (cornea) on the front of your eye, causing your cornea to swell and thicken. This can lead to glare, blurred or cloudy vision, and eye discomfort. Fuchs' dystrophy usually affects both eyes and can cause your vision to gradually worsen over years. Typically, the disease starts in the 30s and 40s, but many people with Fuchs' dystrophy don't develop symptoms until they reach their 50s or 60s. Some medications and self-care steps may help relieve your Fuchs' dystrophy signs and symptoms.
A number sign (#) is used with this entry because of evidence that Fuchs endothelial corneal dystrophy-6 (FECD6) is caused by heterozygous mutation in the ZEB1 gene (189909) on chromosome 10p11. Description Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).
Paraneoplastic syndrome Specialty Oncology A paraneoplastic syndrome is a syndrome (a set of signs and symptoms ) that is the consequence of cancer in the body, specifically due to the production of chemical signalling molecules (such as hormones or cytokines ) by tumor cells or by an immune response against the tumor. ... A specific prognosis for those with paraneoplastic syndromes links to each unique case presented. ... Paraneoplastic syndromes of this nature tend to occur in the setting of late stage and aggressive tumors with poor overall outcomes (endocrine manifestations, neurological entities, dermatological conditions, and other syndromes). ... S2CID 35258253 . ^ Staszewski H (1997). "Hematological paraneoplastic syndromes". Semin. Oncol . 24 (3): 329–33. ... PMID 15146039 . ^ Darnell RB, Posner JB (2006). "Paraneoplastic syndromes affecting the nervous system".
Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features. Epidemiology Prevalence is unknown but most of these syndromes have been reported in only a few families. Clinical description At present this group includes the Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, Renier-Gabreels-Jasper, Smith-Fineman-Myers and Chudley-Lowry syndromes (see these terms). Etiology These syndromes are caused by a mutation in the helicase 2 ( XH2 / ATRX ; Xq13.3) gene. Differential diagnosis These syndromes show clinical similarity to alpha-thalassemia-X-linked mental retardation (ATR-X syndrome; see this term), which is also caused by a mutation in the ATRX gene, but all patients with a mental retardation-hypotonic facies syndrome display normal haematologic indices and do not appear to exhibit the haemoglobin H inclusions characteristic of ATR-X.
An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). Epidemiology Prevalence is unknown but the syndrome was first described in 1982 in five males from two generations of one family (three brothers and two of their maternal uncles). Clinical description The syndrome is characterised by the association of microcephaly, spasticity, epilepsy, deafness and severe intellectual deficit.
An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies). Epidemiology Prevalence is unknown but the syndrome was first described in 1988 in three males (a 3-year-old boy and his two maternal uncles) from a family in which two other males had died in infancy/childhood. ... The surviving patients also had severe intellectual deficit, short stature, mild obesity, hypogonadism, and a low total finger ridge count. Etiology The syndrome is caused by missense mutations in the ATRX gene (Xq13.3).
An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). Epidemiology Prevalence is unknown but the syndrome was originally described in 1988 in six males from three generations of one family. Clinical description In the affected males the syndrome was characterised by a coarse facial appearance (prominent lips, bushy eyebrows, widely-spaced teeth, and a broad and depressed nasal bridge with a wide nasal tip), brachydactyly with widening of the distal phalanges, short stature and moderate intellectual deficit. Etiology The syndrome is caused by mutations in the ATRX gene (Xq13.3). Genetic counseling The syndrome is transmitted as an X-linked recessive trait with skewed X-inactivation in carrier females.
An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). Epidemiology Prevalence is unknown but the syndrome was first described in 1984 in three males from two generations of the same family. Clinical description The syndrome is characterised by microcephaly, a large anterior fontanel, a characteristic facies (short nose, anteverted nares, epicanthal folds), club foot deformity and delayed psychomotor development. ... All three patients died during infancy. Etiology The syndrome is caused by mutations in the ATRX gene (Xq13.3).
Abruzzo–Erickson syndrome Other names CHARGE like syndrome X-linked [1] Causes Genetic ( X-linked recessive ) [1] Frequency Extremely rare [1] Abruzzo–Erickson syndrome is a condition that may present with deafness , protruding ears, coloboma , a cleft palate or palatal rugosity, and short stature. [2] [3] It was characterized in 1977. [4] See also [ edit ] CHARGE syndrome References [ edit ] ^ a b c "Abruzzo-Erickson syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... Hereditary hearing loss and its syndromes . New York: Oxford University Press. p. 127. ISBN 9780195065527 . ^ Abruzzo MA, Erickson RP (February 1977). "A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis" . ... External links [ edit ] Abruzzo–Erickson syndrome at NIH 's Office of Rare Diseases Classification D ICD - 10 : Q87.8 OMIM : 302905 MeSH : C535559 External resources Orphanet : 921 This genetic disorder article is a stub .
Abruzzo-Erickson syndrome is an extremely rare condition characterized by cleft palate, coloboma , hypospadius , deafness, short stature, and radioulnar synostosis .
A number sign (#) is used with this entry because of evidence that Abruzzo-Erickson syndrome (ABERS) is caused by mutation in the TBX22 gene (300307) on chromosome Xq21. ... Clinical Features Abruzzo and Erickson (1977) reported an apparently 'new' syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis expressed variably in 2 brothers, their mother, and a maternal uncle. Davenport et al. (1986) and Metlay et al. (1987) cited this family as a familial instance of CHARGE syndrome (214800). Abruzzo and Erickson (1989) provided follow-up on the 2 brothers of the family who were children at the time of the first report. ... Molecular Genetics In the family with an X-linked CHARGE-like syndrome that was originally reported by Abruzzo and Erickson (1977), Pauws et al. (2013) analyzed the candidate gene TBX22 and identified an intronic sequence variant (300307.0011) that segregated with the disease and was not found in the dbSNP database or in 539 control chromosomes.
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. ... Clinical description Abruzzo-Erickson syndrome is a congenital disorder characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. ... These manifestations overlap with those of CHARGE syndrome, however, in contrast to CHARGE syndrome; patients with Abruzzo-Erickson syndrome do not show intellectual disability nor choanal atresia or genital hypoplasia. ... Differential diagnosis Differential diagnosis include CHARGE syndrome. Antenatal diagnosis Antenatal diagnosis is possible by DNA analysis of fetal cells in maternal blood. Genetic counseling Abruzzo-Erickson syndrome is inherited in an X-linked recessive manner, with a carrier female having a 50 % risk of transmitting the mutation to her offspring.
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome (see this term), is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females. Epidemiology MRKH syndrome (including type 1 and type 2) has a worldwide prevalence of 1/4500 live female births. The rate of MRKH syndrome type 1 varies largely between different cohorts reported, therefore an accurate incidence of this type is not possible. ... Etiology The exact etiology of MRKH syndrome remains largely unknown. Initially, MRKH syndrome was considered to be of sporadic occurrence, suggesting the involvement of non-genetic or environmental factors. However, no link between an environmental cause and MRKH syndrome has ever been established. It is now clear that MRKH syndrome has a genetic origin, through increasing family descriptions and numerous genetic studies already completed.
Description Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. ... The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association (601076), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. ... Guerrier et al. (2006) reviewed the clinical features of the MRKH syndrome and MURCS association phenotypes and discussed genetic hypotheses. ... Cheroki et al. (2006) noted that the patient's deletion included loci responsible for DiGeorge syndrome (188400) and velocardiofacial syndrome (192430). ... Bernardini et al. (2009) reported 2 female patients with MRKH syndrome who had identical de novo 1.5-Mb deletions at chromosome 17q12.