Because of the female phenotype and 46,XY karyotype, they were thought to have the testicular feminization syndrome. At puberty, however, the 2 older patients developed signs of virilization and gynecomastia. ... In this study, 18 HSD17B3-deficient index cases were identified, 12 of whom initially had received the tentative diagnosis of androgen insensitivity syndrome (AIS). In genotypically identical cases, phenotypic variation for external sexual development was observed. Gonadotropin-stimulated serum testosterone/androstenedione ratios in HSD17B3-deficient patients were discriminative in all cases and did not overlap with ratios in normal controls or with ratios in AIS patients. Polycystic Ovary Syndrome Pang et al. (1987) theorized that genetic females with ovarian 17-ketosteroid reductase deficiency would probably have a normal female phenotype at birth and normal pubertal breast development but would have onset at puberty of virilization and menstrual disorders due to the sudden increase of ovarian secretion of androstenedione, which may be converted to testosterone.
17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males. Epidemiology The estimated incidence of this disease is 1 in 147 000 in The Netherlands. Clinical description The 17betaHSD III enzyme catalyzes the conversion of androstenedione to testosterone in the testis. Lack of testosterone in the fetal testis leads to genetic males with female external genitalia. Patients usually present at birth with female or ambiguous external genitalia, characterized by clitoromegaly, posterior labioscrotal fusion and perineal blind vaginal pouch.
17-beta hydroxysteroid dehydrogenase 3 deficiency is an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone . Most people with this condition are born with external genitalia that appear female. In some cases, the external genitalia are ambiguous or appear male but are abnormal in size and/or appearance. During puberty, people with this condition typically go on to develop male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. 17-beta hydroxysteroid dehydrogenase 3 deficiency is caused by mutations in the HSD17B3 gene and is inherited in an autosomal recessive pattern.
17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes ). Their bodies, however, do not produce enough of a male sex hormone (androgen) called testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth. Most people with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with external genitalia that appear female.
Longstreth (1982) observed 68-year-old identical twins and a 52-year-old woman and her 20-year-old son who had dysphagia due to lower esophageal ring. All the affected individuals also had hiatal hernia (142400). GI - Dysphagia - Lower esophageal ring - Hiatal hernia Inheritance - Autosomal dominant ▲ Close
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).
Hyperinsulinism-hyperammonemia syndrome Other names HI/HA or HHS Hyperinsulinism-hyperammonemia syndrome ( HI/HA ) is an autosomal dominant disorder that results in the excess production of insulin and ammonia in mammals . [1] HI/HA is caused by increased Glutamate dehydrogenase 1 (GDH) activity due to the presence of overactivating point mutations in GDH.
Hsu et al. (2001) concluded that the postprandial blood glucose response to a protein meal is more sensitive than prolonged fasting for detecting hypoglycemia in the hyperinsulinism/hyperammonemia syndrome. Kelly et al. (2001) postulated that children with hyperinsulinism/hyperammonemia syndrome would have exaggerated acute insulin responses to leucine in the postabsorptive state. ... The authors concluded that protein-induced hypoglycemia in hyperinsulinism/hyperammonemia syndrome patients may be prevented by carbohydrate loading before protein consumption. ... The correct diagnosis of hyperinsulinism-hyperammonemia syndrome due to a de novo heterozygous GLUD1 mutation was confirmed by genetic analysis (S445L; 138130.0002). ... Mutations of GLUD1 cause the hyperinsulinism/hyperammonemia syndrome by desensitizing glutamate dehydrogenase to allosteric inhibition by GTP. ... In the 7 families with hyperinsulinism-hyperammonemia syndrome studied by Santer et al. (2001), 4 had more than 1 affected member.
Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.
Shashi-Pena syndrome is a rare neurologic disease characterized by delayed psychologic and motor development, variable intellectual disability, and poor muscle tone (hypotonia). ... Blood exams may show episodes of low sugar (hypoglycemia), and in some cases, elevated liver enzymes (transaminases), high levels of insulin (hyperinsulinemia), and high fat levels (hyperlipidemia). Shashi-Pena syndrome is caused by variations (mutations) in the ASXL2 gene, which is important for neurologic and bone development, heart function, and glucose and lipid metabolism.
A number sign (#) is used with this entry because of evidence that Shashi-Pena syndrome (SHAPNS) is caused by heterozygous mutation in the ASXL2 gene (612991) on chromosome 2p23. Description Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. ... Clinical Features Shashi et al. (2016) reported 6 unrelated patients ranging in age from 11 months to 31 years with a similar syndromic disorder. All had variable developmental delay noted from early infancy, which was characterized mainly by delayed walking, delayed and poor speech, hypotonia, and behavioral problems such as attention difficulties and autistic features. ... Shashi et al. (2016) noted the phenotypic similarities to Bohring-Opitz syndrome (BOPS; 605039) and Bainbridge-Ropers syndrome (BRPS; 615485), which result from mutations in the ASXL1 (612990) and ASXL3 (615115) genes, respectively.
Wheeler et al. (2000) suggested that this unique genodermatosis be referred to as 'dominantly inherited generalized basaloid follicular hamartoma syndrome,' or GBFHS. Inheritance The transmission pattern of generalized basaloid follicular hamartoma syndrome in the family reported by Wheeler et al. (2000) was consistent with autosomal dominant inheritance.
Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits.
Holmes et al. (1997) reported male sibs with a possibly X-linked form of fetal akinesia syndrome. One sib died at 11 weeks of age and other sib was stillborn. ... This led Holmes et al. (1997) to suggest that there is an X-linked form of fetal akinesia syndrome(s). Also see fetal akinesia deformation sequence (208150).
A number sign (#) is used with this entry because of evidence that fetal akinesia deformation sequence-4 (FADS4) is caused by homozygous or compound heterozygous mutation in the NUP88 gene (602552) on chromosome 17p13. Description Fetal akinesia deformation sequence-4 (FADS4) is an autosomal recessive disorder characterized by decreased fetal movements due to impaired neuromuscular function, resulting in significant congenital contractures and death in utero or soon after birth (summary by Bonnin et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150. Clinical Features Bonnin et al. (2018) reported 4 sibs, conceived of consanguineous Palestinian parents (family A), with lethal arthrogryposis multiplex congenita (AMC). The only live-born infant died at 2 days of age; the other 3 died in utero either through miscarriage or termination of pregnancy due to affected status.
Mutation in the RAPSN gene can also cause a form of congenital myasthenic syndrome (CMS11; 616326). Description The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150. ... Michalk et al. (2008) described 2 sibs in a Pakistani family with fetal akinesia syndrome with congenital contractures. Respiratory distress resulted in the death of 1 sib at age 10 months. ... In a Pakistani family, Michalk et al. (2008) found that compound heterozygosity for missense mutations in the RAPSN gene (601592.0014-601592.0015) caused fetal akinesia syndrome with congenital contractures in 2 sibs.
The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity. Epidemiology The syndrome is rare: about 100 cases have been described in the literature. ... If they survive, they are likely to develop short-gut syndrome with malabsorption. Etiology The Pena-Shokeir syndrome is not a unitary entity but is etiologically heterogeneous. ... Differential diagnosis There are similarities between Pena-Shokeir syndrome type I and the trisomy 18 syndrome: both may include multiple ankyloses, camptodactyly, and rocker-bottom feet.
Mutation in the DOK7 gene can also cause a form of congenital myasthenic syndrome (CMS10; 254300). Description The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150.
It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia.
See also type II Pena-Shokeir syndrome, which is also known as COFS syndrome (214150); the separate delineation of types I and II was given by Shokeir (1982) and Houston and Shokeir (1981). ... Chen et al. (1983) suggested that pterygium may be a feature of the Pena-Shokeir syndrome, and that the lethal form of a recessively inherited syndrome described by Chen et al. (1980) and Hall et al. (1982) may represent a severe form of the Pena-Shokeir syndrome. ... They confirmed the suggestion of Smith (1982) that the Pena-Shokeir syndrome I is a primary motor neuropathy. ... Prenatal Diagnosis Muller and de Jong (1986) commented on the similarities in prenatal ultrasonographic features between Pena-Shokeir syndrome type I and the trisomy 18 syndrome. ... Hall (1986) suggested that at least 5 specific subgroups of Pena-Shokeir syndrome could be distinguished among 16 multiplex families.
Main article: Alexia (acquired dyslexia) Pure alexia , also known as agnosic alexia or alexia without agraphia or pure word blindness , is one form of alexia which makes up "the peripheral dyslexia" group. [1] Individuals who have pure alexia have severe reading problems while other language-related skills such as naming, oral repetition, auditory comprehension or writing are typically intact. [2] Pure alexia is also known as: "alexia without agraphia ", [1] "letter-by-letter dyslexia", [3] "spelling dyslexia", [4] or "word-form dyslexia". [5] Another name for it is "Dejerine syndrome", after Joseph Jules Dejerine , who described it in 1892; [6] however, when using this name, it should not be confused with medial medullary syndrome which shares the same eponym . ... For each letter that is added, a patient may take up to an additional three seconds to read the word. [16] Studies have shown that pure alexia may be a result of a disconnection syndrome. Analysis of diffusion images showed that the visual word form area (VWFA) is connected to the occipital lobe via the inferior longitudinal fasciculus (ILF), a projection that runs between the temporal and occipital lobe. functional magnetic resonance imaging (fMRI) and Diffusion Tensor Imaging (DTI) showed that two weeks after surgery in the ILF, the VWFA-Occipital Lobe tract was severely degenerated. ... "Pure alexia as a disconnection syndrome: New diffusion imaging evidence for an old concept". ... Retrieved 30 March 2015 . v t e Symptoms , signs and syndromes associated with lesions of the brain and brainstem Brainstem Medulla (CN 8, 9, 10, 12) Lateral medullary syndrome/Wallenberg PICA Medial medullary syndrome/Dejerine ASA Pons (CN 5, 6, 7, 8) Upper dorsal pontine syndrome/Raymond-Céstan syndrome Lateral pontine syndrome ( AICA ) (lateral) Medial pontine syndrome / Millard–Gubler syndrome / Foville's syndrome ( basilar ) Locked-in syndrome Internuclear ophthalmoplegia One and a half syndrome Midbrain (CN 3, 4) Weber's syndrome ventral peduncle, PCA Benedikt syndrome ventral tegmentum, PCA Parinaud's syndrome dorsal, tumor Claude's syndrome Other Alternating hemiplegia Cerebellum Latearl Dysmetria Dysdiadochokinesia Intention tremor ) Medial Cerebellar ataxia Basal ganglia Chorea Dystonia Parkinson's disease Cortex ACA syndrome MCA syndrome PCA syndrome Frontal lobe Expressive aphasia Abulia Parietal lobe Receptive aphasia Hemispatial neglect Gerstmann syndrome Astereognosis Occipital lobe Bálint's syndrome Cortical blindness Pure alexia Temporal lobe Cortical deafness Prosopagnosia Thalamus Thalamic syndrome Other Upper motor neuron lesion Aphasia v t e Dyslexia and related specific developmental disorders Conditions Speech, language , and communication Expressive language disorder Infantile speech Landau–Kleffner syndrome Language disorder Lisp Mixed receptive-expressive language disorder Specific language impairment Speech and language impairment Speech disorder Speech error Speech sound disorder Stuttering Tip of the tongue Learning disability Dyslexia Dyscalculia Dysgraphia Disorder of written expression Motor Developmental coordination disorder Developmental verbal dyspraxia Sensory Auditory processing disorder Sensory processing disorder Related topics Dyslexia research Irlen filters Learning Ally Learning problems in childhood cancer Literacy Management of dyslexia Multisensory integration Neuropsychology Reading acquisition Spelling Writing system Lists Dyslexia in fiction Languages by Writing System People with dyslexia
Individuals with LAMM syndrome commonly have motor delays during infancy presumably due to impaired balance from inner ear (vestibular) abnormalities. ... Surveillance: Yearly evaluations with a physician familiar with LAMM syndrome or other forms of hereditary deafness; regular ENT and dental evaluations. ... Other Genes of Interest in the Differential Diagnosis of LAMM Syndrome View in own window Gene(s) Disorder MOI Clinical Features of Differential Diagnosis Disorder Overlapping w/LAMM syndrome Distinguishing from LAMM syndrome FGF10 FGFR2 FGFR3 Lacrimo- a uriculo-dento-digital (LADD) syndrome (OMIM 149730) AD Hearing loss Dental anomalies Aplasia, atresia, or hypoplasia of the lacrimal & salivary systems Cup-shaped ears Digital (particularly thumb) anomalies EYA1 SIX1 SIX5 Branchiootorenal spectrum disorder AD Hearing loss Branchial fistulae & cysts Renal malformations KMT2D KDM6A Kabuki syndrome AD XL Hearing loss Strabismus Skeletal anomalies Typical facial features Dermatoglyphic abnormalities Congenital heart defects Mild-to-moderate intellectual disability SALL1 Townes-Brocks syndrome AD Microtia Hearing loss Imperforate anus or anal stenosis Typical thumb malformations w/out hypoplasia of the radius AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; XL = X-linked; LAMM = labyrinthine aplasia, microtia, and microdontia Other single-gene disorders or microdeletion/microduplication syndromes should be considered in individuals who have intellectual disability in addition to typical anomalies seen in LAMM syndrome [Dill et al 2011]. ... However, the presence of severe inner ear anomalies and Michel aplasia in individuals with LAMM syndrome limits auditory habilitation options. ... Since this risk can be minimized by avoidance, individuals with LAMM syndrome and a residual cochlea should be counseled appropriately.
See also otodental dysplasia (166750), a syndrome of sensorineural deafness and globodontia, which has been associated with hemizygous microdeletion on chromosome 11q13 involving the FGF3 gene. Nomenclature Tekin et al. (2008) proposed that this syndrome be called deafness with labyrinthine aplasia, microtia, and microdontia (LAMM). Clinical Features Tekin et al. (2007) delineated a new autosomal recessive human malformation syndrome in 3 unrelated Turkish families including 9 affected individuals ranging in age from 7 to 42 years. ... The presence of auriculodental findings was considered suggestive of lacrimoauriculodentodigital (LADD) syndrome (149730), but the lacrimal and digital findings and dominant transmission of LADD were absent in these patients. ... Sensi et al. (2011) stated that the middle ear defects could be coincidental or they might represent a variable finding in LAMM syndrome. Molecular Genetics Tekin et al. (2007) found homozygosity for a different FGF3 mutation in each of 3 Turkish families with microtia, microdontia, and Michel aplasia.
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. Epidemiology It has been described in 6 families to date.
Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth. ... Because the inner ear is important for balance as well as hearing, development of motor skills, such as sitting and crawling, may be delayed in affected infants. In addition, people with LAMM syndrome often have abnormally small outer ears (microtia ) with narrow ear canals. They can also have unusually small, widely spaced teeth (microdontia). Frequency LAMM syndrome is a rare condition, although its prevalence is unknown. Approximately a dozen affected families have been identified. Causes LAMM syndrome is caused by mutations in the FGF3 gene, which provides instructions for making a protein called fibroblast growth factor 3 (FGF3). ... FGF3 gene mutations involved in LAMM syndrome alter the FGF3 protein. The altered protein likely has reduced or absent function and is unable to stimulate signaling.
For a comprehensive review of autoimmunity in Wiskott-Aldrich syndrome, see Schurman & Candotti [2003] and Catucci et al [2012]. ... Approximately 13% of individuals with Wiskott-Aldrich syndrome develop lymphoma, at an average age of 9.5 years. ... Individuals with Wiskott-Aldrich syndrome have a significant risk of relapse or development of a second de novo lymphoma. ... Unlike individuals with WAS -related Wiskott-Aldrich syndrome, individuals with WAS2 have normal platelet volumes. ... Since the phenotype of Wiskott-Aldrich syndrome may evolve over time, optimal timing of transplantation is challenging.
Small intestine bacterial overgrowth Other names Blind loop syndrome , [1] bacterial overgrowths, small bowel bacterial overgrowth syndrome (SBBOS) The ileocecal valve prevents reflux of bacteria from the colon into the small bowel. ... PMID 17378388 . ^ Ensari A (21 Aug 2014). "The Malabsorption Syndrome and Its Causes and Consequences" . ... A new IBS solution : bacteria, the missing link in treating irritable bowel syndrome . Sherman Oaks, CA: Health Point Press. ... "Small intestinal bacterial overgrowth in irritable bowel syndrome: systematic review and meta-analysis". ... "Clinical Practice Guidelines for Irritable Bowel Syndrome in Korea, 2017 Revised Edition" .
An effect of hyperinsulinemia is the body's increased production of androgens in the ovaries. [22] This is all part of HAIR-AN syndrome , a multisystem disorder that involves increased insulin levels that prompt increased androgen levels. [23] [24] Cushing’s syndrome [ edit ] Cushing syndrome develops due to long-term exposure to the hormone cortisol . ... The intake of glucocorticoids , which are a type of steroid hormone, is a common cause for the development of exogenous Cushing's syndrome. Endogenous Cushing's syndrome can occur when the body produces excessive amounts of cortisol. ... Web. 14 November 2016. ^ "Polycystic Ovary Syndrome (PCOS)." Causes. Mayo Clinic, n.d. ... Polycystic Ovary Syndrome: MedlinePlus Medical Encyclopedia. ... External links [ edit ] Classification D ICD - 10 : E25 , E28.1 ICD - 9-CM : 255.2 MeSH : D017588 External resources MedlinePlus : 001165 eMedicine : article/273153 v t e Gonadal disorder Ovarian Polycystic ovary syndrome Premature ovarian failure Estrogen insensitivity syndrome Hyperthecosis Testicular Enzymatic 5α-reductase deficiency 17β-hydroxysteroid dehydrogenase deficiency aromatase excess syndrome Androgen receptor Androgen insensitivity syndrome Familial male-limited precocious puberty Partial androgen insensitivity syndrome Other Sertoli cell-only syndrome General Hypogonadism Delayed puberty Hypergonadism Precocious puberty Hypoandrogenism Hypoestrogenism Hyperandrogenism Hyperestrogenism Postorgasmic illness syndrome Cytochrome P450 oxidoreductase deficiency Cytochrome b5 deficiency Androgen-dependent condition Aromatase deficiency Complete androgen insensitivity syndrome Mild androgen insensitivity syndrome Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism Fertile eunuch syndrome Estrogen-dependent condition Premature thelarche Gonadotropin insensitivity Hypergonadotropic hypergonadism
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. ... Balasubramanian & Crowley [2017], Xu et al [2018] Because the majority of individuals with a pathogenic CHD7 variant have a typical CHARGE syndrome or CHARGE syndrome-like phenotype, the clinical features described below are relevant for most individuals with CHD7 disorder. ... Hypermobility and contractures can be part of the syndrome. Neuromuscular problems are common in CHARGE syndrome, mostly hypotonia (often resulting in scoliosis) and abnormal shoulder girdle muscles [O'Grady et al 2016]. ... If hyposmia or anosmia is the presenting feature, Kallmann syndrome must be considered, especially Kallmann syndrome caused by pathogenic variants in FGFR1 (pathogenic variants in 16 genes, including CHD7 , are known to be associated with Kallmann syndrome). Table 4 lists the chromosomal syndromes that overlap significantly with CHD7 disorder.
Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies. Epidemiology The prevalence is estimated at around 1/50,000. Clinical description Onset of the disease usually occurs around puberty. Patients present with greasy and colored (yellow-brown or brown) keratotic papules, which may be isolated or grouped forming plaques. The skin lesions often become infected and malodorous, and are responsible for major discomfort. They may be exacerbated by exposure to sunlight or artificial UVB radiation, heat, sweating, friction, and infections.
Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes are usually yellowish in color, hard to the touch, mildly greasy, and can emit a strong odor. The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. The mucous membranes can also be affected, with blemishes on the roof of the mouth (palate), tongue, inside of the cheek, gums, and throat. Other features of Darier disease include nail abnormalities, such as red and white streaks in the nails with an irregular texture, and small pits in the palms of the hands and soles of the feet.
A number sign (#) is used with this entry because Darier-White disease (DAR) is caused by heterozygous mutation in the ATP2A2 gene (108740), which encodes the sarcoplasmic reticulum Ca(2+)-ATPase-2, on chromosome 12q24. Description Darier-White disease, also known as keratosis follicularis, is an autosomal dominant skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead), palmoplantar pits, and distinctive nail abnormalities (Sakuntabhai et al., 1999). Onset is usually before the third decade, and penetrance is complete in adults, although expressivity is variable. Involvement may be severe, with widespread itchy malodorous crusted plaques, painful erosions, blistering, and mucosal lesions. Secondary infection is common. Sun, heat, and sweating exacerbate the symptoms.
OI can be a subcategory of dysautonomia , a disorder of the autonomic nervous system [2] occurring when an individual stands up. [3] There is a substantial overlap between syndromes of orthostatic intolerance on the one hand, and either chronic fatigue syndrome (CFS) or fibromyalgia (FM) on the other. [4] It affects more women than men (female-to-male ratio is at least 4:1), usually under the age of 35. [5] Orthostatic intolerance occurs in humans because standing upright is a fundamental stressor and requires rapid and effective circulatory and neurologic compensations to maintain blood pressure , cerebral blood flow , and consciousness . ... Stewart, an expert in OI from New York Medical College states, "Many syncopal patients have no intercurrent illness; between faints, they are well." [1] Symptoms: [6] Altered vision ( blurred vision , "white outs"/ gray outs , black outs , double vision ) Anxiety Exercise intolerance Fatigue Headache Heart palpitations , as the heart races to compensate for the falling blood pressure Hyperpnea or sensation of difficulty breathing or swallowing (see also hyperventilation syndrome ) Lightheadedness Sweating Tremulousness Weakness A classic manifestation of acute OI is a soldier who faints after standing rigidly at attention for an extended period of time. ... It was due to being diagnosed with this illness that Page left the group in 2006 and was replaced by his understudy Sam Moran . [8] [10] Two years later, he went on to create his own fund for OI to help fund research into this then little known disorder. [11] Page recovered sufficiently enough to temporarily return to The Wiggles in 2012 to help with the transition to the next generation of Wiggles, after which he again left the group and was replaced by Emma Watkins . [12] See also [ edit ] Orthostatic hypertension Orthostatic hypotension Postural orthostatic tachycardia syndrome (POTS) Vasovagal response References [ edit ] ^ a b c d Julian M. ... External links [ edit ] Classification D OMIM : 604715 MeSH : D054971 v t e Diseases of the autonomic nervous system General Dysautonomia Autonomic dysreflexia Autonomic neuropathy Pure autonomic failure Hereditary Hereditary sensory and autonomic neuropathy Familial dysautonomia Congenital insensitivity to pain with anhidrosis Orthostatic intolerance Orthostatic hypotension Postural orthostatic tachycardia syndrome Other Horner's syndrome Multiple system atrophy
Clinical Features Orthostatic intolerance is a syndrome characterized by adrenergic symptoms that occur when an upright posture is assumed: the heart rate increases by at least 30 beats per minute, without orthostatic hypotension (Jacob et al., 1997). Most patients with orthostatic intolerance are women between the ages of 20 and 50 years (Low et al., 1995). This syndrome, first described by Da Costa (1871), has been called soldiers heart (Fraser and Wilson, 1918), neurocirculatory asthenia (Wooley, 1976), and mitral valve prolapse syndrome (Boudoulas et al., 1980). It is similar in many respects to chronic fatigue syndrome (Schondorf and Freeman, 1999).
A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.
A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy.
Studies have also indicated that chronic alcoholism (see Korsakoff's syndrome ) can lead to a mild form of DES according to results of BADS. [10] Causes [ edit ] The most frequent cause of the syndrome is brain damage to the frontal lobe. ... Given such stimuli, subjects no longer performed below their age group average IQ. [18] Controversy [ edit ] Some researchers have suggested that DES is mislabelled as a syndrome because it is possible for the symptoms to exist on their own. [19] Also, there is not a distinct pattern of damage that leads to the syndrome. ... "The behavioural assessment of the dysexecutive syndrome (BADS) in schizophrenia and its relation to functional outcomes." ... "Group and case study of the dysexecutive syndrome in alcoholism without amnesia." ... "The behavioural assessment of the dysexecutive syndrome (BADS): ecological, concurrent and construct validity."
Cracked tooth syndrome Other names Cracked cusp syndrome, [1] split tooth syndrome, [1] incomplete fracture of posterior teeth [1] Cross-section of a posterior tooth . ... "Cracked tooth syndrome. Part 1: aetiology and diagnosis" . ... B.; Banerji, S. (May 2010). "Cracked tooth syndrome. Part 1: aetiology and diagnosis" . ... J. (12 June 2010). "Cracked tooth syndrome. Part 2: restorative options for the management of cracked tooth syndrome" . ... PMID 20543791 . ^ Bailey, O (2020). "Cracked tooth syndrome management part 2: integrating the old with the new" .
Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are affected in equal numbers. Most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Several rare forms are inherited in an autosomal dominant pattern. While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications.
Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD. Epidemiology The estimated prevalence for all forms of LGMD ranges from 1/44,000 to 1/123,000. Clinical description LGMD ranges from severe forms with onset in the first decade and rapid progression (resembling Duchenne muscular dystrophy) to milder forms with late onset and slower progression (similar to Becker muscular dystrophy). LGMD is characterized by weakness and wasting predominantly of the limb musculature (proximal greater than distal).
Factitious disorder imposed on self (also called Munchausen syndrome) was for some time the umbrella term for all such disorders. [1] Factitious disorder imposed on another (also called Munchausen syndrome by proxy, Munchausen by proxy, or factitious disorder by proxy) is a condition in which a person deliberately produces, feigns, or exaggerates the symptoms of someone in their care. ... When the individual applies this pretended sickness to a dependent, for example a child, it is often referred to as "factitious disorder by proxy". [ citation needed ] The DSM-5 differentiates among two types: Factitious disorder imposed on self (Munchausen syndrome) Factitious disorder imposed on another (Munchausen syndrome by proxy), [3] defined as: When an individual falsifies illness in another, whether that be a child, pet, or older adult. [4] Factitious disorder imposed on self [ edit ] Factitious disorder imposed on self , previously called Munchausen syndrome, or factitious disorder with predominantly physical signs and symptoms, [5] [6] has specified symptoms. ... The word " proxy " means "substitute". Ganser syndrome [ edit ] Ganser syndrome was once considered a separate factitious disorder, but is now considered a dissociative disorder . ... The patient suffers from approximation or giving absurd answers to simple questions. The syndrome is sometimes diagnosed as merely malingering—however, it is more often defined as a factitious disorder. ... The average age of those with Ganser syndrome is 32, though it stretches from ages 15–62 years old.