Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies.
Two kindreds have been described (Escher and Hirt, 1968; Wilmot, 1970). The abnormality of the external ear is a minor one and was missing in some persons judged to be affected because of deafness. The moderately severe conductive deafness differs from otosclerosis in being congenital and apparently nonprogressive. Exploration of the middle ear showed curvature of the long crus of the incus and absence of the head of the stapes with a fibrous band connecting the two bones. Schweitzer et al. (1984) described the combination of conductive hearing loss due to middle ear ossicular anomalies, thickened bilateral 'lop' or 'cup' auricles (128600), and micrognathia.
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome on chromosome Xp21. Description Infantile or complex glycerol kinase deficiency is a contiguous gene syndrome caused by microdeletion of GK (300474) and its neighboring genes, dystrophin (300377), which causes Duchenne muscular dystrophy (DMD; 310200), and NR0B1 (300473), which causes congenital adrenal hypoplasia (AHC; 300200). ... The authors thought that the other boy probably had an undetected deletion. The authors suggested that the syndrome is likely due to deletion of several closely linked genes, comparable to the cause of the WAGR syndrome (194070) on 11p and perhaps the Langer-Giedion syndrome (150230) on chromosome 8 and other 'contiguous gene' syndromes (Schmickel, 1986). ... The hypogonadism was of the hypogonadotropic type. Kallmann syndrome (308700), a form of hypogonadotropic hypogonadism, maps to the distal portion of Xp. ... In cases with the GKD/adrenal hypoplasia microdeletion syndrome without myopathy, no deletion was found in the dystrophin gene. Matsumoto et al. (1988) described 5 unrelated Japanese males and reviewed 20 previously reported patients (1 of them female) with a contiguous gene syndrome including GK deficiency. They pointed out that at least 6 of the 25 patients were known to have had gonadotropin deficiency and/or cryptorchidism, and suggested that a gene responsible for gonadotropin deficiency (GTD; 306190) is located in the Xp21 region and is situated in the following linear order: Xpter--GTD--AHC--GK--DMD--OTC--Xcen.
A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism.
An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections.
Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with short stature, vitiligo , muscle wasting and achalasia (swallowing difficulties).
A number sign (#) is used with this entry because of evidence that Joubert syndrome-13 (JBTS13) is caused by homozygous or compound heterozygous mutation in the TCTN1 gene (609863) on chromosome 12q24. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Garcia-Gonzalo et al. (2011) reported 2 sisters, born of consanguineous Bangladeshi parents, with Joubert syndrome. Brain MRI showed cerebellar vermis hypoplasia and the molar tooth sign, the characteristic radiographic feature of Joubert syndrome. One girl also had bilateral frontotemporal pachygyria.
A number sign (#) is used with this entry because of evidence that Meier-Gorlin syndrome-8 (MGORS8) is caused by compound heterozygous mutation in the MCM5 gene (602696) on chromosome 22q12. ... For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690. Clinical Features Vetro et al. (2017) studied a 4.75-year-old Italian boy who exhibited intrauterine and postnatal growth restriction, as well as dysmorphic features including microstomia, thick lips, micrognathia, and bilateral low-set small ears. ... Bilateral absence of the ossification centers of the patella was noted at age 20 months, at which time a clinical diagnosis of Meier-Gorlin syndrome was made. At 4.75 years of age, his height and weight were -2.7 SD and -2.5 SD, respectively, and his head circumference was 51 cm (0.3 SD). Molecular Genetics By whole-exome sequencing in a 4.75-year-old Italian boy with Meier-Gorlin syndrome, Vetro et al. (2017) excluded mutation in known MGORS-associated genes and identified compound heterozygosity for a 2-bp deletion (602696.0001) and a missense mutation (602696.0002) in the MCM5 gene.
An autoimmune disease Scleromyositis Other names PM/Scl overlap syndrome Scleromyositis , is an autoimmune disease (a disease in which the immune system attacks the body). People with scleromyositis have symptoms of both systemic scleroderma and either polymyositis or dermatomyositis , and is therefore considered an overlap syndrome . Although it is a rare disease, it is one of the more common overlap syndromes seen in scleroderma patients, together with MCTD and Antisynthetase syndrome . ... Blood studies and numerous other specialized tests depending upon which organs are affected. Scleroderma overlap syndrome [ edit ] People with scleroderma overlap syndrome have symptoms of both systemic scleroderma and/or polymyositis and dermatomyositis : Scleroderma : a group of rare diseases that involve the hardening and tightening of the skin and connective tissues. ... "Scleroderma overlap syndromes". Adv Exp Med Biol . Advances in Experimental Medicine and Biology. 455 : 85–92. doi : 10.1007/978-1-4615-4857-7_12 . ... "Scleromyositis: a scleroderma/polymyositis overlap syndrome". Clinical Rheumatology . 17 (6): 465–7. doi : 10.1007/BF01451281 .
Foodborne illness Toxic oil syndrome Plaque to the victims of the Toxic Oil Syndrome Specialty Rheumatology Toxic oil syndrome or simply toxic syndrome ( Spanish : síndrome del aceite tóxico or síndrome tóxico ) is a musculoskeletal disease . ... Contents 1 Cause 2 Alternative mechanisms 3 See also 4 References 5 External links Cause [ edit ] The cause of the syndrome was traced to the consumption of colza oil that had been intended for industrial rather than food use. [1] To discourage human consumption, the oil was denatured by the addition of aniline to make it smell and taste bad. ... The commonly accepted hypothesis states that toxic compounds derived during the refinement process were responsible. [ citation needed ] Once the origin of the syndrome was realised, public health officials organized an exchange programme, whereby those who had bought the oil could exchange it for pure olive oil, thereby quickly ending the outbreak. [ citation needed ] Alternative mechanisms [ edit ] The conclusion of the Joint WHO/CISAT Scientific Committee for the Toxic Oil Syndrome from 2002, that oil was the cause for TOS, is based only on epidemiological evidence, since up to now, experimental studies performed in a variety of laboratory animals have failed to reproduce the symptoms of human TOS. [2] None of the in vivo or in vitro studies performed with toxic-oil-specific components, such as fatty acid anilides , and esters of 3-(N-phenylamino)-1,2-propanediol (abbreviated as PAP), have provided evidence that these markers are causally involved in the pathogenesis of TOS. [2] Specifically, three possible causative agents of TOS are PAP (3-(N-phenylamino)-1,2-propanediol), the 1,2-dioleoyl ester of PAP (abbreviated OOPAP), and the 3-oleoyl ester of PAP (abbreviated OPAP). ... Another theory suggests the toxic reaction was triggered by organophosphate poisoning (e. g., from pesticide residues in tomatoes of a new product being field tested by BASF ) and covered up by the Spanish government and the WHO . [3] See also Eosinophilia-myalgia syndrome Health crisis List of food contamination incidents Ginger Jake The Jungle References [ edit ] ^ "A Long Trial in Spain on Fatal Tainted Food" . ... August 2, 1987. ^ a b c d e f g Toxic Oil Syndrome - 10 Years of Progress ^ Woffinden, Bob (August 25, 2001).
Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates. ... Differential diagnoses for the chronic phase of TOS include several autoimmune rare diseases such as idiopathic pulmonary arterial hypertension, scleroderma (see these terms) and inflammatory polyneuropathy. Myalgia-eosinophilia syndrome associated with tryptophan (see this term) is another differential diagnosis that should be considered.
Picture of lentigines associated with Carney Complex PPNAD is a rare cause of high cortisol levels in the blood and often manifests as ACTH-independent Cushing's syndrome. [2] [3] The effects of PPNAD can often be cyclical so the symptoms of Cushing's syndrome will not always be as severe, which may complicate diagnosis. [4] The classic symptoms of Cushing's syndrome include rapid central weight gain, a puffy red face and a buffalo hump at the back of the neck due to fat deposits. Skin changes in Cushing's syndrome include thinning and bruising easily, developing striae and hyperpigmentation at skin folds. ... Measuring ACTH will confirm that the cause of the patients Cushing's syndrome is ACTH independent. The nature of Cushing's syndrome itself is periodic, which can make diagnosing PPNAD increasingly difficult. [12] Diagnosis of PPNAD can be difficult to determine preoperatively as CT scan findings can be variable i.e. appear normal or suggest unilateral adrenal lesions therefore impeding the correct diagnosis. ... "Primary adrenocortical nodular dysplasia, a distinct subtype of cushing's syndrome. Case report and review of the literature". ... "Hormonal, Radiological, NP-59 Scintigraphy, and Pathological Correlations in Patients with Cushing's Syndrome Due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD)" .
Description Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1; 160980), a multiple neoplasia syndrome. ... Both had clinical features of adrenal Cushing syndrome, including hypertension, increased serum cortisol, and decreased serum ACTH. Shenoy et al. (1984) reported 4 patients, aged 12 to 21 years, with Cushing syndrome due to autonomously functioning bilateral adrenocortical neoplasms. ... Teding van Berkhout et al. (1989) described Cushing syndrome due to pigmented nodular adrenocortical dysplasia in 2 sisters. ... No evidence of associated disorders suggesting Carney syndrome was found in the 2 sisters or their first-degree relatives.
Sézary disease Other names Sézary's disease, Sézary('s) syndrome The bright red rash of Sezary syndrome Pronunciation / ˌ s eɪ ˌ z ɑː ˈ r iː / Specialty Oncology , dermatology Sézary disease , or Sézary syndrome [1] is a type of cutaneous T-cell lymphoma that was first described by Albert Sézary . [2] The affected T-cells known as Sézary's cells , and also as Lutzner cells , have pathological quantities of mucopolysaccharides . ... "Sézary syndrome" . Genetics Home Reference . ^ Sézary's cell at Who Named It? ... ISBN 978-3-319-14728-4 . ^ "Sezary syndrome" . genetic and rare diseases information center . ... PMID 28096719 . ^ a b Lorincz, A. I. "Sezary syndrome" . Retrieved 2008-02-15 . ^ Fragkos, Konstantinos C. (2017). "Plantar keratoderma of Sézary syndrome" . Clinical Case Reports . 5 (10): 1726–1727. doi : 10.1002/ccr3.1168 .
Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).
Sezary syndrome is an aggressive form of cutaneous T-cell lymphoma which is a group of disorders that occur when T-cells (a type of white blood cell) become cancerous and affect the skin. ... Other signs and symptoms may include intense itchiness, scaling and peeling of the skin; fever; weight loss; hair loss; outward turning of the eyelids (ectropion); palmoplantar keratoderma ; malformation of the nails; and hepatosplenomegaly. The exact cause of Sezary syndrome is currently unknown. Treatment varies based on the signs and symptoms present in each person and the severity of the condition.
Schneider, [14] and the term second-impact syndrome was coined in 1984. [1] In 1984, R.L. ... "Repetitive head injury syndrome" . eMedicine.com . Retrieved 2007-12-16 . ^ a b c d e f Cantu RC (1998). ... Sports concussions and second impact syndrome . University of Virginia health system. ... "The Controversial Second Impact Syndrome: A Review of the Literature" . ... PMID 11495318 . v t e Neurotrauma Traumatic brain injury Intracranial hemorrhage Intra-axial Intraparenchymal hemorrhage Intraventricular hemorrhage Extra-axial Subdural hematoma Epidural hematoma Subarachnoid hemorrhage Brain herniation Cerebral contusion Cerebral laceration Concussion Post-concussion syndrome Second-impact syndrome Dementia pugilistica Chronic traumatic encephalopathy Diffuse axonal injury Abusive head trauma Penetrating head injury Spinal cord injury Anterior spinal artery syndrome Brown-Séquard syndrome Cauda equina syndrome Central cord syndrome Paraplegia Posterior cord syndrome Spinal cord injury without radiographic abnormality Tetraplegia (Quadriplegia) Peripheral nerves Nerve injury Peripheral nerve injury classification Wallerian degeneration Injury of accessory nerve Brachial plexus injury Traumatic neuroma
A number sign (#) is used with this entry because of evidence that the cardiac valvular type of Ehlers-Danlos syndrome (EDSCV) is caused by homozygous or compound heterozygous mutation in the COL1A2 gene (120160) on chromosome 7q21. For discussion of genetic heterogeneity of Ehlers-Danlos syndrome, see 130000. Clinical Features Shohet et al. (1987) reported 2 unrelated patients, aged 10 and 11 years, who had minor signs of Ehlers-Danlos syndrome but severe changes in the aorta requiring surgical repair with fatal complications in 1 patient. ... Schwarze et al. (2004) described 3 unrelated patients with a rare, recessively inherited form of Ehlers-Danlos syndrome characterized by joint hypermobility, skin hyperextensibility, and cardiac valvular defects.
A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.
A number sign (#) is used with this entry because of evidence that contractures, pterygia, and variable skeletal fusions syndrome-1A (CPSKF1A) is caused by heterozygous mutation in the MYH3 gene (160720) on chromosome 17p13. ... Clinical Features McKeown and Harris (1988) described a multiple pterygium syndrome in 3 children and their mother. ... The most severely affected case closely resembled the autosomal recessive Escobar variant of multiple pterygium syndrome (EVMPS; 265000). The authors speculated that some isolated cases may in fact represent this dominant disorder. ... Isidor et al. (2008) reported a 30-year-old French mother and her 9-year-old son with a clinical diagnosis of spondylocarpotarsal synostosis syndrome (SCT; 272460). Both exhibited short stature, progressive scoliosis, hearing loss, cleft palate, and short neck. ... The authors stated that this was the first report of a typical Sheldon-Hall syndrome phenotype accompanied by vertebral and carpal fusions.
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.
A number sign (#) is used with this entry because of evidence that Weill-Marchesani syndrome-4 (WMS4) is caused by homozygous mutation in the ADAMTS17 gene (607511) on chromosome 15q26. Description Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. ... For a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 (277600). Clinical Features Morales et al. (2009) described 8 individuals, 6 from 2 Saudi Arabian families and 2 sporadic cases, who displayed many of the key features of Weill-Marchesani syndrome, including lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. ... Mapping Morales et al. (2009) performed linkage analysis in a consanguineous Saudi Arabian family with a Weill-Marchesani-like syndrome and obtained a maximum lod score of 3.0 on chromosome 15q26.3, in a 2.05-Mb linkage region. ... Inheritance Weill-Marchesani syndrome-4 is an autosomal recessive disorder (Morales et al., 2009).
Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.
A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia.
Clinical Features Reardon et al. (1993) reported a brother and sister, the offspring of second-cousin Pakistani parents, with an apparently new form of mesomelic limb shortening and bowing with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly. The sister died a few hours after birth from cardiorespiratory arrest and the brother was alive at age 4 years. Radiologic findings were incompatible with the diagnosis of campomelic dysplasia (114290). Differences from Langer mesomelic dysplasia (249700) were also noted.