• sensorineural hear
  • Waardenburg syndrome (WS) is described as "the combination of sensorineural hearing loss, hypopigmentation of skin and hair, and pigmentary disturbances of the irides. (wikipedia.org)
  • systemic lupus erythem
  • This dissertation describes the results of a population-based case-control study of risk factors for five connective tissue diseases: systemic lupus erythematosus, Sjogren's syndrome, systemic sclerosis/CREST syndrome, polymyositis/dermatomyositis and mixed connective tissue disease.Cases were female residents of King County, Washington who were diagnosed by a rheumatologist between January 1, 1983 and December 31, 1991 as having a disease of interest. (washington.edu)
  • Using the 'pre-existing' control group, and with similar adjustment, for any CTD the odds ratio was 1.3 (95% CI: 0.4, 4.1), for systemic lupus erythematosus it was 1.6 (95% CI: 0.3, 7.3), and for Sjogren's syndrome the odds ratio was 1.8 (95% CI: 0.4, 7.8).We found little association between breast implants and the connective tissue diseases studied. (washington.edu)
  • cutaneous
  • The presence of both antibodies is found in 30-60% of Sjögren's syndrome, anti-Ro antibodies alone are found in 50-70% of Sjögren's syndrome and 30% of SLE with cutaneous involvement, and anti-La antibodies are rarely found in isolation. (wikipedia.org)
  • carpal tunnel s
  • Musculoskeletal: joint, muscle aches, loss of joint range of motion, carpal tunnel syndrome and muscle weakness. (wikipedia.org)
  • This branch of the superior cluneal nerve may become restricted in its osteofibrous tunnel against the iliac crest, just as osteofibrous tunnels affect other nerves, such as in carpal tunnel syndrome. (wikipedia.org)
  • Severe
  • A number of different treatment options have been used for severe septic cases, including intravenous antibiotics, surgical irrigation of the bursa, and bursectomy. (wikipedia.org)
  • Surgical treatment by nerve decompression is used for cases of severe pain with failure of conservative treatment. (wikipedia.org)
  • Patients of Wilson-Turner Syndrome have mental disability generally ranging from mild to severe, more frequently on the former. (wikipedia.org)
  • homozygous
  • It was initially misdiagnosed and later discovered that a homozygous mutation in the EDNRB gene causes ABCD syndrome. (wikipedia.org)
  • Researchers in the past 20 years have determined that a gene mutation, specifically a homozygous mutation in the EDNRB gene, is the cause of ABCD syndrome. (wikipedia.org)
  • A mutation in the middle of the endothelin receptor type B (EDNRB) gene causes lethal white syndrome when homozygous. (wikipedia.org)
  • In the case of LWS, a single copy of the EDNRB mutation, the heterozygous state, produces an identifiable trait, but with a very different outcome from the homozygous state. (wikipedia.org)
  • patients
  • CREST syndrome can be noted in up to 10% of patients with primary biliary cirrhosis. (wikipedia.org)
  • Pulmonary edema caused by inhaled nitric oxide therapy in two patients with pulmonary hypertension associated with the CREST syndrome. (nih.gov)
  • However, not all patients see all of the aforementioned color changes in all episodes, especially in milder cases of the condition. (wikipedia.org)
  • Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome. (semanticscholar.org)
  • Patients with ROHHAD, as well as patients with congenital central hypoventilation syndrome (CCHS) have damage to the mechanism governing proper breathing. (wikipedia.org)
  • Paired-like homeobox 2B (PHOX2B) was confirmed in 2009 as the disease-causing gene in patients with congenital central hypoventilation syndrome (CCHS), a condition present in newborns. (wikipedia.org)
  • disorders
  • A low hairline and eyebrows that meet in the middle (synophrys) Patches of white skin pigmentation, in some cases Abnormalities of the arms, associated with Type III neurologic manifestations, associated with Type IV Cleft lip, mostly associated with Type I Waardenburg syndrome has also been associated with a variety of other congenital disorders, such as intestinal and spinal defects, elevation of the scapula and cleft lip and palate. (wikipedia.org)
  • Primary
  • We report the case of a 70-year old woman with primary biliary cirrhosis, CREST syndrome and vascular gastric lesions corresponding to watermelon stomach. (uclouvain.be)
  • In MEN2A, primary hyperparathyroidism occurs in 10-50% of cases and is usually diagnosed after the third decade of life. (wikipedia.org)
  • MEN2A associates medullary thyroid carcinoma with pheochromocytoma in about 20-50% of cases and with primary hyperparathyroidism in 5-20% of cases. (wikipedia.org)
  • known
  • The neural crest, specifically a population known as the cardiac neural crest, directly contributes to the aorticopulmonary septum. (wikipedia.org)
  • Type 4 is also known as Waardenburg‐Shah syndrome (association of Waardenburg syndrome with Hirschsprung disease). (wikipedia.org)
  • Wilson-Turner Syndrome (WTS), also known as Mental Retardation X Linked Syndromic 6 (MRXS6), or Mental Retardation X Linked with Gynecomastia and Obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity. (wikipedia.org)
  • abnormalities
  • Other abnormalities (neurological, structural, Hirschsprung disease) associated with the syndrome are treated symptomatically. (wikipedia.org)
  • This intronless gene is deleted in AMME contiguous gene syndrome and is potentially involved in the cardiac and neurologic abnormalities found in the AMME contiguous gene syndrome. (wikipedia.org)
  • However, there has been reported cases where individuals had none of the mentioned facial features, which shows phenotypic abnormalities have possible environmental influences. (wikipedia.org)
  • Musculoskeletal
  • MEN2 can present with a sign or symptom related to a tumor or, in the case of multiple endocrine neoplasia type 2b, with characteristic musculoskeletal and/or lip and/or gastrointestinal findings. (wikipedia.org)
  • citation
  • citation needed] The International 22q11.2 Foundation, through its Same Name Campaign, advocates for the consistent use of 22q11.2 deletion syndrome. (wikipedia.org)
  • citation needed]MEN2B associates medullary thyroid carcinoma with pheochromocytoma in 50% of cases, with marfanoid habitus and with mucosal and digestive neurofibromatosis. (wikipedia.org)
  • autosomal
  • Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. (wikipedia.org)
  • Lethal white syndrome (LWS), also called overo lethal white syndrome (OLWS), lethal white overo (LWO), and overo lethal white foal syndrome (OLWFS), is an autosomal genetic disorder most prevalent in the American Paint Horse. (wikipedia.org)
  • genetic
  • This genetic mutation is not present though in those with late-onset central hypoventilation syndrome and hypothalamic dysfunction. (wikipedia.org)
  • The C of ABCD syndrome is what distinguishes this genetic disorder from BADS and it involves cell migration disorder of the neurocytes of the gut. (wikipedia.org)
  • Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation changes. (wikipedia.org)
  • Genetic conditions which affect more than one physical trait-in the case of lethal white syndrome, both pigment cells and enteric nerve cells-are termed pleiotropic. (wikipedia.org)
  • lethal
  • ROHHAD syndrome is a disease that is potentially lethal and incurable. (wikipedia.org)
  • Unlike some coat color dilution lethals, which may result in premature births, stillborn, or weak foals, foals born with lethal white syndrome appear to be fully formed and normal. (wikipedia.org)
  • The painful and inevitable death that follows usually prompts veterinarians and owners to euthanize foals suspected of having lethal white syndrome. (wikipedia.org)
  • A mutation in the middle of the EDNRB gene, Ile118Lys, causes lethal white syndrome. (wikipedia.org)
  • Brugada syndrome is a relatively rare but lethal ventricular arrhythmia most commonly linked to voltage-gated sodium channel gene SCN5A mutations, but also associated with some Kv channel gene sequence variants. (wikipedia.org)
  • cardiac
  • Numerous perturbations affecting the cardiac neural crest have been associated with persistent truncus arteriosus, some of which include growth factors (fibroblast growth factor 8 and bone morphogenetic protein), transcription factors (T-box, Pax, Nkx2-5, GATA-6, and Forkhead), and gap junction proteins (Connexin). (wikipedia.org)
  • The cardiac neural crest also contributes the smooth muscle of the great arteries. (wikipedia.org)
  • pathogenesis
  • The case is used to provide a literature review of the pathogenesis, diagnosis, and treatment of cerebral varicella zoster vasculopathy. (omicsonline.org)
  • Mutations in HLA genes seem to play a crucial role in the pathogenesis of some cases (but not all), likewise silica, aromatic and chlorinated solvents, ketones, trichloroethylene, welding fumes and white spirits exposure seems to contribute to the condition in a small proportion of affected persons. (wikipedia.org)
  • disorder
  • these cases occur in people with no history of the disorder in their family. (wikipedia.org)
  • Eventually, this disorder was ruled distinct from a syndrome presented by Prader and Willi (Prader-Willi syndrome) because of its mode of inheritance, gynecomastia, and presence of small hands and feet. (wikipedia.org)
  • ventricular
  • These two gene variants did not affect KCNQ1-KCNE1 currents when co-expressed in CHO cells, but produced larger currents than wild-type KCNE5 when coexpressed with Kv4.3-KChIP2, giving a possible mechanism for Brugada syndrome, i.e., increased ventricular Ito density. (wikipedia.org)
  • Clinical
  • The "black locks" described and seen in clinical pictures of the infants are thick patches of black hair above the ears that form a half circle reaching to the other ear to make a crest shape. (wikipedia.org)
  • The clinical signs include marked tenderness at iliac crest rim just above the dimple at the buttock and decreased touch sensation of the buttock just below the iliac crest. (wikipedia.org)
  • Hypocalcemia
  • 22q11.2 deletion syndrome (22q11.2DS) may be first spotted when an affected newborn has heart defects or convulsions from hypocalcemia due to malfunctioning parathyroid glands and low levels of parathyroid hormone (parathormone). (wikipedia.org)
  • mutations
  • A study was done on a rare case of a double heterozygous child with each parent having only single mutations in MITF or PAX3. (wikipedia.org)
  • A minority of cases are linked to ion channel gene mutations, whereas the majority are associated with structural heart defects. (wikipedia.org)
  • Some cases, however, result from spontaneous new mutations in the RET gene. (wikipedia.org)
  • In MEN2B, for example, about half of all cases arise as spontaneous new mutations. (wikipedia.org)
  • include
  • Medications for treatment of cases that do not improve include calcium channel blockers and iloprost. (wikipedia.org)
  • Therapies include immunosuppressive drugs and, in some cases, glucocorticoids. (wikipedia.org)
  • Some of the facial features that are associated with Wilson-Turner Syndrome include small head circumference, high forehead, prominent ears, and nose with a flattened bridge. (wikipedia.org)
  • nerve
  • As the name suggests, the stem cells of the neural crest are precursors to nerve cells. (wikipedia.org)
  • Superior Cluneal Nerve Entrapment The medial branch of the superior cluneal nerve passes over the iliac crest through a tunnel formed by the thoracolumbar fascia and the superior rim of the iliac crest. (wikipedia.org)
  • hypoventilation
  • Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD syndrome) is a very rare disease affecting approximately 75 people worldwide. (wikipedia.org)
  • concurrent
  • Mailed questionnaires were used for concurrent data collection on the cases and on the 'new' control group, with a telephone administered questionnaire for non-respondents. (washington.edu)
  • obesity
  • Individuals with Wilson-Turner Syndrome are characterized to have truncal obesity, meaning the fat has accumulated in one's middle. (wikipedia.org)
  • diagnosis
  • The 'new' control group was identified by random digit telephone dialing and was frequency matched to the case group on age at diagnosis and calendar year of diagnosis. (washington.edu)