Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented. [ommbid.mhmedical.com]

Deafness can present as part of a syndrome, for example Usher, Pendred, Jervell and Lange-Nielsen and Waardenburg syndromes. [centogene.com]

Delivery is via cesarean delivery because of breech presentation at onset of labor. [pedsinreview.aappublications.org]

In our family, the presentation of the optic atrophy and the bilateral progressive sensorineural hearing loss is similar to the presentation of the families with autosomal dominant optic neuropathy and deafness and a mutation in OPA1. [molvis.org]

Vestibular schwannomas can present with hearing loss, particularly in individuals with NF-2. [ajnr.org]

• Short Stature

  stature and fibular hypoplasia Gay Feinmesser Cohen syndrome Lipoic acid synthetase deficiency Saito Kuba Tsuruta syndrome PARC syndrome Bone dysplasia lethal Holmgren type Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome [checkrare.com]

  stature syndrome, Deafness, autosomal dominant 28 AD/AR 12 12 GRXCR1 Deafness AR 8 9 GRXCR2 Deafness AR 1 2 HARS * Usher syndrome, Charcot-Marie-Tooth disease, axonal, type 2W AR 6 12 HARS2 Perrault syndrome AR 7 3 HGF Deafness AR 4 10 HOMER2 Deafness [blueprintgenetics.com]

  Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death. Am J Med Genet A. 2003 May 15. 119(1):32-6. [Medline]. Kaminer SJ, Hixon RL, Strong WB. [emedicine.medscape.com]

  […] pregnancy losses, stillbirths, or early infant deaths. � Persons or families affected with mental retardation, sensory deficits or learning disabilities. � Persons or families with a history of cleft lip or palate, spina bifida, congenital heart defects, short [www2.loras.edu]

• Failure to Thrive

  […] to thrive-kyphoscoliosis Auriculoosteodysplasia Aplasia cutis congenita of limbs recessive Epidermolysis bullosa simplex, Dowling-Meara type Waardenburg syndrome type 3 Antecubital pterygium Osteoporosis-pseudoglioma syndrome Hypomelanosis of Ito Porokeratosis [checkrare.com]

• Visual Impairment

  Interestingly, in our study family with visual impairment by optic neuropathy, there were no signs that the hearing impairment is caused by auditory neuropathy. [molvis.org]

• Visual Impairment

  Interestingly, in our study family with visual impairment by optic neuropathy, there were no signs that the hearing impairment is caused by auditory neuropathy. [molvis.org]

• Long Arm

  Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics 1992 ;14: 988 - 994 8. Smith RJH, Lee EC, Kimberling WJ, et al. Localization of two genes for Usher syndrome type I to chromosome 11. [nejm.org]

  Regional localisation of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia. Hum. Genet. 78: 156-160. 34 THORPE, P., SELLARS, S., AND BEIGHTON, P. (1974). [kundoc.com]

  Some individuals with Alport syndrome have loss of genetic material (microdeletion) and loss of function of several adjacent genes (contiguous gene syndrome) on the long arm of the X chromosome, which affects both the COL4A5 and COL4A6 genes. [rarediseases.org]

• Osteoporosis

  […] tibial campomelia, and oligosyndactyly syndrome Midphalangeal hair Mehes syndrome Charcot-Marie-Tooth disease Salla disease Brachydactyly type C Hypocalcemia, autosomal dominant Ehlers-Danlos syndrome, hypermobility type ALG12-CDG (CDG-Ig) Juvenile osteoporosis [checkrare.com]

• Short Arm

  arm of chromosome 1 ( Figure 2 ). [nejm.org]

• Hearing Impairment

  Introduction The Hereditary Hearing loss Homepage aims to give an up-to-date overview of the genetics of hereditary hearing impairment for researchers and clinicians working in the field. [hereditaryhearingloss.org]

  (II) The characteristics of the hearing impairments in the children studied were ho-mogeneous, regardless of the presence or absence of a connexin 26 mutation: the hearing impairment was pre-lingual bilateral sensorineural, the impairment often involved [docslide.net]

  Willems CRC Press, ١٧‏/١٠‏/٢٠٠٣ - 406 من الصفحات Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. [books.google.com]

  Percent Hearing Impairment View in own window % Impairment Pure Tone Average (dB) 1 % Residual Hearing 100% 91 dB 0% 80% 78 dB 20% 60% 65 dB 40% 30% 45 dB 70% 1. Pure tone average of 500 Hz, 1000 Hz, 2000 Hz, 3000 Hz Frequency of hearing loss. [consilieregenetica.org]

  Profound permanent hearing impairment in childhood: causative factors in two European countries. Acta Otolaryngol 1997, 117(2):158-160. Parving A. Hearing screening—aspects of epidemiology and identification of hearing impaired children. [yumpu.com]

• Tinnitus

  Tinnitus was reported by some of the affected members, but no other consistent medical or physical abnormalities were detected. [nejm.org]

  Patient III:12 referred to episodes of bilateral tinnitus. Figure 2 Audiograms showing the air conduction values obtained from six different affected subjects. Each graph point represents the average hearing loss for the right and left ears. [jmg.bmj.com]

  Up to 18% of individuals with NF-2 present before 15 years of age, and hearing loss or tinnitus is the initial symptom in 20% of children who are ultimately diagnosed with the condition. 45, 46 The hearing loss in these cases is usually progressive and [ajnr.org]

  Tinnitus was reported by 41.2%." [dizziness-and-balance.com]

For example if a KNCQ1 mutation is found, additional cardiac workup may be warranted since mutations in this gene are also associated with cardiac rhythm abnormalities. [bcidaho.com]

Clinical Testing and Workup The diagnostic approach to confirming a suspected diagnosis of Alport syndrome has been evolving over the past decade. [rarediseases.org]

Treatment Treatment Options: No information on treatment has been reported. [disorders.eyes.arizona.edu]

Standard Therapies Treatment The treatment of Alport syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Considerable strides have been made in the treatment of fungal diseases (onychomycoses) with the appearance of new therapeutic agents. [books.google.ro]

Stroke 41 (10), 2309-2315, 2010 194 2010 Substance abuse among patients with treatment-resistant schizophrenia: characteristics and implications for clozapine therapy. [scholar.google.com]

"Mid-frequency sensorineural hearing loss: aetiology and prognosis." J Laryngol Otol 119 (7): 529-33. Steel KP. A new era in the genetics of deafness. NEJM 1998 Stojkovic and others. [dizziness-and-balance.com]

Okada M, Iwasaki S, et al: The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan. Acta Otolaryngol Mar 31:1-4, 2017. [mita.iuhw.ac.jp]

Prognosis Mitral valve prolapse (MVP) is not progressive in childhood, and specific therapy is not indicated for the vast majority of patients. Progression to significant mitral regurgitation (MR) or sudden death is rare. [emedicine.medscape.com]

These factors lend credence to the theory that patients with GJB2 and GJB6 mutations may have a favorable prognosis following cochlear implantation, and that patients with other mutations or without a documented mutation may have a less favorable prognosis [bcidaho.com]

The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan. [soar-rd.shinshu-u.ac.jp]

Current physiology-based hearing screening protocol generates high false positive rate and is unable to detect early-onset hearing loss and provide a diagnosis that defines underlying etiology. [grantome.com]

Single-gene testing may be warranted in cases in which the medical or family history, or presentation of the hearing loss, suggests a specific etiology. [bcidaho.com]

It is due to seeding from the bloodstream and is most commonly viral in etiology. [ajnr.org]

Of note, there’s some debate about the molecular etiology of nonsyndromic sensorineural hearing loss in subjects with only one detectable GJB2 mutation. A minority of such cases is explained by digenic etiology of GJB2 with GJB3 or GJB6. [bredagenetics.com]

Etiologic heterogeneity and cardiac findings. Am J Dis Child. 1991 Jan. 145(1):90-3. [Medline]. Terechtchenko L, Doronina SA, Pochinok EM, Riftine A. [emedicine.medscape.com]

Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations. [books.google.com]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.es]

Hearing screening—aspects of epidemiology and identification of hearing impaired children. Int J Pediatr Otorhinolaryngol 1999, 49 (suppl 1):S287-292. [yumpu.com]

From the molecular data presently available, three main epidemiologic results emerge: (a) Mutations in the gene encoding a gap junction protein, connexin 26, account for about half of the cases of prelingual isolated deafness in Caucasian populations; [ommbid.mhmedical.com]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

Each form is introduced by a brief history of how the gene was discovered, followed by the description of its clinical features and the established or putative role of the encoded protein, as well as the current hypotheses concerning the associated pathophysiological [ommbid.mhmedical.com]

Nikolopoulos TP: Auditory dyssynchrony or auditory neuropathy: understanding the pathophysiology and exploring methods of treatment. Int J Pediatr Otorhinolaryngol 2014;78:171-173. [karger.com]

Reports of more families with hearing impairment linked to this novel locus should contribute to the identification of the responsible gene, providing insights into the auditory function and the molecular pathophysiology of age related hearing loss. [jmg.bmj.com]

Pathophysiology Mitral valve prolapse (MVP) is a heterogeneous disorder and may originate from various underlying causes affecting one or more portions of the mitral valve leaflets, chordae tendineae, papillary muscle, and/or valve annulus. [emedicine.medscape.com]

See the video Genetic Screening: The Ultimate Preventive Medicine (KCTS/Seattle, 1980). [www2.loras.edu]

[…] but not sufficient to prevent eventual hearing loss. [consilieregenetica.org]

CDC [CN] Centers for Disease Control and Prevention" [CN] DP Publication Date The date that the article was published. 2007/1/31[DP] 2001/3:2001/10[DP] 2009[DP] DTRE Date Revised The date a change was last made to a record as a result of NLM's individual [biomedsearch.com]

WHO activities for prevention of deafness and hearing impairment in children. Scand Audiol Suppl 2001, (53):93-100. [yumpu.com]

These drugs are blood pressure medications that prevent (inhibit) an enzyme in the body from producing angiotensin II. Angiotensin II is a chemical that acts to narrow blood vessels and can raise blood pressure. [rarediseases.org]