Presentation
In addition, an extra third bone (rather than the normal two) may be present in the thumbs and/or great toes, a condition known as “triphalangy.” [rarediseases.org]
[…] counseling. [ PMID 12189487 ] Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria. [ PMID 12872268 ] The 342-kb deletion in GJB6 is not present [snpedia.com]
Página 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. Página 188 - Dudding, BA, Gorlin, RJ, and Langer, LO: The oto-palato-digital syndrome. [books.google.es]
Some genetic mutations may be associated with clinical findings other than hearing loss, but they are not necessarily present at the time of presentation with hearing loss. [bcidaho.com]
Auris Nasus Larynx. 2013; 40 :435–9. [ PubMed : 23477838 ] Chapter Notes Author History Glenn Edward Green, MD; University of Arizona (1999-2005) Michael S Hildebrand, PhD (2010-present) A Eliot Shearer (2012-present) Richard JH Smith, MD (1999-present [ncbi.nlm.nih.gov]
Entire Body System
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Goiter
Deafness assocd w/an abnormality of the bony labyrinth (Mondini dysplasia or dilated [enlarged] vestibular aqueduct) Goiter not present at birth; develops in early puberty (40%) or adulthood (60%) Mondini dysplasia or dilated vestibular aqueduct can [ncbi.nlm.nih.gov]
SLC26A4 (50%) Goiter not present until early puberty or adulthood. [bcidaho.com]
Ears
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Hearing Impairment
Disease relevance of DFNB44 DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22 [1]. [wikigenes.org]
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]
This site lists data and links for all known gene localizations and identifications for monogenic nonsyndromic hearing impairment. For syndromic hearing impairment, only a few of the most frequent monogenic forms are covered. [hereditaryhearingloss.org]
Pollak et al. (2007) studied 233 Polish patients with hearing impairment and the GJB2 35delG mutation (121011.0005) on 1 allele. [catalog.coriell.org]
X-Linked Nonsyndromic Hearing Impairment The genes implicated in X-linked nonsyndromic hearing impairment and their clinical manifestations are summarized in Table 6. [ncbi.nlm.nih.gov]
Psychiatrical
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Suggestibility
1997, Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. [books.google.de]
We show that c.131G A is associated with a conserved haplotype in Guatemala suggesting a single founder. The majority of Mayan population lives in the west region of the country from where all c.131G A carriers originated. [miami.pure.elsevier.com]
Moreover, Kelley et al. (1998) identified the M34T allele in 3 of 192 control chromosomes, suggesting that it may be a polymorphism. [catalog.coriell.org]
Authors The Hereditary Hearing loss Homepage is maintained by Guy Van Camp, University of Antwerp [email protected] Richard Smith, University of Iowa [email protected] If you want something to be included, or if you have other comments or suggestions [hereditaryhearingloss.org]
It has also been suggested that specific mutations should prompt additional action. [bcidaho.com]
Workup
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]
Treatment
Apply the latest treatment options in pediatric care with new chapters on pediatric sleep disorders, pediatric infectious disease, and evaluation and management of the infant airway. [books.google.de]
Standard Therapies Treatment The treatment of DOOR syndrome is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]
Treatment Treatment for nonsyndromic deafness includes utilization of hearing aids as well as vibrotactile devices. For children over the age of 12 months with severe to profound hearing loss, cochlear implantation might be considered an option. [mazornet.com]
This type of hearing loss may be responsive to medical or surgical treatment. Mixed hearing loss is the result of damage to conductive pathways of the outer and/or middle ear and to the nerves or sensory hair cells of the inner ear. [asha.org]
Possible treatments include hearing aids, cochlear implants, special training, certain medicines, and surgery. [icdlist.com]
Prognosis
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]
CT, MRI, and consultation with specialists) and to inform prognosis and treatment recommendations. Figure 2. [ncbi.nlm.nih.gov]
Etiology
Deafness is influenced by both genetic and environmental factors, with inherited causes as the most prominent etiological factor in deafness in developed countries. [degruyter.com]
Guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 2014; . Accessed June, 2014. Joint Committee on Infant Hearing. [bcidaho.com]
Study of the etiology of deafness in an institutionalized population in Colombia. Am J Med Genet. 1992 Nov 1;44(4):405-8. Tamayo ML, Maldonado C, Plaza SL, Alvira GM, Tamayo GE, Zambrano M, et al. [unicolmayor.edu.co]
Prevention of Secondary Complications Regardless of its etiology, uncorrected hearing loss has consistent sequelae. [ncbi.nlm.nih.gov]
Epidemiology
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]
Epidemiology, etiology and genetic patterns. In: Gorlin RJ, Toriello HV, Cohen MM, Eds. Hereditary Hearing Loss and Its Syndromes. Oxford: Academic Press. 1995: 9-21. 2. Schrijver I. Hereditary non-syndromic sensorineural hearing loss. [degruyter.com]
Periodic surveillance is also important. [2] Epidemiology [ edit ] About 1 in 1,000 children in the United States is born with profound deafness. By age 9, about 3 in 1,000 children have hearing loss that affects the activities of daily living. [en.wikipedia.org]
Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991 ;630: 16 - 31 2. Reardon W. Genetic deafness. J Med Genet 1992 ;29: 521 - 526 3. Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE. [nejm.org]
Review and meta-analysis of the epidemiology of congenital cytomegalovirus (CMV) infection. [ncbi.nlm.nih.gov]
Prevention
[…] as early as possible to prevent irreversible sequelae. [ncbi.nlm.nih.gov]
In individuals with seizure episodes, treatment may include various medications that may help to prevent, reduce, or control seizures (anticonvulsants). [rarediseases.org]
Preventive Services Task Force Recommendations Genetic testing is not a preventive service under normal circumstances. Medicare National Coverage There is no national coverage determination (NCD). [bcidaho.com]