The presentation of basic science underlying clinical otorhinolaryngology has been expanded, and molecular mechanisms and genetics of disease are presented. [books.google.com]

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

On the other hand, a negative result substantially reduces the likelihood that a syndrome is present, alleviating concerns about the future development of these features. [personalizedmedicine.partners.org]

Deafness, autosomal dominant, 23 (DFNA23) [MIM:605192]: A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients. [genecards.org]

Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual. [ipfs.io]

• Short Stature

  The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser. 1975;11: 7–18. [reseau-maladies-rares.fr]

  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, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) [MIM: 614813 ] POF1B Q8WVV4 non-pleiotropic Premature ovarian failure 2B (POF2B) [MIM: 300604 ] POLD1 P28340 non-pleiotropic Colorectal cancer 10 (CRCS10) [MIM: 612591 ] POLE Q07864 [sbg.bio.ic.ac.uk]

  stature syndrome, Deafness, autosomal dominant 28 AD/AR 12 12 GRXCR1 Deafness AR 8 9 GRXCR2 Deafness AR 1 2 HGF Deafness AR 4 10 HOMER2 Deafness AD 2 1 ILDR1 Deafness AR 8 27 KARS Charcot-Marie-Tooth disease AR 9 23 KCNQ4 Deafness AD 28 37 LHFPL5 Deafness [blueprintgenetics.com]

  Bardet-Biedl syndrome 11 615988 602290 Autosomal recessive TRIM32 9q33.1 Muscular dystrophy, limb-girdle, type 2H 254110 602290 Autosomal recessive TRIM37 17q22 Mulibrey nanism 253250 605073 Autosomal recessive TRMT10A 4q23 Microcephaly, short stature [mnglabs.com]

• Anemia

  1 105650 RPS19 ribosomal protein S19 Diamond-Blackfan anemia 10 613309 RPS26 ribosomal protein S26 Diamond-blackfan anemia 3 610629 RPS24 ribosomal protein S24 Diamond-Blackfan anemia 5 612528 RPL35A ribosomal protein L35a Diamond-Blackfan anemia 7 612562 [acgen.es]

  Optic atrophy, retinitispigmentosa, ptosis, cataract, ophthalmoplegia LIVER Hepatocellular insufficiency, liver failure, liver enlargement DIGESTIVE TRACT Diarrhea, vomiting, villous atrophy SKIN Abnormal pigmentation EAR Deafness BLOOD Sideroblastic anemia [docplayer.net]

  Perrault syndrome 2 614926 600783 Autosomal recessive HBB 11p15.4 Delta-beta thalassemia 141749 141900 Autosomal dominant HBB 11p15.4 Heinz body anemias, beta- 140700 141900 Autosomal dominant HBB 11p15.4 Sickle cell anemia 603903 141900 Autosomal recessive [mnglabs.com]

  Adrenomyodystrophy Orofaciodigital syndrome 3 Stiff person syndrome Myoclonus-dystonia Sialuria, French type Hartnup disease Toriello-Carey syndrome Thompson Baraitser syndrome Periodic fever, aphthous stomatitis, pharyngitis and adenitis Sickle cell anemia [checkrare.com]

• Lymphedema

  Exstrophy of the bladder Familial hemiplegic migraine type 2 Spondyloepimetaphyseal dysplasia with hypotrichosis Maxillonasal dysplasia, Binder type Osteopetrosis Albinism ocular late onset sensorineural deafness Gastroschisis Lipedema Hypotrichosis-lymphedema-telangiectasia [checkrare.com]

  GJB2/GJB6 220290 604418 Autosomal recessive; Digenic dominant GJB6 13q12.11 Ectodermal dysplasia 2, Clouston type 129500 604418 Autosomal dominant GJC2 1q42.13 Spastic paraplegia 44, autosomal recessive 613206 608803 Autosomal recessive GJC2 1q42.13 Lymphedema [mnglabs.com]

• Tall Stature

  […] combined immunodeficiency Atkin syndrome Pitt-Hopkins-like syndrome Lubinsky syndrome Bamforth syndrome Limb-girdle muscular dystrophy type 2H Parastremmatic dwarfism Brachydactyly type A7 Al Gazali Aziz Salem syndrome Protein C deficiency Camptodactyly, tall [checkrare.com]

• Pneumonia

  […] results from prenatal infections from “TORCH” organisms (i.e., toxoplasmosis, rubella, cytomegalic virus, and herpes), or postnatal infections, particularly bacterial meningitis caused by Neisseria meningitidis, Haemophilus influenzae, Streptococcus pneumoniae [bredagenetics.com]

• 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]

• Hepatomegaly

  […] ataxia,strabismus, ptosis, psychomotor retardation ND1 ND3 ND5 ND6 Leigh syndrome Leigh syndrome Leigh syndrome Leigh syndrome vomiting, hypotonia, lethargy apnea NDUFV2 hypertrophic cardiomyopathy, encephalopathy NDUFS1 growth retardation, hypotonia hepatomegaly [docplayer.net]

• Hypertension

  […] dysplasia x-linked with mental deterioration Limb-girdle muscular dystrophy Palmoplantar keratoderma-sclerodactyly syndrome Limb-body wall complex Lopes Gorlin syndrome Currarino triad Spondylometaphyseal dysplasia with cone-rod dystrophy Brachydactyly with hypertension [checkrare.com]

• Heart Disease

  […] polydactyly heart disease Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis Refsum disease Spastic paraplegia 25 Camptodactyly-ichthyosis syndrome BRCA1 hereditary breast and ovarian cancer syndrome Multicentric [checkrare.com]

  Neuropathy, hereditary sensory and autonomic, type VI 614653 113810 Autosomal recessive DTNA 18q12.1 Left ventricular noncompaction 1, with or without congenital heart defects 604169 601239 Autosomal dominant DYM 18q21.1 Dyggve-Melchior-Clausen disease [mnglabs.com]

• 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]

  impairment 32 frequent (33%) HP:0000405 3 sensorineural hearing impairment 32 HP:0000407 4 preauricular pit 32 occasional (7.5%) HP:0004467 MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 23: 46 # Description MGI Source Accession Score Top [malacards.org]

  Hearing Loss Testing Requisition Form Hearing impairment is the most frequent sensory deficit in humans. It affects 1 in 500 newborns and 50% of octogenarians and in aggregate affects 360 million people worldwide. [morl.lab.uiowa.edu]

  For PTA, the levels of hearing loss are described as follows: ~20 dB is assigned as normal hearing; 21–40 dB as mild hearing impairment; 41–70 dB as moderate hearing impairment; 71–95 dB as severe hearing impairment; and >95 dB as profound hearing impairment [bmcmedgenet.biomedcentral.com]

  Non-syndromal sensorineural hearing impairment in humans is genetically heterogeneous showing autosomal recessive, autosomal dominant, X-linked or mitochondrial modes of transmission. DFNB9 is caused by mutations in the OTOF gene. [cags.org.ae]

• Arthritis

  […] disease Stalker Chitayat syndrome DPM1-CDG (CDG-Ie) Retinopathy pigmentary mental retardation Hawkinsinuria Deafness onychodystrophy osteodystrophy and mental retardation syndrome Dyskeratosis congenita autosomal recessive Sneddon syndrome Pyogenic arthritis [checkrare.com]

  Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency 614736 607878 Autosomal recessive NOD2 16q12.1 Blau syndrome 186580 605956 Autosomal dominant NOD2 16q12.1 {Yao syndrome} 617321 605956 Multifactorial NOD2 16q12.1 {Psoriatic arthritis [mnglabs.com]

[…] fellows wishing to train in the specialty, given that the current standard of training requires knowledge in laryngotracheal reconstruction, congenital airway anomalies, or-facial anomalies, speech and voice disorders, head and neck, and diagnosis and treatment [books.google.com]

Treatment - Deafness- autosomal dominant nonsyndromic sensorineural 23 Not supplied. Resources - Deafness- autosomal dominant nonsyndromic sensorineural 23 Not supplied. [checkorphan.org]

Congenitally deaf patients for understanding the cause of their hearing loss and determining appropriate interventions/treatments Family members of congenital deaf persons to determine whether they are carriers of hearing loss mutation(s) Patients with [otogenetics.com]

You can help by adding to it. ( December 2017 ) Treatment [ edit ] Treatment is supportive and consists of management of manifestations. User of hearing aids and/or cochlear implant, suitable educational programs can be offered. [en.wikipedia.org]

Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition. [varsome.com]

Prognosis - Deafness- autosomal dominant nonsyndromic sensorineural 23 Not supplied. Treatment - Deafness- autosomal dominant nonsyndromic sensorineural 23 Not supplied. [checkorphan.org]

Determining the etiology of hearing loss is important in determining prognosis (e.g. whether the severity of hearing impairment will worsen), optimal therapeutic interventions (e.g. hearing aids, cochlear implant, sign language) and recurrence risks to [personalizedmedicine.partners.org]

Background Hearing loss has an incidence of 1 in 250 births and over half of isolated childhood hearing loss has a genetic etiology, with many genes involved. [personalizedmedicine.partners.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]

Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. [genome.jp]

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement. Genet Med. 2002;4(3):162–71. [bmcmedgenet.biomedcentral.com]

For the patients with residual hearing, newly developed cochlear implantation; EAS (Electric Acoustic Stimulation) is a good therapeutic option and therefore much attention should be paid to the etiology when considering individual intervention, i.e., [journals.plos.org]

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]

Relevant External Links for SIX1 Human Genome Epidemiology (HuGE) Navigator SIX1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SIX1 No data available for Genatlas for SIX1 Gene SIX1 mutations cause branchio-oto-renal syndrome by disruption [genecards.org]

Epidemiology 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. [ipfs.io]

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]

The Global Epidemiology of Hereditary Ataxiaand Spastic Paraplegia: A systematic review of prevalence studies. Neuroepidemiology 2014; 24:174-183. Ashizawa T, Figueroa KP, Perlman SL, et al. [rarediseases.org]

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]

Prevention - Deafness- autosomal dominant nonsyndromic sensorineural 23 Not supplied. [checkorphan.org]

Prevention of deafness for patients carrying ototoxic antibiotic sensitive gene variants Pre-onset intervention of life-threatening or blindness for patients carrying gene variants in syndromic deafness, such as Jervell and Lange-Nielsen (hearing impairment [otogenetics.com]