Profound Congenital Hearing Loss: Causes & Reasons

Possible Causes for Profound Congenital Hearing Loss

Cochlear implants, unilateral or bilateral, are now more frequently used for patients with profound congenital hearing loss. [orpha.net]

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa [ncbi.nlm.nih.gov]

The disorder is divided into three clinical types: type I (USH1) characterised by profound congenital hearing loss, absent vestibular function and onset of RP usually within [jmg.bmj.com]

Usher Syndrome Type 1G

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa [ncbi.nlm.nih.gov]

Genes involved in Type I Usher syndrome type I is the most severe form of Usher syndrome and is characterized by congenital, profound, sensorineural hearing loss; vestibular [usher-syndrome.org]

Genes involved in Type 1 Usher syndrome type I is the most severe form of Usher syndrome and is characterized by congenital, profound, sensorineural hearing loss; vestibular [noisyvision.org]

Usher Syndrome Type 1

PURPOSE: Patients with Usher syndrome type I (USH1) have retinitis pigmentosa, profound congenital hearing loss, and vestibular ataxia. [ncbi.nlm.nih.gov]

Date Published: 2014 Dec Abstract: PURPOSE: Patients with Usher syndrome type I (USH1) have retinitis pigmentosa, profound congenital hearing loss, and vestibular ataxia. [eye.hms.harvard.edu]

Usher syndrome type I (USH1) is characterised by profound congenital sensorineural hearing loss, vestibular dysfunction, and prepubertal onset of retinitis pigmentosa. [ncbi.nlm.nih.gov]

Usher Syndrome Type 1K

Cochlear implants, unilateral or bilateral, are now more frequently used for patients with profound congenital hearing loss. [orpha.net]

Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. [ncbi.nlm.nih.gov]

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa [ncbi.nlm.nih.gov]

Usher Syndrome Type 1J

Cochlear implants, unilateral or bilateral, are now more frequently used for patients with profound congenital hearing loss. [orpha.net]

There are three types of the syndrome: type I is characterised by profound congenital hearing loss, poor balance and RP usually around the age of ten years type II presents [contact.org.uk]

Type 1 is associated with profound congenital sensorineural hearing loss and poor vestibular function, most commonly caused by mutation in the MYO7A gene. [webeye.ophth.uiowa.edu]

Usher Syndrome

Loss of function variants in the PCDH15 gene can cause Usher syndrome type 1F, an autosomal recessive disease associated with profound congenital hearing loss, vestibular [ncbi.nlm.nih.gov]

Usher syndrome type I (USH1) is characterized by severe to profound congenital hearing loss, RP and vestibular areflexia. [asperbio.com]

Usher Syndrome Type 1H

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa [ncbi.nlm.nih.gov]

Congenital Deafness

The prevalence of permanent childhood hearing loss is 1.2 to 1.7 per 1000 live births in the United States. 20-30% of children with congenital SNHL have profound hearing loss [medicine.uiowa.edu]

loss and the characteristics of the studied population. 37 The prevalence of congenital hearing loss also depends on race, birth weight, and other risk factors. 38 Profound [wvdhhr.org]

It is estimated that between a quarter and half of all severe to profound hearing losses are due to hereditary/genetic causes and many fall into the congenital category. [hiddenhearing.co.uk]

Tietz Syndrome

From Wikidata Jump to navigation Jump to search monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like [wikidata.org]

Hearing loss is always bilateral, congenital, sensorineural and profound. Psychomotor development is normal. [orpha.net]

profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has material basis in mutation in the MITF gene on [wikidata.org]

Michel Aplasia

Case 1: 9-year-old girl with profound bilateral congenital sensorineural hearing loss. [pubmed.ncbi.nlm.nih.gov]

Case 2: 16-year-old boy, brother of girl in case 1, also with profound bilateral congenital sensorineural hearing loss. [pubmed.ncbi.nlm.nih.gov]

Chudley-McCullough Syndrome

congenital sensorineural hearing loss. [iths.pure.elsevier.com]

Mutations in GPSM2 have been previously identified in people with profound congenital nonsyndromic hearing loss (NSHL). [bcgsc.ca]

Chudley-McCullough syndrome (CMS) is an autosomal-recessive disorder characterized by a complex brain malformation and profound congenital sensorineural hearing loss. [ncbi.nlm.nih.gov]

Autosomal Recessive Deafness 24

Most of the patients showed severe-to-profound congenital hearing loss on pure-tone audiography and evoked auditory brainstem response evaluation. [indianjotol.org]

Typically, the hearing loss is profound and prelingual. [scinapse.io]

Medical histories indicated that all four Pakistani families segregate congenital, profound, non-syndromic sensorineural hearing loss. [bmcmedgenet.biomedcentral.com]

Ocular Albinism with Congenital Sensorineural Deafness

[…] deafness is a rare, genetic, oculocutaneous disorder characterized by profound, congenital, sensorineural hearing loss in association with moderate to severe hypopigmentation [orpha.net]

Cardinal features ... are a thyroid goiter and profound congenital sensorineural hearing loss ... Hlaf-hypothyroid, half-euthyroid ... [ibis-birthdefects.org]

Homepage Rare diseases Search Search for a rare disease Ocular albinism with congenital sensorineural deafness Disease definition Ocular albinism with congenital sensorineural [orpha.net]

Pagon Stephan Syndrome

It is characterized by profound congenital hearing loss, RP, and absent vestibular function. Usher Syndrome Type II is less severe. [eyewiki.aao.org]

Metaphyseal Chondrodysplasia - Retinitis pigmentosa Syndrome

Cochlear implants, unilateral or bilateral, are now more frequently used for patients with profound congenital hearing loss. [orpha.net]

Three clinical entities have been defined: type 1 (around 40% of cases), in which hearing loss is congenital, profound, nonprogressive, and typically associated with vestibular [orpha.net]

Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with [orpha.net]

Jervell-Lange-Nielsen Syndrome Type 2

In addition to congenital profound hearing loss in all subjects, two sibling subjects showed typical JLNS cardiac phenotype of prolonged QTc and recurrent syncopal episodes [ncbi.nlm.nih.gov]

OBJECTIVE AND IMPORTANCE: Jervell and Lange-Nielsen (JLN) syndrome is a rare cause of congenital profound hearing loss associated with a prolonged QT interval on the electrocardiogram [ncbi.nlm.nih.gov]

It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an [ncbi.nlm.nih.gov]

Usher Syndrome Type 1E

Jervell-Lange-Nielsen Syndrome Type 1

profound bilateral sensorineural hearing loss and prolonged QT interval with ventricular tachyarrhythmias. [asperbio.com]

It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an [jmedicalcasereports.biomedcentral.com]

[…] bilateral congenital sensorineural deafness.[50][51] Hearing Loss Severity Hearing Threshold Mild hearing loss 26-40 Decibels Moderate hearing loss 41-55 Decibels Moderately [wikidoc.org]

Focal Labyrinthitis

This is particularly important to evaluate in children with bilateral profound congenital hearing loss. [pubs.rsna.org]

Usher Syndrome Type 1C

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa [ncbi.nlm.nih.gov]

Familial Progressive Vestibulocochlear Dysfunction

Sensorineural hearing loss is usually congenital, severe to profound and non-progressive. However, hearing loss may be later onset and progressive in some patients. [asperbio.com]

Hearing loss. In Type I Usher syndrome, most patients have congenital, profound sensorineural hearing loss at birth. [audiologyonline.com]

Over 50% will present with congenital, severe to profound SNHL. Hearing loss can be fluctuating and is progressive in 15%–20% of the cases. [asha.org]

Usher Syndrome Type 3B

Cochlear implants, unilateral or bilateral, are now more frequently used for patients with profound congenital hearing loss. [orpha.net]

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa [ncbi.nlm.nih.gov]

Hearing loss. In Type I Usher syndrome, most patients have congenital, profound sensorineural hearing loss at birth. [audiologyonline.com]

High Myopia-Sensorineural Deafness Syndrome

loss [ edit ] Syndromic Hearing loss [ edit ] (Accounts for 30% prelingual deafness) Autosomal Recessive Usher Syndrome Congenital sensorineural hearing loss Type 1 Severe [en.wikibooks.org]

Three main types of Usher syndrome are described, as follows: Type I is characterized by congenital severe-profound hearing loss and vestibular dysfunction. [emedicine.medscape.com]

Sex-Linked Disorders X-linked inheritance is rare Accounts for only 1% to 2% of cases of hereditary hearing loss May constitute about 6% of nonsyndromic profound losses in [slideshare.net]

Autosomal Recessive Deafness 22

Typically, the hearing loss is profound and prelingual. [scinapse.io]

The onset of this type was congenital ranging from severe to profound hearing loss. [mybiosource.com]

Usher Syndrome Type 1F

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa [ncbi.nlm.nih.gov]

profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function. [ltd.aruplab.com]

Usher syndrome type 1 is characterized by profound hearing loss in both ears at birth (congenital deafness) and balance problems. [rarediseases.org]

X-Linked Non-Syndromic Sensorineural Deafness Type DFN

Here, we report a Chinese family affected by a congenital profound sensorineural hearing loss. [link.springer.com]

Three main types of Usher syndrome are described, as follows: Type I is characterized by congenital severe-profound hearing loss and vestibular dysfunction. [emedicine.medscape.com]

A typical clinical presentation of autosomal recessive NSHL involves the following characteristics: Sensorineural hearing loss Mild to profound (more commonly) degree of hearing [bcidaho.com]

Bart-Pumphrey Syndrome

The hearing loss associated with Bart-Pumphrey syndrome ranges from moderate to profound and is typically present from birth (congenital). [rarediseases.oscar.ncsu.edu]

The signs and symptoms of this disorder may vary even within the same family; while almost all affected individuals have hearing loss, they may have different combinations [rarediseases.oscar.ncsu.edu]

Jervell-Lange-Nielsen Syndrome

profound bilateral sensorineural hearing loss and prolonged QT interval with ventricular tachyarrhythmias. [asperbio.com]

Free Books & Documents Excerpt Clinical characteristics: Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing [pubmed.ncbi.nlm.nih.gov]

Usher Syndrome Type 3A

Cochlear implants, unilateral or bilateral, are now more frequently used for patients with profound congenital hearing loss. [orpha.net]

profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function. [ltd.aruplab.com]

Hearing loss. In Type I Usher syndrome, most patients have congenital, profound sensorineural hearing loss at birth. [audiologyonline.com]

Congenital Cytomegalovirus Infection

[…] cortical activation patterns to those seen in patients with profound congenital hearing loss. [ncbi.nlm.nih.gov]

OBJECTIVE: To analyze speech in children with profound hearing loss following congenital cytomegalovirus (cCMV) infection with cochlear implantation (CI) before the age of [ncbi.nlm.nih.gov]

OBJECTIVES: Sensorineural hearing loss (SNHL) is one of the most frequent manifestations in patients with congenital cytomegalovirus (CMV) infection. [ncbi.nlm.nih.gov]