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Nonsyndromic hereditary hearing impairment
hearing loss or deafness that is inherited and is not associated with other inherit

148 bytes (19 words) - 09:41, 21 February 2024

Page text matches

Spastic paraplegia 29
...scence, associated with the additional manifestations of sensorial hearing impairment due to auditory [[neuropathy]] and persistent vomiting due to a hiatal or p

406 bytes (45 words) - 18:23, 5 April 2024
Deafness, X linked, DFN
...n. The term "DFN" stands for "Deafness, Nonsyndromic," indicating that the hearing loss is not associated with other signs and symptoms. ...earing loss can vary, occurring in infancy, childhood, or adolescence. The hearing loss is typically sensorineural, meaning it results from damage to the inne

2 KB (376 words) - 16:06, 30 March 2024
ICD 11 codes (A)
| ||-- [[Disorders with hearing impairment]] | [[AB50]] ||- - [[Congenital hearing impairment]]

10 KB (1,546 words) - 13:17, 3 November 2023
Proximal symphalangism
...trasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome; Vessel’s syndrome; Hereditary absence of proximal interphalangeal joints; Proximal symphalangism; Cushing *[[Hearing loss]] due to the fusion of the [[auditory ossicles]] (bones in the middle

2 KB (315 words) - 14:54, 15 February 2021
Corneal dystrophy and perceptive deafness
...helial [[dystrophy]] (CHED;) with progressive, postlingual [[sensorineural hearing loss]]. ...young as 4 years old has been detected by [[audiometry]], suggesting that hearing may be affected early in the disease course, even at birth.

3 KB (442 words) - 11:01, 2 October 2020
Branchiootorenal syndrome
...ts or anomalies of tissues in the neck, malformations of the external ear, hearing loss, and kidney malformations. ...loss may be [[Conductive Hearing Impairment|conductive]], [[Sensorineural Hearing Loss|sensorineural]], or a combination of both. Other common signs and symp

6 KB (866 words) - 14:00, 9 November 2020
Jones syndrome
...s with progressive deafness; GFD; Gingival fibromatosis with sensorineural hearing loss; Familial gingival fibromatosis associated with progressive deafness ...(enlargement and overgrowth of the gums) and progressive, [[sensorineural hearing loss]].

4 KB (540 words) - 13:15, 5 October 2020
Neuropathy motor sensory type 2 deafness mental retardation
...ory of [[Charcot-Marie-Tooth disease]] (CMT), which encompasses a group of hereditary motor and sensory neuropathies. The specific type discussed here, however, * '''Deafness''': Hearing impairment in this condition is typically bilateral and may range from mild to profoun

3 KB (355 words) - 20:35, 30 March 2024
Oculopharyngodistal myopathy
Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat ([ * In rare cases, there is also [[hearing loss]], as well as severe weakness in muscles of the forearms and thighs.

3 KB (393 words) - 13:08, 9 April 2021
Hereditary sensory and autonomic neuropathy type 1E
...hy-deafness-dementia syndrome; Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome; HSN1E Hereditary sensory and autonomic neuropathy type 1E (HSAN1E) is a progressive disorder

6 KB (835 words) - 15:53, 4 October 2020
Opticoacoustic nerve atrophy dementia
...ative disease]] characterized by a triad of progressive [[vision loss]], [[hearing loss]], and [[dementia]]. This condition falls under the broader category o * '''Acoustic Nerve Atrophy:''' Progressive hearing loss due to degeneration of the [[cochlear nerve]], responsible for transmi

3 KB (468 words) - 19:57, 30 March 2024
Specific language impairment
...evelopmental language disorder (DLD), language delay, or language learning impairment. SLI affects approximately 7% of children entering school and can persist i SLI is primarily identified through the significant impairment in the child's language ability that cannot be attributed to any general or

3 KB (478 words) - 18:48, 27 March 2024
SLI
...by difficulties in mastering language skills despite normal intelligence, hearing, and absence of any physical or social disabilities. SLI affects both under ...their nonverbal IQ and consider the child's language development history, hearing status, and social communication skills.

3 KB (392 words) - 05:50, 27 March 2024
Usher syndrome type 2A
Usher syndrome type 2A is a genetic condition characterized by hearing loss from birth and progressive vision loss that begins in adolescence or a ...ldren who are deaf, and another 3 to 6 percent of children who are hard-of-hearing.

6 KB (925 words) - 11:08, 12 October 2020
Abruzzo–Erickson syndrome
...st1=Robert J. Gorlin, Helga V. Toriello, M. Michael Cohen|title=Hereditary hearing loss and its syndromes|date=1995|publisher=Oxford University Press|location ...e urethra on the penis ([[hypospadius]]), mixed conductive-[[sensorineural hearing loss]], short stature, and an abnormal fusion of the bones of the forearm (

6 KB (710 words) - 10:56, 28 September 2020
List of diseases (N)
* [[Neuropathy hereditary with liability to pressure palsies]] * [[Neuropathy, hereditary motor and sensory, LOM type]]

8 KB (719 words) - 04:31, 4 October 2019
Usher syndrome, type 1
Usher syndrome is a genetic disorder characterized by [[sensorineural hearing loss]] or deafness and [[progressive]] [[vision loss]] due to [[retinitis p Sensorineural hearing means it is caused by abnormalities of the [[inner ear]].

6 KB (919 words) - 10:31, 12 October 2020
Spastic paraplegia 7
SPG7; Hereditary spastic paraplegia Paraplegin type ...t of a group of genetic disorders known as [[Hereditary spastic paraplegia|hereditary spastic paraplegias]]. These disorders are characterized by progressive mus

8 KB (1,105 words) - 11:49, 14 December 2020
Hereditary paraganglioma-pheochromocytoma
Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma; SD Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare [[neuroendocrine tumor]]

8 KB (1,028 words) - 09:37, 7 July 2020
Keratoderma palmoplantar deafness
Hereditary palmoplantar keratoderma with deafness (subtype); Focal palmoplantar kerato ...erma with deafness is a disorder characterized by skin abnormalities and [[hearing loss]].

6 KB (895 words) - 15:23, 15 May 2021