Autosomal recessive nonsyndromic hearing loss 9
- Synonyms
- AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE; Deafness, autosomal recessive 9; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9; OTOF-Related Deafness
Summary
Excerpted from the GeneReview:OTOF-related deafness is characterized by two phenotypes: prelingual nonsyndromic auditory neuropathy spectrum disorder (ANSD) and, less frequently, temperature-sensitive auditory neuropathy spectrum disorder (TS-ANSD). OTOF-related ANSD is characterized by congenital or prelingual, typically severe-to-profound bilateral deafness without inner-ear anomalies on MRI or CT examination of the temporal bones. Otoacoustic emissions (OAEs) are present and auditory brain stem response is abnormal at birth. Newborn hearing screening testing of OAEs only will fail to detect this disorder in most individuals. OAEs may decrease or disappear with age in 20%-80% of individuals. TS-ANSD typically presents with normal-to-moderate hearing loss (0-55 dB) at baseline body temperature. An elevation of body temperature (approximately 0.5°C or more) triggers significant bilateral hearing loss ranging from severe to profound, with resolution of hearing loss typically occurring within hours of a return to baseline body temperature.
- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Hela Azaiez
- Ryan K Thorpe
- Richard JH Smith
- view full author information
Available tests
30 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (30 available)
Clinical features
Help- Abnormality of the nervous system
- Absent brainstem auditory responses
Absent brainstem auditory responses
- MedGen UID: 322983
- Concept ID: C1836742
- Finding: Finding
Abnormality of the nervous system
- Absent brainstem auditory responses
- Ear malformation
- Absence of acoustic reflex
Absence of acoustic reflex
- MedGen UID: 322049
- Concept ID: C1832834
- Finding: Finding
Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Absence of acoustic reflex
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