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Abnormal auditory evoked potentials

MedGen UID:
141758
Concept ID:
C0522216
Finding
Synonyms: Abnormal brainstem auditory-evoked potentials
SNOMED CT: Abnormal auditory evoked potential (102971006)
 
HPO: HP:0006958

Definition

An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal auditory evoked potentials

Conditions with this feature

Freeman-Sheldon syndrome
MedGen UID:
120516
Concept ID:
C0265224
Congenital Abnormality
Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Cockayne syndrome, type III
MedGen UID:
196713
Concept ID:
C0751037
Disease or Syndrome
Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases even a small amount of sun exposure can cause a sunburn or blistering of the skin. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans.People with Cockayne syndrome have a serious reaction to an antibiotic medication called metronidazole. If affected individuals take this medication, it can cause life-threatening liver failure.Cockayne syndrome is sometimes divided into types I, II, and III based on the severity and age of onset of symptoms. However, the differences between the types are not always clear-cut, and some researchers believe the signs and symptoms reflect a spectrum instead of distinct types. Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some researchers consider it to be a separate but similar condition, others classify it as part of the Cockayne syndrome disease spectrum.
Cockayne syndrome B
MedGen UID:
155487
Concept ID:
C0751038
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a phenotypic spectrum that includes: CS type I, the "classic" or “moderate” form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal syndrome (COFS) or Pena-Shokeir syndrome type II; CS type III, a milder form; Xeroderma pigmentosum-Cockayne syndrome (XP-CS). CS type I (moderate CS) is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II (severe CS or early-onset CS) is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age seven years. CS type III (mild CS or late-onset CS) is characterized by essentially normal growth and cognitive development or by late onset. Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, including intellectual disability, spasticity, short stature, and hypogonadism. XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS dysmyelination and calcifications.
Cockayne syndrome type A
MedGen UID:
155488
Concept ID:
C0751039
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a phenotypic spectrum that includes: CS type I, the "classic" or “moderate” form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal syndrome (COFS) or Pena-Shokeir syndrome type II; CS type III, a milder form; Xeroderma pigmentosum-Cockayne syndrome (XP-CS). CS type I (moderate CS) is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II (severe CS or early-onset CS) is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age seven years. CS type III (mild CS or late-onset CS) is characterized by essentially normal growth and cognitive development or by late onset. Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, including intellectual disability, spasticity, short stature, and hypogonadism. XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS dysmyelination and calcifications.
Charcot-Marie-Tooth disease, type 4D
MedGen UID:
371304
Concept ID:
C1832334
Disease or Syndrome
Charcot-Marie-Tooth neuropathy type 4 (CMT4) is a group of progressive motor and sensory axonal and demyelinating neuropathies that are distinguished from other forms of CMT by autosomal recessive inheritance. Affected individuals have the typical CMT phenotype of distal muscle weakness and atrophy associated with sensory loss and, frequently, pes cavus foot deformity.
Charcot-Marie-Tooth disease, type 4B1
MedGen UID:
321947
Concept ID:
C1832399
Disease or Syndrome
Charcot-Marie-Tooth neuropathy type 4 (CMT4) is a group of progressive motor and sensory axonal and demyelinating neuropathies that are distinguished from other forms of CMT by autosomal recessive inheritance. Affected individuals have the typical CMT phenotype of distal muscle weakness and atrophy associated with sensory loss and, frequently, pes cavus foot deformity.
Auditory neuropathy, autosomal dominant, 1
MedGen UID:
322984
Concept ID:
C1836743
Disease or Syndrome
Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease (Satya-Murti et al., 1979) and has been observed in Friedreich ataxia (Satya-Murti et al., 1980). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, 601071.
ABCD syndrome
MedGen UID:
333014
Concept ID:
C1838099
Disease or Syndrome
Autosomal dominant optic atrophy plus syndrome
MedGen UID:
377632
Concept ID:
C1852267
Disease or Syndrome
Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).
Kaplan Plauchu Fitch syndrome
MedGen UID:
349738
Concept ID:
C1860145
Disease or Syndrome
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
MedGen UID:
349489
Concept ID:
C1862373
Disease or Syndrome

Recent clinical studies

Etiology

Ivanov IS, Popov NT, Moshe RI, Chepisheva EV, Geneva IE, Panova MV, Karparov AA, Shmilev TI, Stefanov RS, Bosheva MN
Folia Med (Plovdiv) 2012 Oct-Dec;54(4):37-44. PMID: 23441468
Boutros N, Nasrallah H, Leighty R, Torello M, Tueting P, Olson S
Psychiatry Res 1997 Mar 24;69(2-3):183-95. PMID: 9109186

Diagnosis

Ivanov IS, Popov NT, Moshe RI, Chepisheva EV, Geneva IE, Panova MV, Karparov AA, Shmilev TI, Stefanov RS, Bosheva MN
Folia Med (Plovdiv) 2012 Oct-Dec;54(4):37-44. PMID: 23441468
Swanepoel D
Clin Genet 2007 Oct;72(4):369-73. doi: 10.1111/j.1399-0004.2007.00870.x. PMID: 17850635
Boutros N, Nasrallah H, Leighty R, Torello M, Tueting P, Olson S
Psychiatry Res 1997 Mar 24;69(2-3):183-95. PMID: 9109186
Verma NP, Desai SG, Simon MR, King SD
J Lab Clin Med 1988 Jun;111(6):692-700. PMID: 3373113

Therapy

Ivanov IS, Popov NT, Moshe RI, Chepisheva EV, Geneva IE, Panova MV, Karparov AA, Shmilev TI, Stefanov RS, Bosheva MN
Folia Med (Plovdiv) 2012 Oct-Dec;54(4):37-44. PMID: 23441468
Verma NP, Desai SG, Simon MR, King SD
J Lab Clin Med 1988 Jun;111(6):692-700. PMID: 3373113

Prognosis

Ivanov IS, Popov NT, Moshe RI, Chepisheva EV, Geneva IE, Panova MV, Karparov AA, Shmilev TI, Stefanov RS, Bosheva MN
Folia Med (Plovdiv) 2012 Oct-Dec;54(4):37-44. PMID: 23441468
Verma NP, Desai SG, Simon MR, King SD
J Lab Clin Med 1988 Jun;111(6):692-700. PMID: 3373113
Barnet AB, Weiss IP, Sotillo MV, Ohlrich ES, Shkurovich M, Cravioto J
Science 1978 Aug 4;201(4354):450-2. PMID: 96529

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