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Deafness-oligodontia syndrome

MedGen UID:
387798
•Concept ID:
C1857333
•
Disease or Syndrome
Synonyms: Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia; Congenital profound sensorineural deafness and oligodontia
SNOMED CT: Deafness and oligodontia syndrome (715527006)
 
Monarch Initiative: MONDO:0009089
OMIM®: 221740
Orphanet: ORPHA3230

Definition

Rare syndrome with manifestation of sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Transmission appears to be autosomal recessive. [from SNOMEDCT_US]

Clinical features

From HPO
Congenital sensorineural hearing impairment
MedGen UID:
356101
•Concept ID:
C1865866
•
Disease or Syndrome
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
See: Feature record | Search on this feature
Diastema
MedGen UID:
3800
•Concept ID:
C0011998
•
Finding
Increased space between two adjacent teeth in the same dental arch.
See: Feature record | Search on this feature
Oligodontia
MedGen UID:
904670
•Concept ID:
C4082304
•
Congenital Abnormality
The absence of six or more teeth from the normal series by a failure to develop.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeafness-oligodontia syndrome
Follow this link to review classifications for Deafness-oligodontia syndrome in Orphanet.

Recent clinical studies

Etiology

Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.
Löppönen T, Dietz A, Väisänen ML, Valtonen H, Kosunen A, Hyvärinen A, Ignatius J, Löppönen H
Acta Otolaryngol 2012 Aug;132(8):862-73. Epub 2012 Jun 5 doi: 10.3109/00016489.2012.669498. PMID: 22668073

Diagnosis

Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.
Löppönen T, Dietz A, Väisänen ML, Valtonen H, Kosunen A, Hyvärinen A, Ignatius J, Löppönen H
Acta Otolaryngol 2012 Aug;132(8):862-73. Epub 2012 Jun 5 doi: 10.3109/00016489.2012.669498. PMID: 22668073
A particular case of deafness-oligodontia syndrome.
Marlin S, Denoyelle F, Busquet D, Garabedian N, Petit C
Int J Pediatr Otorhinolaryngol 1998 Jun 1;44(1):63-9. doi: 10.1016/s0165-5876(98)00029-9. PMID: 9720683

Prognosis

Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.
Löppönen T, Dietz A, Väisänen ML, Valtonen H, Kosunen A, Hyvärinen A, Ignatius J, Löppönen H
Acta Otolaryngol 2012 Aug;132(8):862-73. Epub 2012 Jun 5 doi: 10.3109/00016489.2012.669498. PMID: 22668073

Supplemental Content

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