Presentation
Syndromic or malformative deafness:
This population is defined by the association of deafness with clinical signs and/or malformations of other organs and/or malformations of different parts of the ear (outer, middle or inner). The associated signs may be congenital or appear with age.
Early-onset isolated deafness:
Isolated deafness diagnosed before the age of 15, bilateral, moderate to severe.
Download the request form for genomic sequencing for early-onset deafness here (in french)
Criteria before considering a discussion in MDM-FMG
Syndromic or malformative deafness:
Genome first strategy with in silico analysis of panel genes as a first step, followed by analysis of all OMIM genes.
- Unilateral or bilateral sensorineural hearing loss appearing before the age of 30 or congenital conductive hearing loss
- Associated with damage to one or more other organs or malformation of the outer and/or middle and/or inner ear
- Audiograms and imaging of the petrous bones of the index case available
- Sporadic and familial cases
- Normal CGH in cases of malformations
Early isolated deafness:
Genome strategy as a second-line approach after analysis of GJB2 and a panel of genes revealing no causative anomaly
- Bilateral sensorineural hearing loss appearing before the age of 15, ranging from moderate to profound
- Audiograms and imaging of the index case’s petrous bones available
- Sporadic and familial cases
- GJB2 and NGS Panel hearing loss Normal
- Completed clinical information form to be attached to e-prescription sites
MDM cartography
MDM-FMG SENSGENE SURGENE (genetic hearing loss)
Sandrine MARLIN
Laurence JONARD
Margaux SEREY-GAUT