SYNDROMIC DEAFNESS

ASSOCIATED WITH SNHL( SENSORINEURAL HEARING LOSS )

1. Jervell-lange-nielson syndrome ( PGI 2002) = QT prolongation + SNHL

2. Pendred syndrome (PGI 02 ,07) = goitreImage + SNHL + mondini defect of cochlea

3. alport syndrome =nephropathy + SNHL

4. waardenburg syndrome(autosomal dominant) = white forlock of hair + heterochromia iridis + hypopigmentation of face + widening of intercanthal distance( telecanthus) + SNHL.

5. Usher syndrome =retinitis pigmentosa + SNHL + vestibular anomaly (TN 1997)

6. Klippel feil syndrome = aural atresia + vertebral fusion + short neck + low hair line + SNHL /MIXED HL

INHERITENCE :  PENDRED AND USHER SYNDROME ARE AUTOSOMAL RECESSIVE ,WARDENBURG IS AUTOSOMAL DOMINANT.

 

 

ASSOCIATED WITH CONDUCTIVE HEARING LOSS ( CHL)

1. Goldenhar syndrome (PGI 2004) = unilateral 1st and  2 nd arch anomaly ( note that TREACHER COLLINS SYNDROME IS bilateral 1st and 2 nd arch anomaly)Goldenhar = hemifacial microsomia + CHL + coloboma of eyelid + epibulbar dermoid

2. Treacher collin syndrome ( mandibulofacial dystosis)
3.) crouzon syndrome.
4.) VAN DER HOEVE SY NDROME= OSTEOGENESIS IMPERFECTA + BLUE SCLERA+ CHL DUE TO OTOSCLEROSIS).

ALSO REMEMBER:
CONGENITAL RUBELLA SYNDROME = SNHL + CATARACT + CARDIAC ANOMALY.

HUTCHINSONS TRIAD ( congenital syphills ) = peg shaped incisor + interstitial keratitis + SNHL.

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