Congenital Deafness Associated with Onychodystrophy

Hereditary Congenital Deafness With Onychodystrophy

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THERE ARE numerous genetic syndromes involving deafness associated with various dermatological conditions.1 In 1961 Feinmesser and Zelig2 first reported two sisters with congenital deafness and onychodystrophy. This combination of defects was transmitted as an autosomal recessive.

To the best of our knowledge no other family with such a disorder has since been recorded.

The purpose of this report is to describe and to discuss a family with similar findings, but having a different mode of inheritance.

Report of Cases

The proband is a 61-year-old white woman who was hospitalized at Orange County Medical Center in April 1968 with symptoms of congestive heart failure.

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“…THERE ARE numerous genetic syndromes involving deafness associated with various dermatological conditions.1 In 1961 Feinmesser and Zelig2 first reported two sisters with congenital deafness and onychodystrophy. This combination of defects was transmitted as an autosomal recessive.…”

A Danish family with dominant deafness-onychodystrophy syndrome

“…In 1961 the first case report of familial deafness, onychodystrophy and strabismus was published. 2 It reported two affected sisters with consanguineous parents, suggesting autosomal recessive inheritance, but without mental retardation, excluding DOOR. jaundice and lethargy, but recovered quickly with phototherapy.…”

DOOR syndrome: Deficiency of E1 component of the 2‐oxoglutarate dehydrogenase complex

“…This syndrome has been reported in dominant and recessive forms (McKusick 124480 and 220500). Feinmesser and Zelig [1961] found affected sisters from a consanguineous mating. On the other hand, Goodman et al [1969] described a mother and son with sensorineural deafness and onychodystrophy.…”