Hereditary Congenital Deafness With Onychodystrophy

Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature

“…Family with anonychia and ectrodactyly described by Kumar and Levik[9] was characterized by relatively bizarre, asymmetric digital anomalies, including absence of one or more digits and hypoplasia of metacarpals and metatarsals, which distinguishes it from the reported case. In several genetic syndromes of congenital anonychia or onychodystrophy, other clinical features coexist such as hair and teeth anomalies,[10] eye defects,[11] deafness,[12] joint contractures,[13] mental retardation[14] ectrodactyly[15] and facial anomalies. [1617] Neither the family of Cooks et al .…”

A Danish family with dominant deafness-onychodystrophy syndrome

“…The described anomalies were, in both families, considered to be inherited via a autosomaldominant transmission. 4,5 In 1999, Kondoh et al described the DDOD syndrome with manifestation of short thumbs and 5th fingers hallmarks of this rare disorder, with autosomal dominant transmission. Features like late dentition, conical teeth, oligodontia, bulbous swelling of terminal phalanges, triphalangeal thumb and brachydactyly are also a part of the DDOD syndrome, but presents with greater variability.…”

DOOR syndrome (deafness, onycho‐osteodystrophy, and mental retardation): A new patient and delineation of neurologic variability among recessive cases

“…Multiple alleles are likely to exist, each with a potentially different effect on the gene product. The relationship between the recessive form of the DOOR syndrome and the dominant form, a milder disorder, also remains to be defined [Goodman et al, 1969;Moghadam et al, 19721. Genotype-phenotype correlations will be possible when the DOOR syndrome genes have been cloned and the alleles identified.…”