A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges

Abstract

A family in which two generations have a rare and previously undescribed form of nail dysplasia with bone abnormalities is reported. This disorder is characterized by onychodystrophy, anonychia, brachydactyly of the fifth digit of the hands, and digitalization of the thumbs, with absence and/or hypoplasia of the distal phalanges of the hands and feet. The probable mode of transmission is autosomal dominant.

Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3–13.1

“…[7][8][9] The clinical manifestations and natural history of JHB described here are similar to those of the previously described mother and daughter with familial JHB. 1 The Ulnar mammary syndrome (OMIM 181450), the limb mammary syndrome (OMIM 603543), and the Holt Oram syndrome (OMIM 142900) are other genetic syndromes affecting both mammary glands and limbs.…”

“…7,8 This is the first report of AD inheritance for JHB. Linkage and haplotype analyses performed in this study exclude pseudodominant inheritance of a recessive disorder, and support the possibility of a single mutation or of mutations in two tightly linked genes, causing both ODP and JHB transmitted in an AD mode of inheritance.…”

“…Generally, the nails of the first to third digits are progressively deformed with total anonychia in the two last digits and in all toes. 7,8 Although all four documentations of this syndrome report that the affected individuals in the first generation were born to unaffected parents, an autosomal dominant (AD) mode of inheritance has been proposed based on the pedigree structure seen in the following generations, with affected offspring born to an affected parent (male and female) along two to three generations. [7][8][9] We present here for the first time a clinical, molecular, and genetic study of three successive generations of a large kindred, in which ODP afflicted eight males, and co-segregation of JHB and ODP presented in six females.…”

Cooks syndrome

“…In an entity called "20-nail dystrophy," dystrophy of the nails progresses with age. [6] A similar case of congenital anonychia and brachydayly of the left foot was reported as a possibility of a variant of Cooks syndrome in a 45-year-old male. [2] To conclude, Cook's syndrome is a rare autosomal dominant ectodermal dysplasia.…”

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

“…[1] Cooks syndrome is listed as a “rare disease” by the Office of Rare Diseases of the National Institutes of Health (NIH). Here we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity.…”