Total anonychia congenita and microcephaly with normal intelligence: A new autosomal-recessive syndrome?

Abstract

We report on 3 sibs (2 boys and a girl) with a previously apparently unrecognized combination of anonychia congenita and microcephaly with normal intelligence. The shape of the head is normal. Other anomalies include clinodactyly of the fifth fingers and bilateral single transverse palmar creases. Skeletal survey was normal in the 2 older children. These children and their first-cousin Iranian parents have widely spaced teeth. The children's first cousin also has total anonychia congenita and apparently small head. We review anonychia congenita, and conclude that the presently reported family with a "new autosomal-recessive disorder" provides further evidence of the heterogeneity of this condition.

Radial Shortening Osteotomy in Kienböck Disease

“…Although most of the syndromic types with congenital anonychia seem to be inherited in an autosomal dominant pattern, 5 there is a recent case of total congenital anonychia and microcephaly with normal intelligence, which has been reported to be autosomal recessively inherited. 6 Most of the isolated, non-syndromic cases of congenital anonychia have been reported either in a partial or in a total form, without bone changes or bone hypoplasia. The partial form may affect one or more digits 3 and it has been inherited in an autosomal-dominant pattern or recessively.…”

Total congenital anonychia in two children of the same family

“…Several syndromic types of this disorder and very few non‐syndromic have been reported in the literature (Table 1). Although most of the syndromic types with congenital anonychia seem to be inherited in an autosomal dominant pattern, 5 there is a recent case of total congenital anonychia and microcephaly with normal intelligence, which has been reported to be autosomal recessively inherited 6 . Most of the isolated, non‐syndromic cases of congenital anonychia have been reported either in a partial or in a total form, without bone changes or bone hypoplasia.…”

A Case Report on Autosomal Recessive Total Congenital Anonychia

“…It may occur as a single feature or as a part of a syndrome . Although most of the syndromic types with congenital anonychia seem to be inherited in an autosomal dominant pattern, there is a recent case of total congenital anonychia and microcephaly with normal intelligence, which has been reported to be autosomally recessively inherited . Isolated congenital anonychia means the absence of nails without any other coexisting major congenital anomaly, and is rare .…”