cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Rare Disease

MONDO:0007409

Also Known As

Cryptomicrotia-brachydactyly syndromeTonoki-Ohura-Niikawa syndromeCRYPTOMICROTIA-brachydactyly syndromeCryptomicrotia brachydactyly syndromeCryptomicrotia brachydactyly syndrome excess fingertip archTonoki Ohura Niikawa syndromebilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch

Definition

Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.