Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
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.
Also known as Cryptomicrotia-brachydactyly syndrome, Tonoki-Ohura-Niikawa syndrome — per MONDO