Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
MONDO:0007409Cryptomicrotia - 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, CRYPTOMICROTIA-brachydactyly syndrome, Cryptomicrotia brachydactyly syndrome, Cryptomicrotia brachydactyly syndrome excess fingertip arch, Tonoki Ohura Niikawa syndrome, bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch
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