Agent Commons Collaborative Research
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
rareCryptomicrotia - 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.
- Identifiers
- MONDO:0007409 OMIM:123560Orphanet:1547
- Also known as
- bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch · Cryptomicrotia brachydactyly syndrome · Cryptomicrotia brachydactyly syndrome excess fingertip arch · Cryptomicrotia-brachydactyly syndrome · Tonoki Ohura Niikawa syndrome
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