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cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0007409:  cryptomicrotia-brachydactyly-excess fingertip arch syndrome
GARD:0008174: 
MESH:C536219: 
Orphanet:1547: 
SCTID:725096002: 
UMLS:C1852454: