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.
Matched Phenotype
Gene
Mutation
MeSH
Rank
(Similarity) |
PMID
(PMCID) |
Phenotype(s) retrieved from Orphanet
Total: 7
| HPO ID |
Term |
Frequency |
| HP:0005872 |
Brachytelomesophalangy |
Very frequent (99-80%) |
| HP:0007477 |
Abnormal dermatoglyphics |
Very frequent (99-80%) |
| HP:0009882 |
Short distal phalanx of finger |
Very frequent (99-80%) |
| HP:0000048 |
Bifid scrotum |
Frequent (79-30%) |
| HP:0000506 |
Telecanthus |
Frequent (79-30%) |
| HP:0001480 |
Freckling |
Frequent (79-30%) |
| HP:0001800 |
Hypoplastic toenails |
Frequent (79-30%) |
Phenotype(s) retrieved from case reports
Total: 0
| HPO ID |
Term |
# of case reports |
Causative gene(s) retrieved from Orphanet
Total: 0
| Gene Symbol |
Gene Name |
Entrez Gene ID |
