cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Findings
No curated finding names cryptomicrotia-brachydactyly-excess fingertip arch syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0007409), read 2026-09-29. CC BY 4.0.
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal dermatoglyphicsHPOHP:0007477
- Very frequent (80% to 99% of cases)
- BrachytelomesophalangyHPOHP:0005872
- Very frequent (80% to 99% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
- Bifid scrotumHPOHP:0000048
- Frequent (30% to 79% of cases)
- FrecklingHPOHP:0001480
- Frequent (30% to 79% of cases)
- Hypoplastic toenailsHPOHP:0001800
- Frequent (30% to 79% of cases)
- Telecanthus
Where it sits
Other names
2 names
Resolves to: cryptomicrotia-brachydactyly-excess fingertip arch syndrome
- Also called
- Cryptomicrotia-brachydactyly syndromeTonoki-Ohura-Niikawa syndrome