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cryptomicrotia-brachydactyly-excess fingertip arch syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cryptomicrotia-brachydactyly-excess fingertip arch syndrome

MONDO:0007409

Also known as:Cryptomicrotia-brachydactyly syndromeTonoki-Ohura-Niikawa syndromeCryptomicrotia brachydactyly syndrome excess fingertip arch

Overview

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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Brachytelomesophalangy, Abnormal dermatoglyphics, and Short distal phalanx of finger; and common findings: Bifid scrotum, Telecanthus, Freckling, and Hypoplastic toenails.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Hypoplastic toenails, Short distal phalanx of finger

Diagnosis

Biomarker and diagnostic research for cryptomicrotia-brachydactyly-excess fingertip arch syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cryptomicrotia-brachydactyly-excess fingertip arch syndrome.

152 publications have been identified in PubMed for cryptomicrotia-brachydactyly-excess fingertip arch syndrome. Research spans Review / Meta-Analysis (61%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Research summaries	93	61%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:123560

Orphanet

European rare disease database

Orphanet:1547

GARD

Genetic and Rare Diseases Info Center

GARD:8174

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cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications