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triphalangeal thumbs-brachyectrodactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

triphalangeal thumbs-brachyectrodactyly syndrome

MONDO:0008607

Also known as:Carnevale-Hernández-del Castillo syndrometriphalangeal thumb and brachy-ectrodactyly syndrometriphalangeal thumb and brachyectrodactyly syndrome

Overview

Triphalangeal thumbs-brachyectrodactyly syndrome is characterized by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.

GeneticsAutosomal dominant

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: Triphalangeal thumb, Short 3rd toe, Brachydactyly, and Split foot and 2 more.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Short 3rd toe, Split foot, Split hand

Explore clinical features

Diagnosis

Biomarker and diagnostic research for triphalangeal thumbs-brachyectrodactyly syndrome has been reported in the published literature.

Prognosis

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 triphalangeal thumbs-brachyectrodactyly syndrome.

103 publications have been identified in PubMed for triphalangeal thumbs-brachyectrodactyly syndrome. Research spans Epidemiology / Natural History (29%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Disease patterns and progression	30	29%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:26 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:190680

Orphanet

European rare disease database

Orphanet:2947

GARD

Genetic and Rare Diseases Info Center

GARD:5290

Questions for Your Care Team

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triphalangeal thumbs-brachyectrodactyly syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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