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tibia, hypoplasia or aplasia of, with polydactyly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tibia, hypoplasia or aplasia of, with polydactyly

MONDO:0008572

Also known as:Werner mesomelic syndromeabsent tibia-polydactyly syndromehypoplastic or aplastic tibia with polydactyly

Overview

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.

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 very common findings: Triphalangeal thumb, Preaxial polydactyly, Abnormal fibula morphology, and Short stature and others; and common findings: Synostosis of carpal bones and Aplasia/Hypoplasia of the thumb. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	1	Short stature

Diagnosis

Biomarker and diagnostic research for tibia, hypoplasia or aplasia of, with polydactyly has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 very common features, 2 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 tibia, hypoplasia or aplasia of, with polydactyly.

402 publications have been identified in PubMed for tibia, hypoplasia or aplasia of, with polydactyly. Kisho has analyzed 108 by research type. Research spans Case Report / Case Series (38%), Review / Meta-Analysis (21%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	41	38%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:188740

Orphanet

European rare disease database

Orphanet:3332 Orphanet:988

GARD

Genetic and Rare Diseases Info Center

GARD:8309

Questions for Your Care Team

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Kisho

tibia, hypoplasia or aplasia of, with polydactyly

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

tibia, hypoplasia or aplasia of, with polydactyly

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