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symphalangism with multiple anomalies of hands and feet - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

symphalangism with multiple anomalies of hands and feet

MONDO:0008510

Also known as:Learman syndrome

Overview

Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.

ResearchLimited published research (2 articles)

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: Symphalangism of the 4th finger, Symphalangism of the 5th finger, and Reduced proximal interphalangeal joint space; and common findings: Macrocephaly, Absent distal interphalangeal creases, Brachydactyly, and Small thenar eminence and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	11	Symphalangism of the 4th finger, Symphalangism of the 5th finger, Toe syndactyly

Diagnosis

Biomarker and diagnostic research for symphalangism with multiple anomalies of hands and feet has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 13 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 symphalangism with multiple anomalies of hands and feet.

2 publications have been identified in PubMed for symphalangism with multiple anomalies of hands and feet. Research spans Diagnostic / Biomarker (50%) and Epidemiology / Natural History (50%).

Recent Publications

Mokhtari A (2026). [PMID: 40842263](https://pubmed.ncbi.nlm.nih.gov/40842263/). *Clinical genetics*. [Diagnostic / Biomarker]
Farhud DD (2024). [PMID: 39430143](https://pubmed.ncbi.nlm.nih.gov/39430143/). *Iranian journal of public health*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:185750

Orphanet

European rare disease database

Orphanet:3246

GARD

Genetic and Rare Diseases Info Center

GARD:5077

Questions for Your Care Team

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symphalangism with multiple anomalies of hands and feet

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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