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split hand-foot malformation 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

split hand-foot malformation 3

MONDO:0009525

Also known as:10q24 microduplication syndromeButtiens-Fryns syndromeSHFM3

Overview

The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.

GeneticsAutosomal recessive, Autosomal 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 sometimes findings: Hypoplasia of the maxilla. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Cleft palate, Hypoplasia of the maxilla, High palate
Skin

Diagnosis

Biomarker and diagnostic research for split hand-foot malformation 3 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 split hand-foot malformation 3.

112 publications have been identified in PubMed for split hand-foot malformation 3. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (16%), and Case Report / Case Series (4%).

Research Type	Count	% of Total
Research summaries	80	71%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:246560

Orphanet

European rare disease database

Orphanet:1307

GARD

Genetic and Rare Diseases Info Center

GARD:3252

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

split hand-foot malformation 3

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

split hand-foot malformation 3

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