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syndactyly type 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndactyly type 4

MONDO:0008515

Also known as:LMBR1 non-syndromic syndactylynon-syndromic syndactyly caused by mutation in LMBR1polysyndactyly, Haas type

Overview

A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).

GeneticsAutosomal dominant · LMBR1 (chr 7)

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, Postaxial polydactyly, 1-5 finger cutaneous syndactyly, and 1-5 finger complete cutaneous syndactyly and 4 more.

Organ System	Phenotype Count	Example Features
Arms and legs	3	1-5 finger cutaneous syndactyly, 1-5 finger complete cutaneous syndactyly, 2-3 toe syndactyly

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LMBR1 encodes limb development membrane protein 1 (490 aa). Putative membrane receptor Highest expression in Adrenal Gland (16.9 TPM) and Testis (14.8 TPM).

Syndactyly type 4 is associated with mutations in the LMBR1 gene on chromosome 7.

LMBR1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for LMBR1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

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

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:186200

Orphanet

European rare disease database

Orphanet:93405

GARD

Genetic and Rare Diseases Info Center

GARD:4434

Questions for Your Care Team

→Should I pursue genetic testing for LMBR1, and what would the results mean for my family?
→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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syndactyly type 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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