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multiple benign circumferential skin creases on limbs 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple benign circumferential skin creases on limbs 1

MONDO:0020738

Also known as:symmetric circumferential skin creases, congenital, 1CSCSC1skin creases, congenital symmetric circumferential, 1

Overview

GeneticsAutosomal dominant · TUBB (chr 6)

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 always present findings: Epicanthus, Narrow mouth, Short palpebral fissure, and Intellectual disability and others; and common findings: Long philtrum, Blepharophimosis, Low muscle tone (hypotonia), and Flat face and others. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Flat face, High palate, Cleft palate

Genetic Landscape

TUBB function has not been fully characterized.

Multiple benign circumferential skin creases on limbs 1 is associated with mutations in the TUBB gene on chromosome 6.

Diagnosis

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

Prognosis

Phenotype severity distribution: 7 always present features, 16 common features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:156610

Questions for Your Care Team

→Should I pursue genetic testing for TUBB, 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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multiple benign circumferential skin creases on limbs 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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