congenital symmetric circumferential skin creases 1

Term ID

DOID:0112242

Synonyms

• CSCSC1

Definition

A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33. https://pubmed.ncbi.nlm.nih.gov/26637975/

References

• OMIM:156610

Ontology

Human Disease   ( DOID:0112242 )