congenital symmetric circumferential skin creases 2

Term ID

DOID:0112243

Synonyms

• CSCSC2

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 MAPRE2 gene on chromosome 18q12.1-q12.2. https://pubmed.ncbi.nlm.nih.gov/26637975/

References

• OMIM:616734

Ontology

Human Disease   ( DOID:0112243 )