Vohwinkel syndrome

Term ID

DOID:0111339

Synonyms

• congenital deafness with keratopachydermia and constrictions fo fingers and toes
• keratoderma hereditarium mutilans
• KHM
• mutilating keratoderma of Vohwinkel
• Mutilating keratoderma plus deafness
• PPK mutilans and deafness
• VOWNKL

Definition

A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. https://www.ncbi.nlm.nih.gov/pubmed/10369869

References

• MESH:C536457
• OMIM:124500
• ORDO:3092
• ORDO:494
• SNOMEDCT_US_2023_03_01:24559001
• UMLS_CUI:C0265964

Ontology

Human Disease   ( DOID:0111339 )