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Metadata
ID DOID:0111339
Name Vohwinkel syndrome
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
Xrefs

MESH:C536457

OMIM:124500

ORDO:3092

ORDO:494

SNOMEDCT_US_2023_03_01:24559001

UMLS_CUI:C0265964

Subsets

DO_rare_slim

Synonyms

congenital deafness with keratopachydermia and constrictions fo fingers and toes [EXACT]

keratoderma hereditarium mutilans [EXACT]

KHM [EXACT]

mutilating keratoderma of Vohwinkel [EXACT]

Mutilating keratoderma plus deafness [EXACT]

PPK mutilans and deafness [EXACT]

VOWNKL [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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