Bart-Pumphrey syndrome

Definition

Any diffuse palmoplantar keratoderma caused by a variation in the GJB2 gene, characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.

Also known as Bart-Pumphrey syndrome — per MONDO

Also identified as

• DOID 0050658 per MONDO
• ICD9 759.89 per MONDO
• MESH C537210 per MONDO
• OMIM 149200 per MONDO
• Orphanet 2698 per MONDO
• SCTID 1271009 per MONDO
• UMLS C0266004 per MONDO