Knuckle pads, leuconychia and sensorineural deafness
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2698
Definition
A rare, syndromic genetic deafness disease characterized by symmetric or asymmetirc knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Silver Spring, MD, 20910 , United States Phone: +1-301-587-1788 TTY: +1-301-587-1789 Fax : +1-301-587-1791 Email: NADinfo@nad.org Url: https://www.nad.org/ Name: Foundation for Ichthyosis and Related Skin Types FIRST 2616 North Broad Street
Colmar, PA, 18915 , United States Phone: +1-215-997-9400 Toll Free: 1-800-545-3286 Email: info@firstskinfoundation.org Url: http://www.firstskinfoundation.org/ Name: American Society for Deaf Children (ASDC) PO Box 23
Woodbine, MD, 21797, United States Toll Free: 1-800-942-2732 Email: info@deafchildren.org Url: http://deafchildren.org/ Name: Hearing Loss Association of America 7910 Woodmont Avenue Suite 1200
Bethesda, MD, 20814, United States Phone: +1-301-657-2248 Email: info@hearingloss.org Url: https://www.hearingloss.org/
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