Haim–Munk syndrome

Also known as: Cathepsin C deficiency with arachnodactyly

Periodontitis with keratoderma and arachnodactyly.

Medical specialty: Dentistry
Subspecialty: Dentistry / Periodontology
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: CTSC

Etiology & mechanism

Cathepsin C mutation.

Gene(s) involved (1)

CTSC

Symptoms & signs (4)

arachnodactylykeratodermaonychogryposisperiodontitis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.