ORPHA:2342
Haim-Munk syndrome
Also called Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome, Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome, Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood, Infancy
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:2342 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Periodontitis
- Palmoplantar keratoderma
- Carious teeth
- Palmoplantar hyperkeratosis
- Arachnodactyly
- Pes planus