ORPHA:2959
Progeria-short stature-pigmented nevi syndrome
Also called Mulvihill-Smith syndrome
- Body system
- Skin diseases
- Inheritance pattern
- Unknown
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:2959 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Abnormally high-pitched voice
- Gastroesophageal reflux
- Broad-based gait
- Low posterior hairline
- Sleep abnormality
- Immunodeficiency