ORPHA:2701
Noonan syndrome-like disorder with loose anagen hair
Also called Mazzanti syndrome, NS/LAH
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Antenatal, Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:2701 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Webbed neck
- Low posterior hairline
- Sparse scalp hair
- Delayed skeletal maturation
- Short nose
- Short stature