Noonan syndrome‑like disorder with loose anagen hair


Engelsk navn: Noonan syndrome-like disorder with loose anagen hair
Engelske synonym: Mazzanti syndrome,NS/LAH


Definisjon

A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichtyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.

Fra Orphanet

ORPHA: 2701
Klassifiseringsnivå: Disorder
ICD-10: Q87.1

Mer informasjon


Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)