/Noonan syndrome-like disorder with loose anagen hair

Noonan syndrome-like disorder with loose anagen hair

Rare Disease

MONDO:0011899

Also Known As

NS/LAHNoonan syndrome-like disorder with loose anagen hairTosti syndromeNSLHNSLH1Noonan syndrome-like disorder with loose anagen hair 1Noonan-like syndrome with loose anagen hair

Definition

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.