Noonan syndrome-like disorder with loose anagen hair
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.
MONDO:0010908
loose anagen syndrome
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
MONDO:0020297
Noonan syndrome and Noonan-related syndrome
is_a
NS/LAH
exact
NSLH
related
NSLH1
related
Noonan syndrome-like disorder with loose anagen hair
exact
Noonan-like syndrome with loose anagen hair
related
Tosti syndrome
exact
SPBC776.02c SPCC31H12.05c