Noonan Syndrome-Like Disorder with Loose Anagen Hair

**Semantic type:** Disease or Syndrome

**Definition:** An inherited condition caused by autosomal dominant mutation(s) in the SHOC2 or PPP1CB genes, encoding leucine-rich repeat protein SHOC-2 and serine/threonine-protein phosphatase PP1-beta catalytic subunit, respectively. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.

**Synonyms:** - NSLH