Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

**Semantic type:** Disease or Syndrome

**Definition:** An inherited condition caused by autosomal dominant mutation(s) in the SHOC2 gene, encoding leucine-rich repeat protein SHOC-2. 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:** - Mazzanti Syndrome - NSLH1 - Tosti Syndrome