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GTR Home > Conditions/Phenotypes > Noonan syndrome-like disorder with loose anagen hair 1

Noonan syndrome-like disorder with loose anagen hair 1

Synonyms
MAZZANTI SYNDROME; TOSTI SYNDROME

Summary

Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (163950), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see 139250) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Reviews Komatsuzaki et al. (2010) reviewed the clinical manifestations of patients with Noonan syndrome, Costello syndrome (218040), and cardiofaciocutaneous syndrome (CFC; see 115150) compared to patients with mutations in the SHOC2 gene. They noted that although there is phenotypic overlap among the disorders, loose anagen/easily pluckable hair had not been reported in mutation-positive patients with Noonan, CFC, or Costello syndrome, and appeared to be a distinctive feature of SHOC2 mutation-positive patients. Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen Hair NSLH2 (617506) is caused by mutation in the PPP1CB gene (600590) on chromosome 2p23. [from OMIM]

Available tests

66 tests are in the database for this condition.

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Clinical tests (66 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NSLH1, SIAA0862, SOC2, SUR8, SHOC2
    Summary: SHOC2 leucine rich repeat scaffold protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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