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Noonan syndrome-like disorder with loose anagen hair

Disease definition

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

ORPHA:2701

Classification level: Disorder
  • Synonym(s):
    • NS/LAH
    • Tosti syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 607721  617506
  • UMLS: C3501846
  • MeSH: -
  • GARD: 10719
  • MedDRA: -

Detailed information

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