Orphanet: Noonan syndrome like disorder with loose anagen hair
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Noonan syndrome-like disorder with loose anagen hair

Disease definition

A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichtyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.

ORPHA:2701

Classification level: Disorder
  • Synonym(s):
    • Mazzanti syndrome
    • NS/LAH
  • 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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