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ANE syndrome

Disease definition

A rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

ORPHA:157954

Classification level: Disorder
  • Synonym(s):
    • Alopecia-progressive neurological defect-endocrinopathy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: -
  • OMIM: 612079
  • UMLS: C2677535
  • MeSH: -
  • GARD: -
  • MedDRA: -
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