ANE syndrome

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ANE syndrome

Synonyms: Alopecia-progressive neurological defect-endocrinopathy syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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