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 April 2024
Newly diagnosed with
ANE syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.