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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
To fund research for treatment and/or a cure for CASK Gene Disorder
For a list of clinical trials in this disease area, please click here.