ANE syndrome

ANE syndrome is 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.

Also known as: ANE syndrome, alopecia-progressive neurological defect-endocrinopathy syndrome, alopecia, neurologic defects, and endocrinopathy syndrome, anes

0 clinical trials for this condition and its sub-types, 0 tagged with ANE syndrome itself.