X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic condition. It is marked by severe intellectual disability, muscle stiffness affecting the limbs, retinal problems including Leber’s congenital amaurosis, and diabetes insipidus. In addition, brain imaging has revealed anomalies such as a thin corpus callosum, abnormal optic chiasm, enlarged brain ventricles, and diminished white matter. People with this condition may also have distinctive facial features including a long head shape, widely spaced eyes, deep-set eyes, underdeveloped nostrils, and low-set ears. They may experience growth issues such as short stature, as well as muscle tone differences, including low muscle tone in the trunk and increased tone in the central part of the body. These characteristics often emerge during early development and are identified during routine examinations, which may show increased prenatal α-fetoprotein levels and signs of growth restriction in the womb.

Common symptoms include severe intellectual disability, spastic quadriparesis (stiffness and difficulty moving all four limbs), Leber’s congenital amaurosis (a severe vision impairment from birth), and diabetes insipidus. There are also characteristic facial features, such as a long head shape, widely spaced and deep-set eyes, underdeveloped nostrils, and low-set ears. Short stature and differences in muscle tone, especially in the trunk and axial muscles, are also noted.

This condition is genetic and is inherited in an X-linked pattern. This means that the genetic change or mutation is located on the X chromosome. However, specific genes associated with this disorder have not been clearly identified in the available sources.