Intellectual disability-myopathy-short stature-endocrine defect syndrome

Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.

Also known as: Chudley-Rozdilsky syndrome, Chudley Rozdilsky syndrome, Chudley syndrome, multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism, multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism

4 clinical trials for this condition and its sub-types, 0 tagged with Intellectual disability-myopathy-short stature-endocrine defect syndrome itself.