/intellectual disability-myopathy-short stature-endocrine defect syndrome

intellectual disability-myopathy-short stature-endocrine defect syndrome

Rare Disease

MONDO:0009671

Also Known As

Chudley-Rozdilsky syndromeChudley Rozdilsky syndromeChudley syndromemulticore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadismmulticore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism

Definition

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.