Chudley Rozdilsky syndrome

Alternate names

Chudley syndrome

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.

NIH genetic and rare disease info

NIH info on Chudley Rozdilsky syndrome

Chudley Rozdilsky syndrome is a rare disease.

Resources

Frequently asked questions

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Rare diseases - Chudley Rozdilsky syndrome
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Chudley Rozdilsky syndrome
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