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Intellectual disability-myopathy-short stature-endocrine defect syndrome

Disease 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.

ORPHA:3068

Classification level: Disorder
  • Synonym(s):
    • Chudley-Rozdilsky syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 253320
  • UMLS: C1854663
  • MeSH: -
  • GARD: 1358
  • MedDRA: -
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