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Ear-patella-short stature syndrome

Disease definition

Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).

ORPHA:2554

  • Synonym(s):
    • Meier-Gorlin syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.1
  • OMIM: 224690  613800  613803  613804  613805  616835  617063
  • UMLS: C1868684
  • MeSH: C538012
  • GARD: 2033
  • MedDRA: 10070612

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