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Ear-patella-short stature syndrome

Disease definition

A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature 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

Classification level: Disorder
  • 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
  • ICD-11: LD24.JY
  • OMIM: 224690  613800  613803  613804  613805  616835  617063
  • UMLS: C1868684
  • MeSH: C538012
  • GARD: 2033
  • MedDRA: 10070612

  A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006) Polski ()

Detailed information

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.