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Multiple epiphyseal dysplasia, Lowry type

Disease definition

Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.

ORPHA:166016

Classification level: Disorder
  • Synonym(s):
    • Multiple epiphyseal dysplasia with Robin phenotype
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q78.8
  • OMIM: 601560
  • UMLS: C1832112
  • MeSH: -
  • GARD: -
  • MedDRA: -
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