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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: C563291
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2018) Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

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.