Orphanet: Odontochondrodysplasia
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Odontochondrodysplasia

Disease definition

A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported.

ORPHA:166272

Classification level: Disorder
  • Synonym(s):
    • Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome
    • Goldblatt chondrodysplasia
    • Goldblatt syndrome
    • ODCD
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.8
  • OMIM: 184260
  • UMLS: C0018036  C2745953
  • MeSH: -
  • GARD: 8717
  • MedDRA: -
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