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Ossification anomalies-psychomotor developmental delay syndrome

Disease definition

A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia.

ORPHA:73230

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q79.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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