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Parietal foramina with clavicular hypoplasia

Disease definition

Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.

ORPHA:251290

  • Synonym(s):
    • Parietal foramina with cleidocranial dysplasia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q74.0
  • OMIM: 168550
  • UMLS: C1868597
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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