GTR Home > Conditions/Phenotypes > Craniometaphyseal dysplasia, autosomal recessive type

Summary

Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997). The delineation of separate autosomal dominant (CMDD; 123000) and autosomal recessive forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, whereas the recessive form is rare, severe, and possibly heterogeneous. [from OMIM]

Available tests

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Associated genes

Clinical features

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  • Nasal obstruction
  • Delayed eruption of permanent teeth
  • Coarse facial features
  • Telecanthus
  • Bony paranasal bossing
  • Facial hyperostosis
  • Club-shaped distal femur
  • Patchy sclerosis of finger phalanx
  • Macrocephaly
  • Broad alveolar ridges
  • Mandibular prognathia
  • Hypertelorism
  • Mixed hearing impairment
  • Wide nasal bridge
  • Optic atrophy
  • Abnormality of the thorax
  • Abnormality of the nasopharynx
  • Flared metaphyses
  • Facial palsy
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