Craniometaphyseal dysplasia, autosomal recessive (CMDR)

(OMIM phenotype number #218400)

The autosomal recessive form of Craniometaphyseal dysplasia (see CMD) is less common and more severe than the dominant. Diaphyseal sclerosis is more apparent in the recessive form and can be found in adults. Cranial nerve deficits have been reported in infancy and earlychildhood in a few patients, but the evolution of the findings in recessive CMD is not well documented.

Gene 

GJA1 gene, 6q22.31 (OMIM gene/locus number #121014), encoding for the gap junction alpha 1 protein and is also known as Connexin 43, CX43.

Phenotype

Hyperostosis and sclerosis of the craniofacial bones and abnormal modeling of the metaphyses, sclerosis of the skull, asymmetry of the mandible, cranial nerve compression with hearing loss, facial palsy, macrocephaly, coarse facial features, dystopia canthorum, hypertelorism, optic atrophy, broad nasal bridge, bony paranasal bossing, widened alveolar ridges, delayed eruption of permanent teeth, nasal obstruction leading to mouth breathing, mild anterior rib widening, obliteration of paranasal sinuses and mastoid, gene valgum, dense diaphyses, metaphyseal flaring, club-shaped distal femora, humeri, radii, ulnae bowing, metacarpal sclerosis, phalangeal sclerosis.

Other resources

References

  1. Sheppard WM, Shprintzen RJ, Tatum SA, et al. Craniometaphyseal dysplasia: a case report and review of medical and surgical management. Int J Pediatr Otorhinolaryngol. 2003 Jun;67(6):687-93.
  2. Masi L, Agnusdei D, Bilezikian J et al. Taxonomy of rare genetic metabolic bone disorders. Osteoporos Int. 2015 Jun 13.
  3. http://www.omim.org