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Craniometaphyseal dysplasia

Orpha number ORPHA1522
Synonym(s) CMD
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • Q78.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 36601008

Summary

Craniometaphyseal dysplasia (CMD) is a rare generalized skeletal disorder : less than 70 cases in total have been reported in the literature. It usually presents in a young infant, but not immediately at birth, and is characterized by progressive hyperostosis and sclerosis of the craniofacial bones, with abnormal modelling of the metaphyses of the long bones. It may be inherited either as an autosomal dominant trait or as an autosomal recessive. The autosomal dominant form is the most frequent. The patients present with hypertelorism, paranasal bossing, and bilateral choanal narrowing secondary to bony sclerosis. These features tend to regress with growth and may disappear by adulthood. Facial bones hyperostosis leads to prominence of forehead and prognathism, it also may induce cranial nerves palsy : visual impairment or facial paralysis occasionally occur, and most patients develop a mixed hearing loss. Olfactory problems are often overlooked. Radiographic features include non-sclerotic widening of the long bones metaphyses with cortical thinning that is most obvious at the lower end of the femur. The metaphyseal flaring results in a flask appearance in childhood, and a club-shaped deformity in adulthood. Diaphyseal hyperostosis and sclerosis can be seen in the young but disappears with age. Short tubular bones have similar changes, and the pelvis and spine are normal. The cognitive prognosis for these patients is good, and the disease normally abates during the third decade of life. As is true in most autosomal dominant genetic disorders, there is considerable variability of expression in this syndrome. The gene has been localized on the 5p chromosome. The autosomal recessive form of CMD is less common, and the carrier frequency is not known. Craniofacial features are similar to the autosomal dominant form, except that there appears to be more pronounced facial involvement. Cranial nerve involvement is also more common, and the skull and mandible are larger and thicker. Marked nasofrontal bulging is evident in most cases and choanal obstruction is generally complete. Metaphyseal flaring is similar to the dominant form. Diaphyseal sclerosis is more apparent in the recessive form and can be found in adults. The gene was located on chromosome 6q21–22.


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Detailed information

Clinical genetics review
  • EN (2010)
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