Metachondromatosis

Metachondromatosis
Other names: METCDS[1]
Metachondromatosis has an autosomal dominant pattern of inheritance.

Metachondromatosis is an autosomal dominant, [2] incompletely penetrant[3] skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas.[3] This tumor syndrome affects mainly tubular bones, though it can also involve the vertebrae, small joints, and flat bones.[4]

Signs and symptoms

Clinical a-d), radiographic e-i), and histologic j,k,l) features of metachondromatosis.

The clinical presentation of Metachondromatosis is the following:[1]

  • Abnormality of metaphysis
  • Avascular necrosis
  • Bone pain
  • Cranial nerve paralysis

Genetics

Metachondromatosis is inherited in an autosomal dominant manner.[3] This means that the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

It has been associated with PTPN11.[3]

Diagnosis

The diagnosis of this condition is based on the following:[5]

  • Clinical signs
  • Radiographic findings
  • Familial history

Differential diagnosis

The DDx for this condition is consistent with the following:[5]

  • Hereditary multiple osteochondromas
  • Ollier disease
  • Maffucci syndrome
  • Dysplasia epiphysealis hemimelica

Treatment

In terms of the management of this condition, severe malalignment can be dealt with via surgery[5]

References

  1. 1 2 "Metachondromatosis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 20 April 2021. Retrieved 23 December 2021.
  2. ↑ Kennedy LA (1983). "metachondromatosis". Radiology. 148 (1): 117–8. doi:10.1148/radiology.148.1.6602353. PMID 6602353.
  3. 1 2 3 4 Sobreira NL, Cirulli ET, Avramopoulos D, et al. (2010). "Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene". PLOS Genet. 6 (6): e1000991. doi:10.1371/journal.pgen.1000991. PMC 2887469. PMID 20577567.
  4. ↑ Hunter AG, Kozlowski K, Hochberger O (1995). "Metachondromatosis". Can Assoc Radiol J. 46 (3): 202–8. PMID 7538882.
  5. 1 2 3 RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Metachondromatosis". www.orpha.net. Archived from the original on 27 June 2019. Retrieved 23 December 2021.
Classification
External resources


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