Metachondromatosis

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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.[citation needed]

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. 1.0 1.1 "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. Archived 20 April 2021 at the Wayback Machine
  2. Kennedy LA (1983). "metachondromatosis". Radiology. 148 (1): 117–8. doi:10.1148/radiology.148.1.6602353. PMID 6602353.
  3. 3.0 3.1 3.2 3.3 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. 5.0 5.1 5.2 RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Metachondromatosis". www.orpha.net. Archived from the original on 27 June 2019. Retrieved 23 December 2021. Archived 27 June 2019 at the Wayback Machine

External links

Classification
External resources