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Condition report · Musculoskeletal

Keutel Syndrome

A rare inherited condition in which cartilage throughout the body becomes abnormally calcified, often with short fingertips and narrowing of the lung arteries. It is caused by changes in both copies of the MGP gene.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of MGP, which makes matrix Gla protein, a vitamin K-dependent protein that stops calcium depositing in cartilage and other soft tissues. The changes stop the protein working.

Signs and symptoms

Diffuse calcification of cartilage, with short end bones of the fingers and a flat midface. Narrowing of the peripheral pulmonary arteries is common. In one family there were also brain white matter abnormalities and optic nerve atrophy.

What a diagnosis changes

Heart and lung assessment, including monitoring of pulmonary artery narrowing. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.

Genes analysed

Also known as

KTLS; pulmonic stenosis brachytelephalangism and calcification of cartilages; pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome

MONDO:0009495OMIM 245150Orphanet 85202MedGen 383722Sources: [2][1][3]

References

  1. Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA, 2005. A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. American journal of medical genetics. Part A
  2. Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D et al., 2014. Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. American journal of medical genetics. Part A
  3. Perrone E, Chen K, Ramos M, Milanezi MF, Nakano V, Falconi A et al., 2020. A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient. Molecular syndromology

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