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Betegségjelentés · Musculoskeletal

Spondyloepiphyseal Dysplasia with Joint Dislocations (CHST3)

Whole genome sequencing reads the CHST3 gene for the changes in both copies that cause a rare skeletal condition with short stature, joint dislocations at birth and curvature of the spine.

A betegségjelentés olyan ritka variánsokat keres, amelyekről ismert, hogy okozzák az általa lefedett betegségeket.

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A(z) condition ismertetése

A rare inherited skeletal condition causing short stature, joints that are dislocated at birth and curvature of the spine. It is caused by changes in both copies of the CHST3 gene.

This is a rare inherited skeletal condition. Short stature is present from before birth, and the knees, hips or elbows are dislocated at birth. Clubfoot is typical. Curvature of the spine, usually kyphosis and occasionally scoliosis, develops in childhood, and joint movement is limited and can worsen over time. Intellect and vision are normal.

It is caused by changes in both copies of CHST3, which makes chondroitin 6-sulfotransferase, an enzyme that modifies a key component of cartilage. Cartilage forms much of the skeleton during development, so changes in this enzyme affect how bones and joints form. Heart valve problems are seen less often, so heart checks are advised.

It is inherited in an autosomal recessive way. When both parents carry a change, each further child has a 1 in 4 chance of being affected. Surgery is the main treatment for the dislocations, clubfoot and spinal curvature, but it is often only partly successful and several operations may be needed. Genetic counselling is recommended, and carrier testing is available for relatives.

A vizsgált betegség

Autoszomális recesszív

Caused by changes in both copies of the CHST3 gene, which makes chondroitin 6-sulfotransferase, an enzyme that modifies a key component of cartilage.

Tünetek és jelek

Dislocated knees, hips or elbows at birth and clubfoot are typical. Short stature is present from before birth, and spinal curvature (kyphosis, and occasionally scoliosis) develops in childhood. Joint movement is limited and can worsen over time. Less often there are heart valve problems.

Mit változtat a diagnózis

Orthopaedic surgery is the main treatment for dislocations, clubfoot and spinal curvature, though it is often only partly successful and several operations may be needed. Heart checks are advised. Genetic counselling is recommended, and carrier testing is available for relatives.

Vizsgált gének

Más néven

bifurcation of distal humerus with oligoectro-syndactyly; chondrodysplasia with congenital joint dislocations, CHST3 type; chondrodysplasia with multiple dislocations; CHST3-related skeletal dysplasia; Gollop Coates syndrome; Humerospinal dysostosis; SDCD, CHST3 type; SEDCJD; spondyloepiphyseal dysplasia; spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type

MONDO:0007738OMIM 143095Orphanet 263463MedGen 373381Források: [1][2][3]

Miért a teljes genom szekvenálás

This skeletal condition is recessive, and orthopaedic treatment is often only partly successful, so planning with specialists matters.

Treatment is often staged

Surgery is the main treatment for the joints, clubfoot and spine, though physical therapy has not been effective. Regular review by an orthopaedist experienced in skeletal dysplasia is advised, along with heart checks.

Carrier testing for relatives

When both parents carry a change, each further child has a 1 in 4 chance of being affected and a 1 in 2 chance of being a carrier. Carrier testing for at-risk family members and prenatal or preimplantation testing for a pregnancy at increased risk are possible.

Hivatkozások

  1. Superti-Furga A, Unger S, 2011. Chondrodysplasia with Congenital Joint Dislocations, CHST3-Related. GeneReviews
  2. CHST3-related skeletal dysplasia. MedlinePlus Genetics
  3. Kausar M, Ain NU, Hayat F, Fatima H, Azim S, Ullah H et al., 2022. Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds. BMC musculoskeletal disorders

További musculoskeletal conditions

Minden feltétel →

Egy teszt. Egy életen át tartó válaszok.

Egy csomag, házhoz szállítva. Az egész genomját a diagnosztikai döntésekhez használt klinikai színvonalon szekvenáljuk. Orvos számára is használható jelentéseit 6–8 héten belül küldjük el a Genome Manager-be. Ezek tartósan érvényesek, és a tudomány fejlődésével frissülnek.

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