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Condition report · Musculoskeletal
Inherited skeletal conditions that affect the ends of the long bones and, in some forms, the spine. They can cause short stature, joint pain and early-onset osteoarthritis.
A condition report looks for rare variants known to cause the conditions it covers.
Autosomal dominant
Skeletal dysplasias caused by COMP variants, ranging from pseudoachondroplasia with marked short stature to milder multiple epiphyseal dysplasia.
Genes analysed
Autosomal dominant
Skeletal dysplasias caused by COL2A1 variants that affect the spine and the ends of the long bones, often with nearsightedness and a risk of retinal detachment.
Genes analysed
Autosomal recessive
A spectrum of skeletal dysplasias caused by SLC26A2 variants, from recessive multiple epiphyseal dysplasia to diastrophic dysplasia and lethal forms.
Genes analysed
A group of conditions affecting the ends of the long bones, causing joint pain and stiffness and early osteoarthritis, caused by genes including COMP, MATN3, COL9A1, COL9A2, COL9A3 and SLC26A2.
Also known as
Dominant Multiple Epiphyseal Dysplasia; EDM; MED; multiple epiphyseal dysplasia (disease); Polyepiphyseal dysplasia
Autosomal dominant
COL2A1 dysplasia with short trunk, enlarged joints, cleft palate, myopia and hearing loss.
Genes analysed
Autosomal dominant
Severe COL2A1 skeletal dysplasia with flattened vertebrae and short limbs.
Genes analysed
Also known as
lethal short-limbed Platyspondylic dwarfism Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic lethal skeletal dysplasia Torrance type; platyspondylic skeletal dysplasia, Torrance type; PLSD-T; PLSDT; thanatophoric dysplasia Torrance variant
Autosomal dominant
COL2A1 dysplasia with short stature, spinal curvature and irregular bone ends.
Genes analysed
Also known as
SEMDSTWK; SmD; SMED Strudwick type; SMED type 1
Autosomal dominant
COL2A1-related malformation of the hip ball causing early hip arthritis.
Genes analysed
Specific forms also covered
Autosomal dominant
Short stature, spinal changes and corner-fracture-like bone changes caused by FN1 variants.
Genes analysed
Also known as
SMDCF; spondylometaphyseal dysplasia Sutcliffe type; Sutcliffe SmD; Sutcliffe type of spondylometaphyseal dysplasia
Autosomal recessive
Short stature, joint laxity and hand changes caused by XYLT1 variants.
Genes analysed
Also known as
Baratela-Scott syndrome; DBQD2; Desbuquois dysplasia caused by mutation in XYLT1; Desbuquois dysplasia type 2; XYLT1 Desbuquois dysplasia
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