We respect your privacy
Analytics cookies show us how the site is used; advertising cookies from Google and Meta measure our ads. Choose which to allow, and change it any time under Your Privacy Choices.
Condition report · Musculoskeletal
Rare inherited conditions in which bone becomes abnormally dense or thick. Thickening of the skull can compress nerves, causing facial palsy or hearing loss.
A condition report looks for rare variants known to cause the conditions it covers.
Autosomal recessive
A progressive bone overgrowth condition caused by SOST or LRP4 variants, with skull thickening, cranial nerve compression and often fused fingers.
Genes analysed
Also known as
cortical hyperostosis with syndactyly; cortical hyperostosis-syndactyly syndrome
Autosomal dominant
A condition caused by TGFB1 variants in which the shafts of the long bones thicken, causing limb pain, muscle weakness and tiredness.
Genes analysed
Also known as
CAEND; Camurati-Engelmann syndrome; Camurati-Englemann disease; CED; DPD1; progressive diaphyseal dysplasia
Autosomal dominant
A high bone mass condition caused by LRP5 variants, usually with few symptoms apart from a prominent jaw and bony growths in the mouth.
Genes analysed
Also known as
endosteal hyperostosis, Worth type; hyperostosis corticalis generalisata, benign form of Worth with torus palatinus; hyperostosis, endosteal; osteosclerosis of the skull and enlarged mandible; Ostéosclérose autosomique dominante type Worth; Van Buchem disease type 2; VBCH2; Worth syndrome; Worth's syndrome
Autosomal recessive
A condition caused by SFRP4 variants in which the ends of the long bones are widened and thin-walled, with a tendency to fractures.
Genes analysed
Also known as
Bakwin-Krida syndrome; metaphyseal dysplasia; metaphyseal dysplasia Pyle type; Pyle's disease; Pyle's syndrome; Pyle-Cohn syndrome
Autosomal dominant
Narrowing of the marrow cavity in long bones with a raised risk of bone sarcoma, caused by MTAP region variants.
Genes analysed
Also known as
BDMF; bone dysplasia-medullary fibrosarcoma syndrome; diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome; DMS-MFH; DMSMFH; Hardcastle syndrome; Hardcastle's syndrome
One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.
Free shipping · Results in 6–8 weeks
Premium adds $99 per kit for the first year.
