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Condition report · Musculoskeletal
Inherited conditions in which fibrous tissue nodules or tumours form in the skin, muscle, bone or internal organs, including hyaline fibromatosis syndrome and infantile myofibromatosis.
A condition report looks for rare variants known to cause the conditions it covers.
Autosomal recessive
Skin nodules, gum overgrowth, painful joint contractures and, in severe forms, protein-losing diarrhoea, caused by variants in ANTXR2.
Genes analysed
Also known as
HFS; infantile systemic hyalinosis (former subtype); inherited systemic hyalinosis; juvenile hyaline fibromatosis (former subtype)
Autosomal dominant
Benign fibrous tumours in the skin, muscle, bone or organs appearing in infancy, most often caused by PDGFRB variants; many regress on their own.
Genes analysed
Also known as
IMS; infantile hemangiopericytoma; multicentric myofibromatosis; myofibromatosis
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.
