Conditions / Syndrome
progressive osseous heteroplasia
info · Syndrome
A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosom
A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.
Signs and symptoms
- Limb undergrowth
- Osteoma cutis
- Ankylosis
- Ectopic ossification in muscle tissue
Also known as: POH; ectopic ossification familial type; familial ectopic ossification; osteoma cutis