Conditions / Genetic
sclerosteosis 1
info · Genetic · ICD-10: M85.2
A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21.
Signs and symptoms
- Nail dysplasia
- Irregular menstruation
- Large face
- Headache
- Prominent supraorbital ridges
- Visual loss
- Tooth malposition
- Sclerotic vertebral endplates
- Papilledema
- Large sella turcica
Also known as: SOST1