Conditions / Genetic
Jansen's metaphyseal chondrodysplasia
info · Genetic
A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
Signs and symptoms
- Delayed eruption of teeth
- Sagittal craniosynostosis
- Hypertelorism
- Downslanted palpebral fissures
- Flat palate
- Telecanthus
- Ptosis
- Low-set ears
- Sloping forehead
- Prominent supraorbital ridges
Also known as: Jansen Disease; Jansen Metaphyseal Dysostosis; Jansen metaphyseal chondrodysplasia; Murk Jansen Type Metaphyseal Chondrodysplasia