Conditions / Genetic
autosomal recessive hypophosphatemic rickets
info · Genetic
A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
Signs and symptoms
- Hypophosphatemic rickets
- Short stature
- Elevated circulating alkaline phosphatase concentration
- Genu varum
- Craniosynostosis
- Sensorineural hearing impairment
- Increased bone mineral density
- Rickets
- Hypophosphatemia
- Delayed skeletal maturation