vitamin D-dependent rickets type 2A

info · Genetic

A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.

Signs and symptoms

Alopecia universalis
Epicanthus
Hearing impairment
Wide nasal bridge
Rickets
Frontal bossing
Tibial bowing
Delayed epiphyseal ossification
Difficulty standing
Femoral bowing