vitamin D-dependent rickets, type 2
ORPHA: 93160
Overview
a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with vitamin D-dependent rickets, type 2, sourced from HPO and Orphanet clinical annotations.
Abnormality of the dentitionDolichocephalyAbnormal thorax morphologyNephrolithiasisHyperparathyroidismAbnormal metaphysis morphologyAbnormality of the skinGait disturbanceJoint dislocationAlopeciaFrontal bossingHypophosphatemiaScoliosisBone painOsteomalaciaRecurrent fracturesOsteolysisGenu valgumHypocalcemiaGenu varumAbnormal hip bone morphologyAbnormal form of the vertebral bodiesAbnormal bone structureShort staturePremature loss of primary teethAbnormal adipose tissue morphologyBone cystCoarse metaphyseal trabecularization
Classification & Codes
Orphanet Code
ORPHA:93160vitamin D-dependent rickets, type 2
| Orphanet | ORPHA:93160 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO