| VITAMIN D-DEPENDENT RICKETS, TYPE 2A (VDDR2A) | |
| VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | |
|
277440
OMIM = Online Mendelian Inheritance of Men | |
|
93160 | |
| Vitamin D3 receptor | |
rare autosomal recessive | |
| Laboratory findings | Calcium dec (serum) Parathyroid hormone (PTH) inc (plasma) Phosphatase, alkaline inc (serum) Phosphate dec (serum) Vitamin D inc (plasma) |
| Symptoms | chest deformity defect of walking, running, rising or climbing epiphysis, delayed opacification failure to thrive head, posterior flattening of the skull hypoplastic enamel (thin) hypotonia motor retardation muscle weakness prominent abdomen prominent forehead seizures skeletal changes, skeletal abnormalities Teeth: delayed eruption or noneruption thin bony cortex widened cranial sutures alopecia bone fractures bowing of the legs dental caries growth retardation, poor growth hearing defect, deafness irritability limb abnormalities, limb deformities onset, infancy rickets skin defects |