Hypophosphatemic Rickets Clinical Presentation

Updated: Apr 22, 2022
  • Author: James CM Chan, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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The earliest clinical sign of hypophosphatemic rickets is usually a somewhat slowed growth rate in the first year of life. The next clinical sign is the patient's reluctance to bear weight when beginning to stand or walk. Oddly, affected individuals do not have seizures and other systemic signs related to muscle function or oxidative metabolism.

To the degree that heterozygous females are affected, the patient's maternal family history is likely to include short stature and rickets. Short stature in men is also expected. Older children may have a history of late dentition or multiple dental abscesses.


Physical Examination

Affected newborns have normal weight, but infants may show growth retardation. Intellectual development is unaffected. Widened joint spaces and flaring at the knees may become apparent in children by their first birthday, particularly in boys. When a child begins to stand and walk, bowing of the weight-bearing long bones quickly becomes clinically evident. Dentition may be absent or delayed in very young children; older children may experience multiple dental abscesses.