Hypochondroplasia

Reference work entry
DOI: https://doi.org/10.1007/3-540-29662-X_1305

Definition

Hypochondroplasia is a syndrome causing short stature, which is less pronounced than in achondroplasia. Radiographic features include decreased distance between the lumbar pedicles, pelvic flaring, and narrowing of the sciatic notches. Clinically, patients have mild frontal bossing and often a stocky build. Adults reach a height between 116–146 cm. Because patients may have normal growth until age 2, it is difficult to make the diagnosis at that age.

Therapy

Pharmacological

Growth hormone has been evaluated in the treatment of hypochondroplasia with improvement in height.

Non-pharmacological

Surgical intervention has been attempted in patietns with hypochondroplasia.

References

  1. Kanazawa H, Tanaka H, Inoue M, et al (2003) Efficacy of growth hormone therapy for patients with skeletal dysplasia. J Bone Miner Metab 21(5):307–10PubMedCrossRefGoogle Scholar
  2. Reiter EO, Rosenfeld RG (2003) Normal and aberrant growth. In: Williams, RH, Larsen R, et al (eds) Williams Textbook of Endocrinology, 10th ed. WB Saunders, Philadelphia, p 1035Google Scholar

Copyright information

© Springer-Verlag 2004