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.
Growth hormone has been evaluated in the treatment of hypochondroplasia with improvement in height.
Surgical intervention has been attempted in patietns with hypochondroplasia.
- 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