Prevalence<unk>  is a rare genetic disease. At least 204 cases of<unk>  have been reported. The precise incidence and prevalence of<unk>  are still unknown. A prevalence of 0.16% was suggested by Jajic et Jajic. Distribution<unk>  occurs more frequently in men than in women (ratio around 7:1). Moreover, men suffer from more severe symptoms (see table 1). African American people are affected to a higher extent. Table 1. Distribution of different forms of<unk>  among 201 reported affected men and women (167 men and 34 women). Form of<unk>  Sex Men Women Complete 45% 18% Incomplete 50% 71% Fruste 5% 12% Heredity In 25-38% of the cases, patients have a familial history of<unk> . It is suggested that the incomplete form and complete form are inherited in different ways: either autosomal dominant inheritance (involving a dominant allele) or autosomal recessive inheritance (involving a recessive allele). The autosomal dominant model of inheritance with penetrance and variable expression is confirmed in about half of the families, associated with the incomplete form. Of several families, an autosomal recessive model of inheritance is known, associated with the complete form with much more severe symptoms involving joint, bone and skin features. While the male-female ratio in<unk>  is skewed, this cannot be fully explained by X-linked inheritance. Two genes have been associated with this condition: hydroxyprostaglandin dehydrogenase 15-(NAD) (HPGD) and solute carrier organic anion transporter family, member 2A1/prostaglandin transporter (SLCO2A1). The underlying pathophysiology appears to be an abnormality of prostglandin E2 but the details have yet to be elucidated.
Pachydermoperiostosis
Acromegaly
Craniosynostosis
Melorheostosis
Buccal exostosis
Subungual exostosis
Achondroplasia
Pseudoachondroplasia