Two genes have been associated with this condition: hydroxyprostaglandin dehydrogenase 15-(NAD) (HPGD) in chromosome 4 (4q34.1) and solute carrier organic anion transporter family member 2A1 (SLCO2A1) in chromosome 3 (3q22.1-q22.2). This syndrome occurs if both copies of either gene are mutated (autosomal recessive inheritance)
Pachydermoperiostosis
Acromegaly
Craniosynostosis
Melorheostosis
Buccal exostosis
Subungual exostosis
Achondroplasia
Pseudoachondroplasia