Conditions / Genetic
pycnodysostosis
info · Genetic
An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
Signs and symptoms
- Carious teeth
- Spondylolisthesis
- Narrow palate
- Scoliosis
- Brachydactyly
- Osteolytic defects of the distal phalanges of the hand
- Short stature
- Persistent open anterior fontanelle
- Delayed eruption of primary teeth
- Increased bone mineral density