osteochondrodysplasia
bone development disease that results in defective development of cartilage or bone
osteogenesis imperfecta
osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue
Meyer dysplasia
Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis
multiple epiphyseal dysplasia
osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain
asphyxiating thoracic dysplasia
human disease
Kenny-Caffey syndrome
genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia
achondroplasia
osteochondrodysplasia that results in dwarfism from abnormal ossification of cartilage in long bones
diastrophic dysplasia
osteochondrodysplasia that has material basis in abnormal cartilage development due to mutations in the SLC26A2 gene which results in short limb dwarfism
Boomerang dysplasia
Human disease
terminal osseous dysplasia with pigmentary defects
Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis