Conditions / Genetic
spondyloepiphyseal dysplasia Stanescu type
info · Genetic
A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splayin
A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
Signs and symptoms
- Arthralgia
- Platyspondyly
- Waddling gait
- Kyphoscoliosis
- Coxa valga
- Short stature
- Stiff neck
- Vertebral wedging
- Joint stiffness
- Beaking of vertebral bodies
Also known as: SED Stanescu type; SEDSTN