People with this condition are short-statured from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. Curvature of the spine (scoliosis and lumbar lordosis) may be severe and can cause problems with breathing. Changes in the spinal bones (vertebrae) in the neck may also increase the risk of spinal cord damage. Other skeletal signs include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), a hip joint deformity in which the upper leg bones turn inward (coxa vara), and a foot deformity known as clubfoot. Affected individuals have mild and variable changes in their facial features. The cheekbones close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth, which is called a cleft palate. Severe nearsightedness (high myopia) and detachment of the retina (the part of the eye that detects light and color) are also common.
Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepimetaphyseal dysplasia, Pakistani type
Metaphyseal chondrodysplasia Schmid type
Achondrogenesis type 1B
Chondrodysplasia, Grebe type
Achondrogenesis type 2
Spondyloepiphyseal dysplasia congenita
Otospondylomegaepiphyseal dysplasia