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Spinal dysplasia
- ... been used to describe the condition include spondyloepiphyseal dysplasia, Omani type; humero-spinal dysostosis; and chondrodysplasia with multiple dislocations. Recently, researchers ...
- ... of movement. This combination of skeletal problems and spinal abnormalities is called spondyloepiphyseal dysplasia as it affects the bones of the spine ( ...
- ... scoliosis) and other spine abnormalities that compress the spinal cord. People with campomelic dysplasia may also have short stature and hearing loss. ...
- ... bone abnormalities that primarily involve the ribs and spinal bones (vertebrae). The gene mutations that cause cerebro-facio-thoracic dysplasia lead to production of abnormally short TMCO1 proteins ...
- ... DOMINANT 8; HMND8 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, ...
- ... Hope Foundation Familial Dysautonomia Now Foundation Families of Spinal Muscular Atrophy Fat Disorders Research Society Fetal Health Foundation Fibrous Dysplasia Foundation Fight ALD Fight for Sight (UK) Fighting ...
- ... Bone abnormalities in individuals with SPENCDI include flattened spinal bones (platyspondyly), abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia), and areas of damage (lesions) on the long ...
- ... facial features, and abnormalities of the ribs and spinal bones (vertebrae).In addition to intellectual disability, individuals with cerebro-facio-thoracic dysplasia have delayed development of speech and movement (motor) ...
- ... the most severe cases, the narrow chest and spinal abnormalities prevent the lungs from expanding fully, which restricts breathing. Researchers formerly recognized several distinct forms of metatropic dysplasia based on the severity of the condition's ...
- ... of the brain that is connected to the spinal cord (the brainstem).There are two forms of SOST-related sclerosing bone dysplasia: sclerosteosis and van Buchem disease. The two forms ...