platyspondylic dysplasia, Torrance type
MONDO:0007895
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Platyspondylic lethal skeletal dysplasia, Torrance type
Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, a small chest with short ribs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and abnormal curvature of the spine (lordosis). As a result of these serious skeletal problems, many infants with platyspondylic lethal skeletal dysplasia, Torrance type are born prematurely, are stillborn, or die shortly after birth from respiratory failure. A few affected people with milder signs and symptoms have lived into adulthood.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.