Platyspondylic dysplasia, Torrance type
Synonyms: PLSD-T | Platyspondylic dysplasia, Torrance-Luton type | Platyspondylic lethal skeletal dysplasia, Torrance type
Platyspondylic lethal skeletal dysplasia (PLSD) Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones) platyspondyly with wafer-like vertebral bodies short ribs with anterior cupping severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal survival to adulthood has been reported in two families.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Platyspondylic dysplasia, Torrance type?
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Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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