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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Platyspondylic dysplasia, Torrance type?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
For a list of clinical trials in this disease area, please click here.