Platyspondylic Dysplasia, Torrance Type

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Platyspondylic Dysplasia, Torrance Type

  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck
  • Malar flattening
  • Prominent forehead
  • Polyhydramnios
  • Skeletal dysplasia
  • Coarse facial features

And another 34 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Platyspondylic Dysplasia, Torrance Type Is also known as platyspondylic dysplasia, torrance-luton type, thanatophoric dysplasia, torrance variant, lethal short-limbed platyspondylic dwarfism, torrance type, platyspondylic lethal skeletal dysplasia, torrance type, plsd-t.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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