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Torg-Winchester syndrome

ORPHA3460
Synonym(s) Winchester syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • M89.5
OMIM
UMLS
  • C1850155
MeSH
  • C536051
MedDRA -

Summary

Winchester syndrome is characterized by extremely short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures of distal phalanges in combination with skin changes. It has been reported in only 10 patients since the first report in 1969. Mental development is normal. Parental consanguinity in some of the patients is indicative of an autosomal mode of inheritance, and a homozygous mutation in the MMP2 gene was identified in one affected patient. The diagnosis is based on clinical and radiological manifestations, but may be established by identification of this mutation. Prenatal diagnosis has not yet been reported for this syndrome, but is theoretically possible.


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