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Gordon syndrome

Orpha number ORPHA376
Synonym(s) Camptodactyly - cleft palate- clubfoot
Distal arthrogryposis type 3
Distal arthrogryposis type IIA
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH
  • C537288
MedDRA -
SNOMED CT
  • 237850008

Summary

Gordon Syndrome is an extremely rare genetic disorder that is characterized by the combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot or talipes (abnormal bending inward of the foot), and, in 25 % of patients, cleft palate. Intelligence is normal but in some cases, additional abnormalities (for example, scoliosis and cryptorchidism) may also be present. The range and severity of symptoms may vary from case to case. Gordon Syndrome is thought to be inherited in an autosomal or X-linked dominant manner, with incomplete penetrance (more reduced in females than in males) and variable expressivity. Etiology remains unknown.


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