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Gordon syndrome

ORPHA376
Synonym(s) Camptodactyly - cleft palate- clubfoot
Distal arthrogryposis type 3
Distal arthrogryposis type IIA
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Neonatal
Antenatal
ICD-10
  • Q68.8
OMIM
UMLS -
MeSH
  • C537288
MedDRA -

Summary

Gordon syndrome, also known as Distal arthrogryposis type 3, is an extremely rare autosomal dominant multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism, may also be present. Gordon syndrome, Marden-Walker syndrome and Arthrogryposis with oculomotor limitation and electroretinal anomalies (see these terms) clinically and genetically overlap and could represent variable expressions of the same condition.


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