Disease name

Gordon 증후군
 Gordon syndrome

Prevalence

미상

Inheritance

상염색체 우성

Age of onset

신생아기, 영아기

ICD 10 code

Q87.8

MIM number

114300

Synonym

Camptodactyly - cleft palate- clubfoot
Distal arthrogryposis type 3
Distal arthrogryposis type IIA

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.