Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome

Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).

Epidemiology

Only four cases have been reported in the literature so far.

Genetic counseling

The mode of inheritance remains to be confirmed, but both autosomal dominant and recessive transmission have been considered.