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camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye

Disease Summary
Associated Targets ()

Mondo Description 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).
Mondo Term and Equivalent IDs
MONDO:0011262:  camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
GARD:0000216: 
MESH:C535876: 
Orphanet:1323: 
SCTID:715986009: 
UMLS:C1865133: