Camptodactyly-joint contractures-facial skeletal defects syndrome

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Camptodactyly-joint contractures-facial skeletal defects syndrome

Synonyms: Rozin camptodactyly syndrome

A rare multiple congenital anomalies syndrome characterized 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).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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Camptodactyly-joint contractures-facial skeletal defects syndrome?

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