Camptodactyly-joint contractures-facial skeletal defects syndrome

Orpha code: 1323OMIM code: 602612

Definition

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).

Disease data
Classification

Malformation syndrome

Synonyms
Rozin camptodactyly syndrome
Zespół Rozina, Hertza i Goodmana
Zespół Rozina - kamptodaktylia
ORPHA code
1323
OMIM code
602612
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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