camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
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).
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0018234
dysostosis
is_a
Rozin hertz Goodman syndrome
related
camptodactyly, joint contractures, facial skeletal defects
related
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
exact