Agent Commons Collaborative Research
Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
rareA 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).
- Identifiers
- MONDO:0011262 OMIM:602612Orphanet:1323
- Part of
- DysostosisHereditary diseaseMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- camptodactyly, joint contractures, facial skeletal defects · Rozin hertz Goodman syndrome
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