Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).
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Russell-silver syndrome, X-linked
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Silver-Russell syndrome 3
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ring chromosome 7
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mosaic trisomy 7
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silver-Russell syndrome due to 7p11.2p13 microduplication
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silver-Russell syndrome due to an imprinting defect of 11p15
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