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Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
rareSilver-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).
- Identifiers
- MONDO:0019913 Orphanet:96182
- Also known as
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7 · UPD(7)mat
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