Silver‑Russell syndrome due to maternal uniparental disomy of chromosome 7
Engelsk navn: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Engelske synonym: UPD(7)mat
Definisjon
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).
Fra Orphanet
ORPHA: 96182
Klassifiseringsnivå: Subtype of disorder
ICD-10: Q87.1
Mer informasjon
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