Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

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).

Also known as: Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7, UPD(7)mat

0 clinical trials for this condition and its sub-types.