Investigation and Management of Tall Stature
Individuals with Sotos syndrome have distinctive facies (prominent forehead, hypertelorism, downslanting palpebral fissures, pointed chin), large dolicephalic head, excessive growth and learning difficulties. There is prenatal and postnatal overgrowth and disproportionately long limbs. The height velocity is increased during the first 4 years of life and is normal or height-appropriate thereafter. Adults are tall with some reaching excessive heights, but most do not require intervention to limit final height. There may be delayed motor development, delayed speech and learning difficulties, although up to 10% have no reduction in IQ. Deletions in the NSD1 gene account for the majority of cases and there may be autosomal dominant transmission.
This syndrome is also characterised by prenatal and postnatal overgrowth, typical facies (hypertelorism, large ears, depressed nasal bridge, downslanting palpebral fissures, broad face, dimpled chin, prominent wide philtrum, micrognathia), hypo or hypertonia, advanced skeletal maturation and camptodactyly. Many have developmental delay and learning difficulties. A mutation in the EZH2 gene is causative and occasionally there is autosomal dominant transmission.
Overgrowth Syndromes
Sotos Syndrome
Individuals with Sotos syndrome have distinctive facies (prominent forehead, hypertelorism, downslanting palpebral fissures, pointed chin), large dolicephalic head, excessive growth and learning difficulties. There is prenatal and postnatal overgrowth and disproportionately long limbs. The height velocity is increased during the first 4 years of life and is normal or height-appropriate thereafter. Adults are tall with some reaching excessive heights, but most do not require intervention to limit final height. There may be delayed motor development, delayed speech and learning difficulties, although up to 10% have no reduction in IQ. Deletions in the NSD1 gene account for the majority of cases and there may be autosomal dominant transmission.
Weaver Syndrome
This syndrome is also characterised by prenatal and postnatal overgrowth, typical facies (hypertelorism, large ears, depressed nasal bridge, downslanting palpebral fissures, broad face, dimpled chin, prominent wide philtrum, micrognathia), hypo or hypertonia, advanced skeletal maturation and camptodactyly. Many have developmental delay and learning difficulties. A mutation in the EZH2 gene is causative and occasionally there is autosomal dominant transmission.
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