Weaver Syndrome / Weaver-Smith Syndrome - Differentiating Features

Differentiating Features

Weaver syndrome should be differentiated from other similar syndromes like Sotos syndrome, Ruvalcaba-Myhre-Smith syndrome and Marshall-Smith syndrome.

Weaver syndrome should be differentiated from other similar syndromes that cause advanced bone age and changes in facial features. These include:

Sotos Syndrome:

• In Sotos syndrome the infants usually have normal birth weight and tend to be tall and thin in childhood. On the contrary, children with Weaver syndrome tend to have more weight both before and after birth.
• Children with Sotos syndrome have a longer face and jaw, whereas children with Weaver syndrome have a rounder face, retrognathia and a well-defined, small and dimpled chin.

Ruvalcaba-Myhre-Smith Syndrome:

Patients with Ruvalcaba-Myhre-Smith syndrome have longer faces and in addition have pigmentation on the genitalia, colonic polyps, and a positive family history of suffering from the condition.

Marshall-Smith Syndrome:

• Patients with Marshall-Smith syndrome have much thinner faces and a gaunt appearance with bulging of eyeballs, nasal abnormality, small facial bones and long, thin limbs.
• Children with Marshall-Smith syndrome show poor weight gain before as well as after birth, experience feeding difficulties with aspiration, and suffer from repeated attacks of pneumonia. They often die within 2 years of age. The children have broad middle finger bones

References:

1. Cole TRP, Dennis NR, Hughes HE. Weaver syndrome. J Med Genet 1992; 29: 332-337.
2. William T. Gibson et al. Mutations in EZH2 Cause Weaver Syndrome. The American Journal of Human Genetics 2012; 90:110�118.

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