Weaver Syndrome

Weaver syndrome is a congenital genetic syndrome associated with rapid growth beginning in the prenatal period as well as with a specific facial appearance and certain skeletal features. It hasalso been referred to as Weaver-Williams syndrome.Weaver syndrome was first described by Dr. David Weaver in 1974. A number of different symptoms occur in Weaver syndrome, however, it primarily results in rapid growth beginning in the prenatal period and continuing through the toddler years and into the elementary school years. It is also strongly associated with the bones developing and maturing more quickly (advanced bone age), a distinctive appearing face, and developmental delay. Babies often have a hoarse low-pitched cry.

Genetic profile

Weaver syndrome is for the most part a sporadic condition, meaning that a child affected by it did not inherit it from a parent. In a very few families, autosomal dominant inheritance has been reported, which means that both a parent and his/her child is affected by Weaver syndrome. The cause of Weaver syndrome is not known and the gene(s) that are involved in it have not been identified.

Demographics

Weaver syndrome is rare. About 30 to 50 cases have been published in the medical literature. It occurs in both males and females.

Signs and symptoms

Children with Weaver syndrome tend to have large heads. The faces of children with Weaver syndrome are usually very similar to each other, more so than to other family members, and include a round face, small chin, long philtrum (groove in the midline of the upper lip), large ears, and eyes that are father apart from each other than usual. Other common symptoms include hypertonia (increased muscle tone, tight muscles) as well as hypotonia (decreased muscle tone, “floppy” muscles) and a hoarse low-pitched cry in babies.

The excessive prenatal growth often results in the newborn being large with respect to weight, length and head circumference. The rapid growth continues through the toddler and youth years with the child’s length and height often being above the 97th percentile, meaning that out of 100 children of the same age, the child is longer/taller than 97 of the children.
There is very limited information on the rate of growth through adolescence and on final height, as most of the patients diagnosed with Weaver syndrome who have been reported in the medical literature have been children. In addition, given that the condition was first described 25 years ago, long-term clinical information is just becoming available.

There are a number of other features that have been associated with Weaver syndrome. The child may have difficulty extending elbows and knees completely, fingers and/or toes may be permanently flexed (camptodactyly) or have other problems such as overlapping fingers/toes or clubfoot, and the skin may appear loose. The child may have normal or delayed development; severe mental retardation is rarely seen. Speech may be delayed and when present, may be slurred. A child with Weaver syndrome may also have behavioral problems such as poor concentration, temper tantrums, which may be related to frustrations arising from communication problems, and obsessive and repetitive patterns of play.

Read more: http://www.healthline.com/galecontent/weaver-syndrome#ixzz15A4NAZv8
Healthline.com – Connect to Better Health


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