About weaver-smith syndrome
What is weaver-smith syndrome?
Weaver Syndrome is characterized by rapid growth. Usually starting before birth (prenatal onset), physical growth and bone development (maturation) can occur more quickly than average. Other symptoms can include increased muscle tone (hypertonia) with exaggerated reflexes (spasticity), slow development of voluntary movements (psychomotor retardation), specific physical characteristics, and/or foot deformities. Babies with this syndrome have a hoarse low-pitched cry.
What are the symptoms for weaver-smith syndrome?
The main symptom of WS is fast growth and bone development (maturation). Children with WS may be tall, they have a normal or high weight for their height. A large head size (macrocephaly) is also common. Some children with WS may not show symptoms until several months after birth. People with WS may have muscles that get more rigid over time (hypertonia), especially in the arms and legs. However, the muscles in their core may be looser (hypotonia). Due to their rigid muscles, individuals with WS may have poor coordination. Babies with this syndrome have a hoarse and low-pitched cry.
People with WS may have eyes that are far apart (hypertelorism), extra skin over the inner corner of the eyes (epicanthal folds) or eyelids that slant down (down-slanting palpebral fissures). The back of the head (occiput) may be flat, the forehead wide and the ears larger than usual. The groove located above the upper lip and below the nose (philtrum) may be longer than average. People with WS may have a smaller jaw than normal (micrognathia). Other physical features can include thin hair, inverted nipples and loose skin.
People with WS usually have wide thumbs. One or more fingers may be permanently bent (camptodactyly). Nails may be deep-set and thin. The pads of the fingertips are usually raised. People with WS may have differences of the feet. These may include misshapen toes (clinodactyly), a very high arch of the foot (pes cavus), a clubfoot or a twisted foot (metatarsus adductus). The clubfoot may have the sole of the foot turned inward and upward towards the heel (talipes equinovarus) or towards the toes (talipes calcaneovalgus). People with WS may not be able to fully extend their elbows or knees.
Other symptoms associated with WS include varying levels of intellectual ability, from normal intelligence to severe intellectual disability. There also seems to be an increased chance for umbilical hernias and, more rarely, a type of brain cancer called neuroblastoma.
What are the causes for weaver-smith syndrome?
WS is usually caused by harmful changes (mutations) in the EZH2 gene. These harmful changes cause the EZH2 gene to work incorrectly. The function of the EZH2 gene is to turn other genes on and off in a process called methylation. The EZH2 gene’s influence on the function of many other genes explains why WS affects many body systems. However, it is not known how these changes cause the specific symptoms of WS. Some people with WS do not have a mutation in the EZH2 gene.
WS is inherited in an autosomal dominant pattern. Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular condition. In about half of patients, the non-working gene is inherited from an affected parent. In the other half, it occurs as a new (de novo) change one of the EZH2 genes in the affected individual. The chance of passing the non-working gene from an affected parent to a child is 50% for each pregnancy. The chance is the same for males and females.
What are the treatments for weaver-smith syndrome?
Treatment of WS involves management of symptoms and is supportive. Physical therapy may be helpful for rigid muscles, foot differences and bent fingers or toes. Surgery may be needed to correct problems with the fingers, toes or feet. Therapies or individual education plans (IEPs) may be helpful for children with WS.
Genetic counseling is recommended for patients and their families.
What are the risk factors for weaver-smith syndrome?
WS is a very rare disorder – only about 50 affected individuals have been identified.
Is there a cure/medications for weaver-smith syndrome?
A hereditary disorder called weaver-smith syndrome promotes rapid growth. Typically, symptoms in children begin before birth (prenatal onset). The main sign of the condition is rapid growth and bone maturation (maturation), which causes affected people to be taller than average. Other symptoms include intellectual impairment, tight limb muscles with poor coordination, and lax muscles in the core (hypotonia). Face and foot physical differences are rather typical. Babies who have this syndrome cry with a raspy, low tone.
Diagnosis for the weaver-smith syndrome
The wide-ranging growth abnormalities associated with weaver-smith syndrome could be brought on by a variety of overgrowth syndromes. Weaver-smith syndrome can be identified genetically, and a detrimental alteration in the EZH2 gene validates the diagnosis. Genetic testing may include several genes that cause overgrowth disorders because the symptoms of weaver-smith syndrome are not specific (gene panel).
After diagnosis, people with weaver-smith syndrome require numerous clinical evaluations. A neurology evaluation might spot delays and stiff muscles. Behavior problems can be found by psychologists. It is necessary to have a specialist examine you to check for heart, hand, or foot issues. The outcomes of these assessments will help determine what additional testing needs to be conducted.
Cure or Medication for the weaver-smith syndrome
1. There is no cure, but the weaver-smith syndrome is treated with supportive care and symptom management.
2. Physical therapy may be beneficial for people who have stiff muscles, unusual foot shapes, or bent fingers or toes.
3. For the treatment of issues with the fingers, toes, or feet, surgery may be required.
4. For kids with the weaver-smith syndrome, therapies or individual education plans (IEPs) may be beneficial.
It is advised that patients and their families seek genetic counseling.
Broad forehead,Widely spaced eyes (hypertelorism),Large, low-set ears,A dimpled chin, and a small lower jaw (micrognathia