A cochlear implant or auditory brainstem implant may help some who have hearing loss due to the condition.In the United States, about 1 in 3,500 people have NF1 and 1 in 25,000 have NF2. Males and females are affected equally often. In NF1, symptoms are often present at birth or develop before 10 years of age. While the condition typically worsens with time, most people with NF1 have a normal life expectancy. In NF2, symptoms may not become apparent until early adulthood. NF2 increases the risk of early death. Descriptions of the condition occur as far back as the 1st century. It was formally described by Friedrich Daniel von Recklinghausen in 1882, after whom it was previously named. Signs and symptoms
Neurofibromatosis type 1 in early life may cause learning and behavior problems – about 60% of children who have NF1 have mild difficulty in school. Signs the individual might have are as follows:
Six or more light brown dermatological spots ("café au lait spots")
At least two neurofibromas
At least two growths on the eyes iris
Abnormal growth of the spine (scoliosis)People with neurofibromatosis type 2 can exhibit the same type of skin symptoms as type 1, but not necessarily in every case. The symptom most characteristic of NF2 is hearing loss. The hearing loss occurs due to the pressure of tumors on the acoustic nerve. The same pressure can cause headaches, dizziness, and nausea.The main symptom of schwannomatosis is localized pain. This pain is due to tissues and nerves experiencing more pressure because of nearby tumors.
Deletions and mutations in the NSD1 gene is a common cause for patients with Sotos syndrome and in some cases for Weaver syndrome as well.Features distinguishing Weaver syndrome from Sotos syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep-set nails, retrognathia with a prominent chin crease, increased prenatal growth, and a carpal bone age that is greatly advanced compared to metacarpal and phalangeal bone age. Treatment
There is no cure available for Weaver syndrome. However, with multidisciplinary management such as neurological, pediatric, orthopedic and psychomotor care and genetic counseling, symptoms can be managed. Surgery may be used to correct any skeletal issues. Physical and occupational therapy are considered an option to help with muscle tone. Also, speech therapy is often recommended for speech related problems. Prognosis
With appropriate treatment and management, patients with Weaver syndrome appear to do well, both physically and intellectually, throughout their life and have a normal lifespan. Their adult height can reach 7-8 feet. Epidemiology
The incidence of Weaver syndrome is uncertain, as the causative mutation was only identified in 2011. As of December 2013, 48 cases of Weaver syndrome had been documented and confirmed. In 2012, the South West Thames Regional Genetic Service at St Georges Hospital in London, based on their detection rate among a cohort of patients within their Childhood Overgrowth Study, estimated a prevalence rate similar to that of Sotos syndrome, around 1 in 15,000. History
The condition was first described by American physician David Weaver in 1974. See also
Beckwith–Wiedemann syndrome
Perlman syndrome
Sotos syndrome

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