Wiedemann-Steiner syndrome (WSS) includes distinctive facial features, growth delay, and intellectual disability. Signs and symptoms vary, but facial features may include thick eyebrows, wide-spaced eyes, and narrow eye openings.
Prognosis. There is currently no evidence that life expectancy of individuals with WSS is shortened for the majority of individuals with the disorder. Most individuals have mild to moderate intellectual disability.
Offspring of those with WSS have a 50% chance of having WSS. Wiedemann-Steiner Syndrome may be related to global developmental delays, sleeping difficulties, feeding and digestion complexities, unusual facial features, short/petite stature, hypotonia, dental issues, hairy elbows, long eyelashes, etc.
Wiedemann–Steiner syndrome (WDSTS) is an autosomal dominant disorder with a broad and variable phenotypic spectrum characterized by intellectual disability, prenatal and postnatal growth retardation, hypertrichosis, characteristic facial features, behavioral problems, and congenital anomalies involving different ...
What causes Beckwith-Wiedemann syndrome? BWS has been linked to an abnormality with chromosome 11. About 15 percent of cases are hereditary, meaning it is passed on from a parent. The other 85 percent of cases seem to occur by chance.
Most children with Beckwith-Wiedemann syndrome and isolated hemihypertrophy grow up to be healthy adults. The physical features of Beckwith-Wiedemann syndrome often become less noticeable as children grow.
Clinical Description
Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies.
The first case was reported in 1989 by Wiedemann and colleagues which reported a Caucasian boy with pre- and postnatal growth deficiency, psychomotor delay, and a round and flat face, short nose, widely spaced eyes, long philtrum, short palpebral fissures, low-set ears, and high-arched palate.
Unless a child has had untreated low blood sugar or other medical complication, there's no indication that Beckwith-Wiedemann Syndrome affects children's intellectual ability. Some children who have physical differences such as macroglossia (large tongue) that can affect speech may have some developmental delays.
Uveal Coloboma
Because it is one of the most-rare eye conditions, it is not always properly diagnosed. For this reason, the National Eye Institute estimates that Uveal Coloboma occurs in between 0.5 to 2.2 cases per 10,000 births. Coloboma is used to help describe the absence of normal tissue in or around the eye.
Some of these gene mutations are causes of known syndromes associated with autism and intellectual disability, for example, Wiedemann Steiner syndrome and Coffin-Siris syndrome.
Williams syndrome is a rare (affecting 1 in 10,000 people) developmental disorder that can affect many parts of the body, including the heart and blood vessels. Children with Williams syndrome have mild to moderate intellectual disability, distinctive facial features, and an outgoing personality.
It is classified as an overgrowth syndrome, which means that affected infants are larger than normal (macrosomia), and some may be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall.
However, most cases of WSS are caused by spontaneous gene mutations (de novo mutations), and no family history can be ascertained. There is currently no evidence that the life expectancy of individuals with Wiedemann-Steiner syndrome (WSS) is less compared to the normal population.
How common is Werner syndrome? Werner syndrome is considered to be very rare. It is estimated that 1 in 200,000 people in the United States may have Werner syndrome. Werner syndrome is somewhat more common in Japan and Sardinia in Italy, where it is estimated that 1 in 30,000 people may have the condition.
(VER-ner SIN-drome) A rare, inherited disorder marked by rapid aging that begins in early adolescence or young adulthood and an increased risk of cancer. Signs and symptoms include shorter-than-average height, thinning and graying hair, skin changes, thin arms and legs, voice changes, and unusual facial features.
Children with macroglossia have tongues that are disproportionately large for their mouths. In some cases, the tongue may protrude from the mouth and interfere with the child's tooth placement, ability to eat, and/or speech development. Macroglossia diagnosis focuses on determining its underlying cause.
People with macroglossia have tongues that are larger than typical, given the size of their mouths. Most people are born with macroglossia that can be linked to conditions such as Beckwith-Wiedemann syndrome or Down syndrome. People can also develop macroglossia from some forms of cancer or severe infections.
One of the most common features of the condition is macroglossia (large tongue size). Macroglossia can cause difficulties with feeding, speech, the development of the teeth and jaws, and increased drooling.
The most common features of BWS include macrosomia (large body size), macroglossia (large tongue), abdominal wall defects, an increased risk for childhood tumors, kidney abnormalities, hypoglycemia (low blood sugar) in the newborn period, and unusual ear creases or pits.
Smith-Lemli-Opitz syndrome is a genetic disorder that is characterized by intellectual disability and behavioral problems. Children with this syndrome often show autistic behavior such as self-injury and sensory hyperactivity.
4. Why do some indviduals with some genetic syndromes show an association with ASD? Three genetic syndromes that have commonly been reported to be associated with ASD include Fragile X syndrome (FXS), Cornelia de Lange syndrome (CdLS) and Tuberous Sclerosis Complex.
Individuals with autism have difficulties in social learning domains which typically involve mirror neuron system (MNS) activation.