The 11p overgrowth spectrum is defined as overgrowth and other features associated with genetic changes at a specific chromosomal region known as 11p, the same region that causes Beckwith-Wiedemann syndrome. The features of Beckwith-Wiedemann syndrome include: Large birth weight and length (macrosomia)
Beckwith–Wiedemann spectrum (BWSp; OMIM 130650) is the most common genetic overgrowth syndrome, with an estimated prevalence of 1/10,340 (31). It is classically seen with neonatal hypoglycemia, macroglossia, omphalocele, and/or visceromegaly.
Examples of overgrowth syndromes include neurofibromatosis, Sotos syndrome, Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Weaver syndrome, Proteus syndrome, Sturge-Weber syndrome, and fragile X syndrome.
Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal.
What is the average hemihyperplasia life expectancy? Most children with hemihyperplasia live healthy lives and have a typical life expectancy. While screening for cancer is important during childhood, the increased risk goes down as the child grows into an adolescent.
Children with hemihyperplasia may not show any symptoms other than a subtle difference between the two sides of the face. As overgrowth progresses, a greater difference may be seen and the overgrowth may lead to difficulty with eating, chewing seeing and breathing.
Vascular anomalies in the affected limbs are common in congenital hemihypertrophy, and neurological abnormalities and hypertrophy of the brain have been reported.
Clinical Description
Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies.
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.
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.
There is no cure for overgrowth syndromes. Treatment depends on each baby's unique symptoms and condition. In general, postnatal care may include: Physical exams, imaging and genetic testing to confirm the diagnosis.
Beckwith–Wiedemann spectrum (BWSp; OMIM 130650) is the most common genetic overgrowth syndrome, with an estimated prevalence of 1/10,340 (31).
Proteus syndrome is an overgrowth disorder caused by a rare genetic mosaicism. A genetic mutation during embryonic develop gives rise to overgrowth in a subset of the individual's cells.
Individuals with DNMT3A overgrowth syndrome may have other signs and symptoms, including a rounded upper back that also curves to the side (kyphoscoliosis ), heart defects, flat feet (pes planus ), weak muscle tone (hypotonia), or joints that are loose and very flexible (hypermobile joints ).
Symptoms of SIBO are nonspecific and include bloating, abdominal distension, abdominal pain or discomfort, diarrhea, fatigue, and weakness. The frequency and severity of symptoms likely reflect both the degree of bacterial overgrowth along with the extent of mucosal inflammation.
The overgrowth of bacteria can result in B-12 deficiency that can lead to weakness, fatigue, tingling, and numbness in your hands and feet and, in advanced cases, to mental confusion. Damage to your central nervous system resulting from B-12 deficiency may be irreversible. Weakened bones (osteoporosis).
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.
Wiedemann-Steiner Syndrome (WSS) is a rare genetic disorder resulting from mutations in the MLL (also known as KMT2A) gene on the long arm of chromosome 11. The syndrome was clinically described in 1989, but was not genetically identified until 2012 by a group of researchers in England lead by Dr. Wendy Jones.
Signs and symptoms vary, but facial features may include thick eyebrows, wide-spaced eyes, and narrow eye openings. People with WSS may also have excessive hair on the elbows, arms, and back; difficulty feeding; behavior problems; and seizures.
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.
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 ...
Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone (hypotonia). The syndrome was originally described in 1989 by Hans-Rudolf Wiedemann. The genetic basis for the syndrome was identified by Dr. Wendy D.
Hemihyperplasia is a congenital overgrowth disorder, meaning a child is born with it. In some cases, hemihyperplasia can signal a medical condition such as Beckwith-Wiedemann syndrome, which is a genetic overgrowth disorder that can cause physical malformations and tumors.
First described by Meckel in 1822,1 congenital hemifacial myohyperplasia (HMH), also known as hemihyperplasia or hemimacrosomia, is a rare condition of unknown etiology, uniformly identified by the presence of one or more facial organs displaying progressive hyperplasia.