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News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… team of researchers has identified genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare congenital myopathy … disease 35 years after it was first described by Dr. John Carey and colleagues from the University of Utah," said … (multinucleated muscle cells) during myogenesis. In Carey-Fineman-Ziter syndrome, this cascade is disrupted because of …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… data-cke-saved-href="http://uugpgc.genetics.utah.edu/john-c-carey/" … and named the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). Thirty-five years later, researchers … In 1982, John Carey, M.D., and his colleagues named the rare disease, …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. … Velocardiofacial syndrome (VCFS) is a genetic condition that is sometimes … and speech and feeding problems. The name velocardiofacial syndrome comes from the Latin words 'velum' meaning palate, …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane syndrome (DS) is a miswiring of the eye muscles, causing some … Other names for this condition include: Duane's Retraction Syndrome (or DR syndrome), Eye Retraction Syndrome, Retraction Syndrome, …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… Syndrome … A syndrome is a collection of recognizable traits or … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to genetics, is a group of traits or … A syndrome is a collection of recognizable traits or …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in … information of diverse people with Williams-Beuren Syndrome to the atlas , healthcare providers will better … medical care. They assessed people with Williams-Beuren Syndrome from African, Asian and Latin American countries, …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Down syndrome is a chromosomal condition related to chromosome 21. … People who have Down syndrome have learning difficulties, mental disability, a … muscle tone (hypotonia) in infancy. Individuals with Down syndrome also have an increased risk for having heart … disease, and hearing loss. Some people who have Down syndrome have low activity of the thyroid gland …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Fragile X syndrome is an inherited intellectual disability caused by a … Fragile X syndrome is the most common form of inherited intellectual … racial and ethnic groups. Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the FMR1 … from 5 to about 40 times. In people with fragile X syndrome, however, the CGG segment is repeated more than 200 …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… Turner syndrome is a chromosomal condition that alters development … Turner syndrome is a chromosomal condition that alters development … this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), … not survive to term (miscarriages and stillbirths). Turner syndrome is a chromosomal condition related to the X …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… Klinefelter syndrome is a condition that occurs in men as a result of an … Klinefelter syndrome is a condition that occurs in men as a result of an … characteristics of their gender. Most often, Klinefelter syndrome is the result of one extra X (written as XXY). …