DiGeorge syndrome (22q11.2 deletion syndrome) is a disorder caused by a defect in chromosome 22, resulting in poor development of several body systems. COVID-19 updates See how we're providing safe in-person care and virtual visits.
Kleefstra syndrome (Ks) is a rare genetic disorder characterised by intellectual disability, often accompanied by a spectrum of complex physical and clinical features. The Kleefstra syndrome community stretches rights across the world and is growing. Kleefstrasyndrome.org exists to offer support, education and awareness of this rare condition.
Turner syndrome (TS) is a rare genetic condition in which a girl or woman doesn’t have the usual pair of 2 X chromosomes. The cause is a missing or incomplete X chromosome (the chromosome that determines a person’s sex before birth).
Smith-Kingsmore Syndrome Foundation. Whether you’re a parent or family member seeking more information to help your child with Smith-Kingsmore syndrome, a supportive friend, a doctor, or a researcher, you’ve come to the right place. We hope you find the information here useful, and that you’ll join our growing community. Welcome!
Williams syndrome (WS) is a rare disorder caused by a microdeletion of 17 genes on one copy of chromosome 7q11.23. WS results in an unusually uneven cognitive profile. Language and face processing are seemingly spared, whereas other higher cognitive functions (spatial cognition, number, planning, and problem solving) are seriously impaired.
Prader-Willi syndrome is a rare genetic condition that causes a wide range of physical symptoms, learning difficulties and behavioural problems. It's usually noticed shortly after birth. Symptoms of Prader-Willi syndrome. Typical symptoms of Prader-Willi syndrome include.
Noonan Syndrome Life expectancy Life expectancy depends on the complications involved during the life of an individual with this syndrome as well as the severity of those complications. Limited studies of health-event patterns submit that life expectancy is reduced by approximately 10 years.
Trisomy 21 is the most common chromosomal anomaly in humans, affecting about 5,000 babies born each year and more than 350,000 people in the United States. Also known as Down syndrome, trisomy 21 is a genetic condition caused by an extra chromosome. Most babies inherit 23 chromosomes from each parent, for a total of 46 chromosomes.
Williams Syndrome.Apps That Can Help Issuu is a digital publishing platform that makes it simple to publish magazines, catalogs, newspapers, books, and more online. Easily share your publications and get them in front of Issuu’s millions of monthly readers.
Shone syndrome is a collection of eight left-sided obstructive heart lesions. These affect blood flow to and from the left ventricle, or lower left heart chamber. Shone syndrome was identified by Dr. John Shone in 1953. He described four lesions. Now, eight lesions are considered part of Shone syndrome.
What Is Hunter Syndrome (MPS II)? Hunter syndrome, also called mucopolysaccharidosis II or MPS II, is a rare disease that's passed on in families. It mainly affects boys.
Giunta C, Rohrbach M, Fauth C, Baumann M. FKBP14 Kyphoscoliotic Ehlers Danlos Syndrome. In: GeneReviews (Internet), Pagon RA, Bird TD, Dolan CR, et al (Eds), University of Washington, Seattle 1993-2019. Giunta C, Superti-Furga A, Spranger S, et al. Ehlers-Danlos syndrome type VII: clinical features and molecular defects.
Sanfilippo syndrome was first described in 1963 by Dr. Sylvester Sanfilippo and is considered rare, with an occurrence of 1 in every 70,000 births. It is an autosomal recessive hereditary disorder, which means, both parents must be carriers in order for the child to be affected. There is a one in four chance of having a child born with.
Williams syndrome is a genetic condition that is present at birth. It is characterized by developmental delay, learning difficulties, a unique personality-type that combines high sociability (over-friendliness) and high levels of empathy with anxiety. People with Williams syndrome have a typical fac.
Goldenhar syndrome is a craniofacial syndrome, which means that it causes certain abnormalities in the formation of the face and head. It is considered a rare disease and a congenital one, meaning.Sanfilippo is a rare genetic condition that causes fatal brain damage. It is a type of childhood dementia and most patients never reach adulthood. But there is hope. Researchers around the world are working hard to find effective treatments.Unique is a small charity supporting, informing and networking with families living with a Rare Chromosome Disorder or some Autosomal Dominant Single Gene Disorders associated with learning disability and developmental delay, among other symptoms. Sound like your family? Do take time to explore our site, especially the Families area.