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Specialty. Medical genetics. Cornelia de Lange syndrome ( CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.
The gene linked to the disease was first identified by Francesco Ramirez at the Mount Sinai Medical Center in New York City in 1991. Famous patients. Notable people who have or had Marfan syndrome include: Isaiah Austin; Javier Botet; Austin Carlile; Bradford Cox; Euell Gibbons; Emmanuel Giroux [citation needed]
Wilson's disease; Other names: Wilson disease, hepatolenticular degeneration: Boy with Wilson's disease: Specialty: Gastroenterology: Symptoms: Swelling of the legs, yellowish skin, personality changes: Usual onset: Age 5 to 35: Causes: Genetic: Differential diagnosis: Chronic liver disease, Parkinson's disease, multiple sclerosis, others ...
7 to 12 per 100,000 [2] Tuberous sclerosis complex ( TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
North Lebanon Township resident Heidi Edwards has seen her family devastated by the rare genetic disease ALSP over the last 20 years.
Mandy Sellars (born 20 February 1975 in Lancashire, United Kingdom) is a British woman with a rare genetic mutation that has resulted in extraordinary growth in both of her legs. In 2006, some doctors diagnosed Sellars as having Proteus syndrome, a very rare condition thought to affect only 120 people worldwide, [1] but more recent diagnoses ...
Frequency. ~1 in 1,000 males [1] XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. [1] There are usually few symptoms. [2] These may include being taller than average and an increased risk of learning disabilities.
There are over 6,000 known genetic disorders in humans. Most common [ edit ] Human karyotype with annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities .
An estimated 2–5% of congenitally deaf people have Waardenburg syndrome. Descriptions of the syndrome date back to at least the first half of the 20th century, however it is named after Dutch ophthalmologist and geneticist Petrus Johannes Waardenburg, who described it in 1951.
Specialty. Medical genetics. Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. [2]