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Marfan syndrome ( MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6] [7] [1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1] They also typically have exceptionally flexible joints and abnormally curved spines. [1]
Rubinstein–Taybi syndrome ( RTS) is a rare genetic condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. [2] Other features of the disorder vary among affected individuals. These characteristics are caused by a mutation or deletion in the CREBBP gene ...
Dupuytren's contracture (also called Dupuytren's disease, Morbus Dupuytren, Viking disease, palmar fibromatosis and Celtic hand) is a condition in which one or more fingers become permanently bent in a flexed position. [2] It is named after Guillaume Dupuytren, who first described the underlying mechanism of action, followed by the first ...
Cornelia de Lange syndrome. 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.
1 in 4,000 (males), 1 in 8,000 (females) [1] Fragile X syndrome ( FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. [3] [4] Physical features may include a long and narrow face, large ears ...
Duration. Lifelong. Multiple epiphyseal dysplasia ( MED ), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate ( epiphyseal plate) near their ends. As it expands outward from the growth ...
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