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Elfin Facies
Elfin (Elven) facies is a form of facies where the patient presents with facial characteristics bearing some similarities to those traditionally associated with elves. It is characterized by prominent forehead, widely spaced eyes, upturned nose, underdeveloped mandible, dental hypoplasia, and patulous lips. It can be associated with Williams syndrome or Donohue syndrome Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder. ''Leprechaunism'' derives its name from the hallmark elvish features (small stature, bulging eyes, thick lips, and upturned nostrils) exhibited by the ... (which is also known as leprechaunism). References Medical signs {{med-sign-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Facies (medical)
In medical contexts, a facies is a distinctive facial expression or appearance associated with a specific medical condition. The term comes from Latin for "face". As a fifth declension noun, ''facies'' can be both singular and plural. Types Examples include: * Hippocratic facies – eyes are sunken, temples collapsed, nose is pinched with crusts on the lips, and the forehead is clammy * Moon face (also known as "Cushingoid facies") – Cushing's syndrome * Elfin facies – Williams syndrome * Potter facies – oligohydramnios * Mask like facies – parkinsonism * Leonine facies – lepromatous leprosy or craniometaphyseal dysplasia * Mitral facies – mitral stenosis * Amiodarone facies (deep blue discoloration around malar area and nose) * Acromegalic facies – acromegaly * Flat facies – Down syndrome * Marfanoid facies – Marfan's syndrome * Snarling facies – myasthenia gravis * Myotonic facies – myotonic dystrophy * Torpid facies – myxoedema * Mouse facies ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Williams Syndrome
Williams syndrome (WS) is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. Mild to moderate intellectual disability is observed in people with WS, with particular challenges with visual spatial tasks such as drawing. Verbal skills are relatively unaffected. Many people with WS have an outgoing personality, an openness to engaging with other people, and a happy disposition. Medical issues with teeth, heart problems (especially supravalvular aortic stenosis), and periods of high blood calcium are common. Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically, this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases, it is inherited from an affected parent in an autosomal dominant manner. The differen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Donohue Syndrome
Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder. ''Leprechaunism'' derives its name from the hallmark elvish features (small stature, bulging eyes, thick lips, and upturned nostrils) exhibited by the affected individuals. The disease is caused by a mutation in the INSR gene, which contains the genetic information for the formation of insulin receptors. As a result, affected individuals have either a decreased number of insulin receptors, or insulin receptor with greatly impaired functionality. The lack and impairment of insulin receptor functionality leads to an inability to regulate blood glucose levels through severe insulin resistance. This will ultimately lead to affected development of tissues and organs throughout the body. In addition to the physical abnormalities, leprechaunism is also characterized by endocrine system abnormalities that can lead to conditions such as hyperglycemia (high blood glucose levels), hypoglycemia (low ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
