How Do You Spell AARSKOG SYNDROME?

Pronunciation: [ˈɑːskɒɡ sˈɪndɹə͡ʊm] (IPA)

Aarskog syndrome is a genetic disorder that affects the physical and psychological growth of affected individuals. The word is pronounced as /ˈɑːrskɔːɡ sɪndroʊm/ in IPA phonetic transcription. The spelling of the word is derived from the surname of the Norwegian pediatrician, Dagfinn Aarskog, who first described the condition in 1970. The syndrome is also known as faciogenital dysplasia or shawl scrotum syndrome. Symptoms include facial, skeletal, and genital abnormalities, along with developmental delays and intellectual disability.

AARSKOG SYNDROME Meaning and Definition

1. Aarskog syndrome, also known as Aarskog-Scott syndrome or faciogenital dysplasia, is a rare genetic disorder primarily affecting males. It is characterized by various physical and developmental features that can vary in severity from person to person.

   The syndrome manifests with distinct facial characteristics, including a broad and round face, droopy eyelids, a wide nasal bridge, and a small nose with anteverted nostrils. Individuals with Aarskog syndrome often have a short stature, with their hands and feet being relatively broad. Additionally, they may also have mild intellectual disabilities, although intelligence can range from normal to below average.

   Genetically, Aarskog syndrome is inherited in an X-linked recessive manner and is caused by mutations in the FGD1 gene. This gene provides instructions for the production of a protein involved in normal development and growth of various body tissues. Mutations in this gene disrupt the protein's function, resulting in the characteristic features of the syndrome.

   Children with Aarskog syndrome may also have abnormalities in other parts of their body. These can include a hernia, crossed eyes (strabismus), abnormal genitalia, delayed development of motor skills, and joint and skeletal abnormalities.

   Treatment for Aarskog syndrome aims to manage the individual symptoms and may involve a multidisciplinary approach depending on the specific needs of the patient. This can include orthopedic interventions for skeletal abnormalities, speech and occupational therapy for developmental delays, and surgical correction of certain physical features. Genetic counseling is also recommended for affected families.

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Etymology of AARSKOG SYNDROME

The term "Aarskog syndrome" is named after Dagfinn Aarskog, a Norwegian pediatrician who first described the syndrome in 1970. It is also known as Aarskog-Scott syndrome in recognition of Charles I. Scott, an American geneticist who independently reported cases of the syndrome. Therefore, the word "Aarskog" in "Aarskog syndrome" is a surname, indicating the physician who identified and studied the condition.

Plural form of AARSKOG SYNDROME is AARSKOG SYNDROMES