Aarskog Syndrome

Summarized by Plex Health
Last Updated: 10 May 2022

Aarskog syndrome is a rare hereditary condition defined by brief stature and multiple facial, limb and genital problems. Already, the FGD1 gene on the X chromosome is the only genetics recognized to be related to Aarskog syndrome. Aarskog syndrome largely affects males. Males with Aarskog syndrome typically have a rounded confront with a wide temple. Affected people might have an abnormally long groove in the upper lip and a wide nasal bridge. These children may additionally have a range of irregularities impacting the teeth and ears. Individuals with Aarskog syndrome may have spine abnormalities such as incomplete closure of the bones of the spine column, combination of the upper bones of the spine, and underdevelopment of the peg-like estimate of the 2nd cervical vertebra. Signs that assist to make a diagnosis in males with Aarskog syndrome are the genital problems, consisting of a characteristic abnormal fold of skin expanding around the base of the penis and/or failure of one or both of the testes to come down into the scrotum. Furthermore, the urinary system opening might be located on the bottom of the penis and the scrotum may show up clefted or split. Affected people might present with a range of mild learning problem and/or behavior disorders: affected children may show developing delay throughout infancy, hyperactivity, attention impulsivity, deficit and resistance. Failure to gain weight and grow at the anticipated rate and advancement of chronic respiratory infections have been described. Extra eye irregularities may be present consisting of went across eyes, farsightedness, and paralysis of specific eye muscle mass.

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