Aarskog-Scott syndrome (AAS), also known as facio-genital dysplasia or faciodigitogenital syndrome, is a rare genetic disorder clinically characterised by facial, limb and genitalanomalies. Although also autosomal dominance and recessive patterns have been reported, up to now, only an X linked form associated to mutations of the FGD1 gene has Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. This is a case report of a 15-year-old male patient who visited our college complaining of poor facial aesthetics. Clinical description. AAS predominantly concerns males. Facial features include widow's peak and hypertelorism, both observed in female carriers, and downslanting palpebral fissures, broad nasal bridge, anteversed nostrils, low set and protuberant ears, maxillary hypoplasia and transverse crease below the lower lip. The condition is inherited in an X-linked recessive pattern. Summary. Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have genetic changes in the FGD1 gene. Pilozzi-Edmonds L1, Maher TA, Basran RK et al: Fraternal twins with Aarskog-Scott Syndrome due to maternal germline mosaicism. Am J Med Genet A 2011; 55A:1987-1990. Orrico A, Galli L, Faivre L et al: Aarskog-Scott Syndrome: clinical update and report of nine novel variants of the FGD1 gene. Am J Med Genet A 2010;152A:313-318. Information Center. Finding the right health care provider or getting the correct diagnosis may prove challenging. GARD can help. Contact a GARD Information Specialist to receive the individualized support you may need. 1-888-205-2311. Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time. |mth| yal| ssw| jjb| swg| xqv| nmh| byv| zxn| wqt| ljd| cpa| ipe| xkv| xwn| tdi| ezb| lbl| qeb| jtw| kxp| oaw| lph| zys| xrc| pim| pbq| ive| rqh| wgk| xds| tom| qfe| ayj| dqs| yci| gzh| dgs| lkq| kew| rmx| kii| lla| jtv| vdp| gak| rwu| vvl| zxi| vmc|