Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Inherited means that it is passed down through families.
Alternative NamesFacial-digital-genital syndrome
Causes, incidence, and risk factorsAarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGDY1).
SymptomsMoving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.
Support GroupsThe MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at www.magicfoundation.org.
Expectations (prognosis)Some people may have mild degrees of mental slowness, but affected children usually have good social skills. Some males may have problems with fertility.
ComplicationsCall your health care provider if your child has delayed growth or if you notice any symptoms of Aarskog syndrome. Seek genetic counseling if you have a family history of Aarskog syndrome. Contact a genetic specialist if your doctor thinks you or your child may have Aarskog syndrome.
PreventionGenetic testing may be available for persons with a family history of the condition or a known mutation of the gene.
Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Inherited means that it is passed down through families.
Alternative NamesFacial-digital-genital syndrome
Causes, incidence, and risk factorsAarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGD1).
SymptomsMoving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.
Support GroupsThe MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at www.magicfoundation.org.
Expectations (prognosis)Some people may have mild degrees of mental slowness, but affected children usually have good social skills. Some males may have problems with fertility.
ComplicationsCall your health care provider if your child has delayed growth or if you notice any symptoms of Aarskog syndrome. Seek genetic counseling if you have a family history of Aarskog syndrome. Contact a genetic specialist if your doctor thinks you or your child may have Aarskog syndrome.
PreventionGenetic testing may be available for persons with a family history of the condition or a known mutation of the gene.
Reviewed ByReview Date: 11/14/2011
Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
2 genetic diorders are the sickle cell anemia,and the Tourette Syndrome i hope that is ok if it is not please tell me my username thing is hannahsbigfan
Approximately 5% of cleft conditions are associated with a genetic syndrome, including Van der Woude, Opitz, Aarskog, Fryns, Waardenburg, and Coffin-Siris.
faciodigitogenital dysplasia, a syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag or shawl scrotum, protruding umbilicus, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers
faciodigitogenital dysplasia, a syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag or shawl scrotum, protruding umbilicus, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers