Aarskog Syndrome is a genetic disorder caused by mutations to the FGD1 gene and typically found among male offspring, though some female carriers also may exhibit symptoms of this condition. Aarskog Syndrome typically manifests itself with height loss, muscles atrophy and bone fractures as well as abnormalities to bones and genitalia – although female carriers can have it too.
People diagnosed with Aarskog Syndrome commonly display short fingers (brachydactyly), curved pinkies (fifth finger clinodactyly), and webbing between some fingers (cutaneous syndactyly). They may also exhibit soft bulges around their belly button (umbilical hernia) or in their lower abdomen (inguinal hernia), widely spaced eyes, a long area between nose and mouth (philtrum) as well as having widow’s peak hairlines as other anomalies.
Characteristics
Aarskog Syndrome is an inherited disorder that may negatively impact your child’s stature, facial features, genitalia and muscles. It’s caused by mutations on the FGD1 gene which links back to an X chromosome. Males are more likely to inherit this genetic condition than females do due to having one less X chromosome than they have two Xs.
Children diagnosed with Aarskog Syndrome tend to exhibit underdeveloped growth and distinctive facial and genital features, but typically their growth returns to normal after puberty. Aarskog Syndrome is marked by underdeveloped bone structure that may lead to deformities in hands, feet and other parts of the body; its impact also extends into skin, tendons and muscles, with even occasional effects felt within the heart – although these cases tend to be rarer.
Aarskog Syndrome is most easily recognized by its low to medium height, most notably seen among toddlers and preschool-aged children. Unlike other genetic conditions that cause short stature, Aarskog does not hinder intellectual development.
Other symptoms may include wide, spaced eyes (hypertelorism), an extended area between nose and mouth (philtrum), widow’s peak hairline and jawline that is slightly wider than usual, with fifth finger tending to curve more than usual; small chin size and forehead depressions (hypotelorism).
Males affected by Aarskog Syndrome typically display a shawl scrotum, or an area of fat surrounding the penis instead of hanging beneath it, that stands out. They may also exhibit undescended testes or an umbilical hernia.
Tyrkus et al. (1980) reported on a mother and son pair with Aarskog Syndrome and found that one X chromosome in mother had become inactivated, with breakpoint located at Xq12. Bawle et al. (1984) confirmed this observation by finding a balanced X autosome translocation whose breakpoint lay within Xq12.
Diagnosis
Aarskog Syndrome is an X-linked genetic condition characterized by short stature, abnormal facial features and skeletal or genital anomalies caused by mutations to the FGD1 gene. While most commonly seen among males, mild symptoms may also manifest themselves in females.
FGD1 gene is located on the X chromosome and plays an essential role in normal growth and development. When born with an FGD1 mutation, cell differentiation becomes disrupted, leading to abnormally short or wide bones as well as more sensitive muscles and skin tissue formation and production. Furthermore, breathing difficulties or mobility impairment may occur from abnormal skeletal deformation.
Aarskog Syndrome is a rare and complex disorder, making diagnosis challenging. Doctors will typically perform a physical exam and review family medical histories before making their initial diagnosis of Aarskog Syndrome. When conducting such exams they look at child height, head circumference, skeletal structure, genitalia as potential indicators.
Doctors also evaluate children’s mental development. IQ tests can assist doctors in this assessment and use test results to identify children who require further evaluation or treatment.
Signs of Aarskog Syndrome in young children often include receding hairlines or the presence of wide skulls, short fingernails, wide feet and an increased tendency to bruise easily. If these characteristics exist in your child, seek medical advice immediately.
Aarskog Syndrome is typically passed down X-linked recessively; however, Pilozzi-Edmonds et al reported two fraternal twin brothers with Aarskog Syndrome who both carried truncating mutations of FGD1 gene; their identical phenotype indicated a link between genotype and phenotype in Aarskog Syndrome; this observation suggests maternal germline mosaicism as one possible explanation.
Treatment
Treatment options for Aarskog Syndrome depend on its severity in each case, as this condition may manifest as various anomalies including facial features, genital area anomalies, muscle and bone abnormalities. FGD1 gene mutations cause Aarskog Syndrome to mostly affect males although some females may also show mild features of it; inheritance follows an X-linked recessive pattern.
There is no cure for Aarskog Syndrome; however, symptoms can be treated in order to enhance quality of life and manageability. Patients suffering from the disorder should be under the care of a team of health professionals with experience treating patients who suffer from this disorder; such professionals could include surgery, physiotherapy or growth hormone therapy treatments as these may help achieve more normal height and weight in those affected by Aarskog Syndrome.
Aarskog Syndrome is an uncommon genetic condition characterized by facial, skeletal and genital anomalies that include short stature, broad nasal bridge, small eyes with drooping ears that fall downward when sitting or lying down, short neck length, maxillary hypoplasia with cleft lips/palettes as well as shawl scrotums.
Treatment options for Aarskog Syndrome may include orthopedic interventions, bracing, and surgical correction of any skeletal abnormalities. Psychological services may be required to address any emotional or behavioral problems associated with the disorder. Individuals diagnosed with Aarskog Syndrome should also receive physical and speech therapy sessions in order to overcome any obstacles caused by their condition.
Patients and families living with Aarskog Syndrome may benefit from genetic counseling to understand its inheritance patterns and inheritance pathways. Prenatal testing may also help predict if future pregnancies will be affected by the disorder – thus decreasing risks such as cleft lips and palate, inguinal hernias or undescended testicles that might otherwise arise during gestation.
Preventative measures
People diagnosed with Aarskog Syndrome can be identified through clinical observation of facial and genital abnormalities as well as short stature. X-rays may reveal additional distinctive features. This disorder is passed from one parent to the offspring, most frequently boys over girls; mutations occur on X chromosome gene FGD1 due to mutations. Sometimes other genetic conditions also co-occur.
People living with Aarskog Syndrome usually don’t live long lives, suffering from various health issues throughout their life such as heart defects and cancers. While symptoms of Aarskog Syndrome can range from mild to severe, those who suspect having this disease should seek medical advice immediately – seeking diagnosis quickly is paramount to survival.
Aarskog Syndrome symptoms result from both genetic and environmental influences. It’s an inherited disorder which manifests itself by altering height, muscles, bones, genitals and facial appearance; most commonly seen among males; however mild symptoms may also appear in females affected. Aarskog Syndrome occurs as the result of mutation in the FGD1 gene.
Common symptoms of Aarskog Syndrome include wide, deep foreheads and wide, squinting mouths; excessive separation between medial canth tendons of their eyes (blepharophimosis); shawl scrotums are another characteristic; men with Aarskog Syndrome often have undescended testes (cryptorchidism); in rare instances they may also exhibit umbilical hernias or weak spots in their lower abdomen that result in inguinal hernias.
People diagnosed with Aarskog Syndrome tend to have normal IQ scores, although their intellectual development can vary considerably. Many are unable to work and some suffer mild-moderate mental disabilities; environmental influences could possibly impact on severity; however this has yet to be proven; Sugarman et al conducted a study involving two half brothers and their mother all suffering from this condition, showing no relationship between genotype expression and disease expression.