Aarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies. A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ...

Aarskog syndrome is an x-linked recessive genetic disorder. This disorder affects mainly males, although females may have a milder manifestation of some of the features. It is caused by mutations in a gene called FGDY1 found on the X chromosome. Sex-linked genes are those carried on the mammalian X chromosome but not the Y chromosome. ... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ... A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ... The human X chromosome, is is one of the two chromosomes involved in the XY sex-determination system. ...

Symptoms

• mild to moderate short stature which may not be obvious until the child is between 1 and 3 years old
• possible delayed sexual maturation
• rounded face
• hairline has a "widow's peak"
• wide set eyes with droopy eyelids
• small nose with nostrils tipped forward
• underdeveloped mid-portion of the face
• wide groove above the upper lip, crease below the lower lip
• delayed eruption of teeth
• top portion of the ear folded over slightly
• small, broad hands and feet with short fingers and in-curving 5th finger
• short fingers and toes with mild webbing
• simian crease (single) in palm of hand
• protruding belly button
• inguinal hernias
• "shawl" scrotum, undescended testicles
• mild to moderate mental deficiency
• eyes have downward palpebral slant
• pectus excavatum (mildly sunken chest)

Widows-peak A widows peak is a descending V-shaped point in the middle of the hairline (above the forehead). ... Types of teeth Molars are used for grinding up foods Carnassials are used for slicing food. ... For the plant of this name, see Umbilicus rupestris. ... The scrotum (human variant shown) is a thin extension of the abdomen that contains the testes and helps regulate their temperature. ...

Signs and tests

X-rays will reveal skeletal abnormalities. Genetic testing may be available for mutations in the FGDY1 gene. Genetic counseling is indicated for individuals or families who may carry this condition. Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ... Genetic counseling generally refers to prenatal counseling done when a genetic condition is suspected in a pregnancy. ...

Treatment

Orthodontic treatment may be attempted for some of the facial abnormalities. Trials of growth hormone have not been effective to treat short stature in this disorder. Orthodontics is the specialty in dentistry that studies the alteration of the alignment of crooked teeth. ... Growth hormone is a polypeptide hormone synthesised and secreted by the anterior pituitary gland which stimulates growth and cell reproduction in humans and other vertebrate animals. ...

Support Groups

The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at www.magicfoundation.org.

Prognosis

Mild degrees of mental slowness may be present, but affected children usually have good social skills. Some males may exhibit reduced fertility.

Complications

Some recent findings have included cystic changes in the brain and generalized seizures. There may be difficulty growing in the first year of life in up to one-third of cases. Misaligned teeth may require orthodontic correction. An undescended testicle will require surgery. Seizures (or convulsions) are temporary alterations in brain function expressing themselves into a changed mental state, tonic or clonic movements and various other symptoms. ...

Source : http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm