Faciodigitogenital dysplasia

Faciodigitogenital dysplasia: Description, Causes and Risk Factors: Alternative Name: Aarskog-Scott Syndrome, faciodigitogenital Syndrome, Shawl scrotum syndrome. Faciodigitogenital dysplasiaFaciodigitogenital dysplasia is an inherited disorder. It is caused by a gene mutation that is passed from mothers to male children. This disease causes changes in the size and shape of certain bones and cartilage in the body. The face, fingers, and toes are most often affected. The syndrome is caused by mutation in the FGD1 gene (faciogenital dysplasia type 1) that is mapped to Xp11.21. The mutation in this gene has been also found to cause intellectual deficit without other features of Aarskog syndrome. Faciodigitogenital dysplasia is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause Faciodigitogenital dysplasia. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females who carry one altered copy of the gene may show mild signs of the condition, such as hypertelorism, short stature, or a widow's peak hairline. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. This disorder mainly affects males. Those at risk of inheriting Faciodigitogenital dysplasia are male children of: Parents with the disorder.
  • Mothers who do not have the disorder but who carry the gene for it.
Symptoms: Some common symptoms:
  • Disproportionately short stature.
  • Small, wide hands and feet.
  • Short fingers and toes.
  • A malformed scrotum.
  • Undescended testicles.
  • Underdeveloped mid-portion of the face.
  • Wide-set eyes and slightly slanted eyes with drooping eyelids.
  • Small nose.
  • Wide groove above the upper lip.
  • Crease below the lower lip.
  • Folding of the top portion of the ear.
  • Delayed teeth growth.
  • In some cases, cleft lip or palate.
Diagnosis: The doctor will ask about your symptoms and medical history. A physical exam will be done. The diagnosis of Faciodigitogenital dysplasia is usually based on facial characteristics. The diagnosis can be confirmed by x-rays of the face and skull. X-rays will reveal skeletal abnormalities. Genetic testing may be available for mutations in the gene. Treatment: There is no known treatment for faciodigitogenital dysplasia, but certain features or symptoms may be addressed with surgery, medication, or educational assistance. Treatment is limited to surgical procedures to treat conditions caused by the disorder and supportive treatment. Orthodontic treatment is often needed, as well. Researchers have located abnormalities in the FGD1 gene in people with this syndrome, and genetic testing for mutations in this gene may be available. In some cases, orthodontic treatment may help certain facial and dental abnormalities caused by the disorder. Supportive treatment generally includes educational assistance to those afflicted with mental deficiencies. Parents often need advice and supportive treatment. There is no guaranteed prevention. Prenatal testing may be available in cases where a relative has a known mutation. Disclaimer:The above information is general information. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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