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Diagnosis and Treatment

Clinical Features

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Aarskog-Scott Syndrome affects many parts of the body, and females generally have milder features of the syndrome. Facial characteristics of the syndrome include widely spaced eyes, a small nose, and a widow’s peak hairline. Short fingers, curved pinky fingers, and webbing of the skin between fingers are some clinical features that can affect the hands. Other potential clinical features include heart defects, cleft lip (picture), and cleft palate. Growth may be slowed during development and could thus result in short stature at young ages; however, most catch up during puberty. Shawl scrotum is a clinical feature in most males, where the scrotum surrounds the penis and less commonly, the testicles fail to descend. Intellectual development in people with Aarskog Syndrome varies greatly, ranging from normal learning and behavioral abilities to being severely impaired (1). Some other clinical features of Aarskog-Scott Syndrome include:

  • Belly button that sticks out
  • Inguinal hernia (bulge in the groin or scrotum) (picture)
  • Delayed sexual maturity
  • Delayed tooth eruption
  • Downward slant of the eyes (picture)
  • Mildly sunken chest (picture)
  • Poorly developed middle section of the face
  • Rounded face
  • Single crease in the palm of the hands (simian crease-picture)
  • Small, broad hands and feet
  • Small nose with nostrils tipped forward
  • Top portion of the ear folded over slightly
  • Wide groove above the upper lip, crease below the lower lip
  • Wide-set eyes with droopy eyelids

Source: Medline Plus (2)

Note: It is important to recognize that range of the features mentioned above are extremely variable, thus making diagnosis of the syndrome difficult (3).

Diagnosis

A diagnosis of Aarskog Syndrome is made based on the the patient’s symptoms, medical history and a full physical examination based on the characteristic facial features present in the syndrome (round face, hypertelorism antimongoloid slant of palpebral fissures, ptosis, broad nasal bridge, small nose, anteverted nares, cleft lip, maxillary hypoplasia, changing facial characteristics with age). An X-Ray may also be conducted to assess the structure of the face and skull (3,4). Genetic tests that detect mutations in the FGD1 gene can be done to confirm the diagnosis (for more information on the FGD1 gene, click here).

Differential diagnosis must be conducted to eliminate the possibility of the following conditions:

The following laboratories offer clinical gene testing for AAS. Talk to your health care provider or a genetic professional to learn more about your testing options.

Treatment

There is currently no known cure for Aarskog Scott Syndrome. However, both surgical and non surgical procedures are available to treat many of the conditions caused by the disorder.  For example, facial reconstructive procedures can reduce the visible effects of facial abnormalities including blepharoptosis, cleft lip and ocular hypertelorism. Certain facial reconstructive procedures including orbital reconstruction for ocular hypertelorism are often performed more than once between youth and adulthood because conditions worsen with growth.  Additionally, orthodontic procedures can treat facial and dental irregularities caused by the disorder, and are often needed.  Surgeries can also treat other visible conditions including inguinal hernia and undescended testicles.

Often, children with Aarskog-Scott Syndrome may suffer from mental deficiencies and will need supportive treatment such as educational assistance.  However, affected children often maintain good social skills and can live a normal life.

Examples of treatable clinical features of AAS

Strabismus (picture)

Strabismus is the misalignment of the eyes. It is usually the result of the muscles of the eyes not matching each other’s movements. Although one eye is usually pointed straight ahead, the other is turned toward a different direction (up, down, pointed out etc.). This condition is what some may refer to as “cross-eyed”. The brain usually forms images by taking information from both eyes and integrating it to make one uniform image. In the case of strabismus, the eyes do not point to the same direction, so the brain receives different images from each eye. This results in the child seeing double vision, and the brain tries to compensate for this over time by ignoring the image received from the misaligned eye. Over time, this can result in loss of depth perception and in some cases, complete loss of vision from the turned eye (6), (7).

Treatment: An ophthalmologist may prescribe patching the affected eye so that the normal eye is forced to work harder and develop normal vision. In some cases, surgery may be needed to make the eye muscles to move in a coordinated fashion. Normal vision is possible with early diagnosis and treatment (6).

Nystagmus

Nystagmus is an involuntary “to and fro” movement of the eye, which can occur in any direction (upbeat, downbeat, torsional etc.). Nystagmus can have a number of causes such as disturbances of the visual system, imbalance in the vestibular system and disturbances of the mechanisms that keep the eyes still (8).

Treatment: In some cases, nystagmus is asymptomatic and does not need to be treated. However when objects in the field appear to oscillate (oscillopsia) and result in blurred vision, there are multiple treatment options. Pharmacological treatment, depending on the type of nystagmus can dampen its effects and improve vision. There are several surgical procedures that have been used to treat infantile nystagmus syndrome but their efficacy has not yet been established. Certain forms of nystagmus can be corrected with the use of prescription glasses or contact lenses (9).

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Cleft Lip and Cleft palate (picture)(picture)

Cleft lip and Cleft palate are birth defects that affect the upper lip and roof of the mouth (respectively) that occur when the tissue of the palate and the lip do not form properly (10,11). These defects occur early during pregnancy. A cleft lip can range from a small notch on the lip to a split that extended to the base of the nose, and a cleft palate can occur on one or both sides of the palate (11). These defects can lead to a change in the appearance of the face, difficulties during feeding and speech, and ear infections (10).

Treatment: Surgery to close the cleft is performed when the child is between 6 weeks and 9 months old (done before the child is 12 months old so speech can develop properly). Additional surgery may be needed later in life as well as speech therapy and orthodontic treatment (10).

Inguinal Hernia (picture)

A lump in the groin that is caused when a weakness in the belly wall allows contents of the abdomen to be pushed through the inguinal canal (12). This could occur in AAS patients due to a weakness in the abdominal wall. There are usually no symptoms. Some people have discomfort or pain (12).

Treatment: Inguinal hernias are corrected by surgery, in which the bulging tissue is pushed back in. The abdominal wall is strengthened and supported with sutures (stitches), and sometimes mesh (12).

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Prognosis

Although Aarskog-Scott Syndrome may lead to mild degrees of mental retardation, many affected children go on to live normal lives.  Both surgical and non-surgical procedures may be required to correct the conditions caused by AAS.  Males may also have low fertility and at risk of seizures and other neurological complications.  It is important to contact your health care provider if your child has delayed growth or any of the symptoms of Aarskog-Scott Syndrome.  If you have a family history of Aarskog-Scott syndrome, you should seek more information from a genetic specialist.

Complications

Possible complications of AAS include (2):

  • Changes in the brain
  • Difficulty growing in the first year of life
  • Poorly aligned teeth
  • Seizures
  • Undescended testicle

Prevention

Unfortunately, there is no way to prevent Aarskog-Scott Syndrome. If you know you have the syndrome or have a family history of the disorder, it is advised that you see a genetics counsellor when considering having children. Your genetics counsellor is a very informative resource as he/she can provide you with information about the risk of the syndrome developing in your children and potentially even look into options of sex selection with you to possibly reduce these risks.

Organizations Related to Aarskog-Scott Syndrome

MAGIC Foundation
6645 W. North Avenue
Oak Park, IL 60302
Tel: (708)383-0808
Fax: (708)383-0899
Tel: (800)362-4423
Email: mary@magicfoundation.org
Internet: http://www.magicfoundation.org

Children’s Craniofacial Association
13140 Coit Road
Suite 517
Dallas, TX 75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643
Email: contactCCA@ccakids.com
Internet: http://www.ccakids.com

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Aarskog Syndrome Parents Support Group
62 Robin Hill Lane
Levittown, PA 19055-1411
Tel: (215)943-7131
Email: shannonfaith49@msn.com

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Hong Kong Mucopolysaccharidoses & Rare Genetic Diseases Mutual Aid Group
G/F Wang Lai House
Wang Tau Hom Estate
Kowloon,
Hong Kong
Tel: 852-2794-3010
Fax: 852 2338 4820
Email: mps@hk-mps.com
Internet: http://www.hk-mps.com/en/

References

1.          Aarskog-Scott syndrome – Genetics Home Reference [Internet]. [cited 2012 May 29]. Available from: http://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome

2.         Aarskog syndrome: MedlinePlus Medical Encyclopedi (more…)