About faciodigitogenital syndrome

What is faciodigitogenital syndrome?

Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild intellectual disability.

What are the symptoms for faciodigitogenital syndrome?

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:

Broad foot, broad palm, camptodactyly of a finger, everted lower lip vermilion, hypertelorism, shawl scrotum, Short foot, Short palm, Short stature, small hand, umbilical hernia, anteverted nares, etc. 

What are the causes for faciodigitogenital syndrome?

Aarskog syndrome is a genetic disease, which means that it is caused by one or more genes not working correctly.

Disease causing variants in the following gene(s) are known to cause this disease: FGD1

What are the treatments for faciodigitogenital syndrome?

Since there is currently no permanent treatment for Facio Digito Genital syndrome, care is offered to enhance quality of life. A specialized team of healthcare professionals is needed to give a synchronized treatment for the patient's distinctive anomalies and associated symptoms:

1. Therapy of strabismus is used for disorders where the eyes are positioned erratically, impairing vision. In order to restore normal vision to the lazy eye, the healthy eye is patched.

2. Anomalies like facial deformity, cleft palate, and genital deformities are treated surgically.

3. Treatment with growth hormones is frequently used to increase a person's height. Studies demonstrate that people with ASS who received GH saw a rise in height without any negative side effects. Here, particular GH doses are given over a duration of six months to two years at predetermined intervals.

4. People with intellectual disabilities get auxiliary therapies, such as educational support. Parental genetic counseling may be necessary.

5. Aarskog-Scott Syndrome can also be treated using orthodontics, which is a gradual process that entails wearing braces to move the crooked teeth into the proper alignment.

6. Similar to how it is for every other orthodontic patient, therapy is administered. The dental brackets are initially made by the professional using the dental blueprint, and they are then fastened to the teeth.

Symptoms
Short stature,Decreased bone age,Widely spaced eyes,Small nose,Shawl scrotum,Short fingers,Curved fingers
Conditions
Different parts of the body get affected for example: muscles, height, genitals, etc,Heart related issues,Seizures,Reduced fertility
Drugs
Somatropin,Sermorelin Acetate,Antihistamines,Acetaminophen,Surgery

Is there a cure/medications for faciodigitogenital syndrome?

Yes, Facio Digito Genital syndrome Or Aarskog Syndrome is a genetic disorder that is partially curable. The treatment focuses on symptom management and avoiding complications. Since the disease impacts the physical features, psychiatric counseling may be required as well.

1. FGD1: Aarskog syndrome is usually diagnosed using a genetic test for the FGD1 gene. Once diagnosed, treatment focuses on correcting some of the anomalies.

2. Surgery to treat abnormalities: In some cases surgeries are recommended so that the abnormalities can be treated.

3. Orthodontic treatment: This is used to correct some of the abnormal facial features caused by Facio Digito Genital syndrome. Not only this but Facial surgery can be used to rectify congenital skeletal flaws or muscle and neck injuries. General sedation is required for similar treatments.

4. Growth hormone trials: GHT have yielded promising results in the treatment of short stature (height).

5. X-rays: This is another way to diagnose Facio Digito Genital syndrome.

Symptoms
Short stature,Decreased bone age,Widely spaced eyes,Small nose,Shawl scrotum,Short fingers,Curved fingers
Conditions
Different parts of the body get affected for example: muscles, height, genitals, etc,Heart related issues,Seizures,Reduced fertility
Drugs
Somatropin,Sermorelin Acetate,Antihistamines,Acetaminophen,Surgery

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