Overview
Aarskog syndrome is a rare genetic condition characterized by short stature and multiple facial, limb and genital abnormalities. Additionally, some types of cognitive disorders may occasionally be present. Up to now, the FGD1 gene on the X chromosome is the only gene known to be associated with Aarskog syndrome.
Signs and symptoms
The symptoms vary across patients. However, based on the frequency of the appearance of the symptoms we can classify the signs and symptoms of the syndrome into four categories:
1.Very frequent symptoms
2.Frequent symptoms
3.Sporadic symptoms
4.Individualized symptoms
When 80%–99% of the patients produce a symptom, it can be under the very frequent symptom category. Symptoms shared by about 30%–79% of patients are categorized as frequent symptoms. Symptoms seen in fewer patients - 5%–29% - are grouped as sporadic symptoms. Some patients have reported symptoms that are very specific to them, and they are called individualized symptoms.
Very frequent symptoms
1.Ocular hypertelorism
2.Small hands and short palms
3.Finger deformities
4.Umbilical and inguinal hernia
5.Genital abnormalities
6.Broad and short feet
Hypertelorism, in particular, ocular hypertelorism is where a wide gap between the eyes is noticed in patients. Small hands and short palms are also typical symptoms. Camptodactyly, a condition where a finger is bent, is very frequent. Fifth finger clinodactyly, the permanent bent position of the fifth finger, and finger syndactyly, where two or more fingers are clubbed together, are also common symptoms.
Umbilical hernia—a swelling in the navel or near the navel surface - is most frequent; however, inguinal hernia is also a frequent symptom where swelling can appear in the groin and the scrotum can appear enlarged. Genital abnormalities include shawl scrotum where an abnormal skin fold covers the penis. Broad and short feet are also very frequent symptoms.
Frequent symptoms
1.High anterior hairline
2.Broad forehead
3.Slanting downwards eyelid folds (palpebral fissures)
4.Psosis - droopng eyelids
5.Malformation in the external ear involving thick low-set ears with fleshy earlobes
6.Wide nasal bridge
7.Long philtrums
8.Cognitive impairment
9.Hyperextensible skin
10.Some or many joints have an unusually large range of movement, a condition termed as joint hyperflexibility
11.Cryptorchidism, in which the testes fail to move down into the scrotum, also occurs frequently.
Sporadic symptoms
Round face and a shorter neck; epicanthic folds; maxillary hypoplasia, which causes several facial abnormalities; and single transverse palmar crease may be seen in some patients.
Vision abnormalities such as crossed eyes or strabismus, an eye condition in which the individuals may not be able to align both the eyes together while focusing objects; enlargement of the cornea that is not progressive; and megalocornea are sporadic.
A cleft lip, a split or vertical groove in the upper lip, and cleft palate, where the closure of the roof of the mouth will be incomplete, may also occur. Teeth missed at birth, very slow development of teeth, and enamel hypoplasia (EHP) are some of the dental abnormalities that may occur occasionally.
Malfunction of cardiovascular system morphology; funnel chest or pectus excavatum, where the breast bone is sunken and the middle of the chest appears to be hollow; congestive heart failure; Genu recurvatum, an extension of the knee which is larger than 5 degrees; a foot deformity such as Pes planus or flat foot, where the longitudinal arch of the foot is flat; and talipes are some of the symptoms that are witnessed occasionally.
Individualized symptoms
Widow's peak, suppressed hair growth in the forehead; ocular symptoms such as hyperopia or farsightedness; ophthalmoplegia, a condition in which some of the muscles in the eye or adjacent to the eye are paralyzed; short nose with forward flared nostrils; and broad philtrum are also witnessed in some patients.
While in some individuals finger joints are hyperextensible, there are cases of Brachydactyly syndrome, a group of limb deformities where the fingers and toes are very short. Some types of brachydactyly syndrome can lead to a short stature.
In some patients, extra pairs of ribs are also present. Conditions such as spina bifida occulta, where the bones of the spinal cord and the surrounding membrane are not closed properly; malfunction of cervical vertebrae such as upper bones fusion; odontoid hypoplasia in which the cervical vertebrae can be misaligned; and scoliosis, where the twists and curvature of the spine to the side are abnormal, are some of the spine related abnormalities seen in some patients.
Some children were diagnosed for hyperactivity, failed to gain weight and grow at an expected rate, experienced delayed puberty, and suffered from chronic infections to the respiratory system.
Treatment
Facial and dental irregularities are corrected by orthodontic treatment. Surgical procedures are carried out to treat anomalies like cleft lip or palate and genital defects. Growth hormone (GH) treatment is given to correct growth retardation in stunted people. Genetic counseling may be required for the parents.
What does Aarskog syndrome do?
Aarskog syndrome is a very rare disease that affects a person's height, muscles, skeleton, genitals, and appearance. It can be passed down through families (inherited). The physical landmarks of the human face are very similar from one face to another.
Is there a cure for Aarskog syndrome?
There is no exact cure for Aarskog syndrome; however, medication helps ease the symptoms and other eye, ear, or dental issues. In some cases, surgery is required for inguinal hernia, cleft lip or palate, or undescended testicles condition.
Is Aarskog syndrome a disability?
Most individuals with Aarskog-Scott syndrome have normal intelligence; however, some may have mild learning and behavior problems, and in rare cases, severe intellectual disability has been reported.
Causes
A mutation of the FGD1 gene, otherwise known as the faciogenital dysplasia 1 gene, is the cause of this syndrome. This gene is located in the arm structure (at Xp11.21 position) of the X-chromosome and thus it is considered an X-linked inherited disorder.
Diagnosis
Most signs of Aarskog syndrome are visible from the time of birth. Persons with this syndrome have typical facial abnormalities, which is diagnostic in most cases. Changes are commonly seen in the lower, middle, and upper portions of the face. For example:
1.widow’s peak hair (scalp hair growth in the center of the forehead)
2.excessive distance between the eyes, known as ocular hypertelorism
3.expanded width of the forehead
4.descending slant of the opening of the eye
5.drooping of the eyelids
Aarskog syndrome diagnosis for children is done by examining of these facial changes as well as other genital and skeletal features. The physician might execute a full-body examination for the child. The family medical history also plays a vital role in diagnosis of this disease. If a child is suspected to have Aarskog, the doctor may advise for a genetic test to identify the mutation in the child’s FGD1 gene.
This test is only available in research laboratories. X-rays also help in determining the severity of the disease.
In rare cases, families tend to notice the hereditary occurrences of Aarskog syndrome. In such cases ultrasound examination of feet, face, and hands is done to identify the disease. Clinically, this is not widely used because the syndrome does not have any medical severities.
Characteristics
Does Aarskog-Scott syndrome affect the brain?
Most individuals with Aarskog-Scott syndrome have normal intelligence; however, some may have mild learning and behavior problems, and in rare cases, severe intellectual disability has been reported.
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