A genetic disorder caused by the gene mutation FGD1 (faciogenital dysplasia) can result in a disorder called Aarskog syndrome, or Aarskog-Scott syndrome. Males are more prone to the disease compared with females and may exhibit many distinctive signs and symptoms such as physical and genital deformities.
Image Credit: JorgeMRodrigues / Shutterstock.com
This very rare genetic disorder is characterized by underdeveloped growth, but it is not evident until around the age of 3. Anomalies involve broad facial deformity, musculoskeletal abnormalities, genital irregularities, and a minimal intellectual disability. Often, some minor cases are not recognized and so determining the exact frequency of the affected population is difficult.
Physicians generally review the medical history of the patients and their symptoms, perform physical examination, and make use of laboratory test outcomes to arrive at a conclusion of their diagnosis.
Signs and symptoms of Aarskog syndrome
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:
- Very frequent symptoms
- Frequent symptoms
- Sporadic symptoms
- 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 of Aarskog syndrome
- Ocular hypertelorism
- Small hands and short palms
- Finger deformities
- Umbilical and inguinal hernia
- Genital abnormalities
- 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 of Aarskog syndrome
- High anterior hairline
- Broad forehead
- Slanting downwards eyelid folds (palpebral fissures)
- Psosis - droopng eyelids
- Malformation in the external ear involving thick low-set ears with fleshy earlobes
- Wide nasal bridge
- Long philtrums
- Cognitive impairment
- Hyperextensible skin
- Some or many joints have an unusually large range of movement, a condition termed as joint hyperflexibility
- Cryptorchidism, in which the testes fail to move down into the scrotum, also occurs frequently.
Sporadic symptoms of Aarskog syndrome
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 of Aarskog syndrome
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.