Aarskog syndrome

Aarskog–Scott syndrome (Aarskog syndrome) is a very rare congenital hereditary disorder in which the development of certain parts of the body is disrupted; it affects height, muscles, the skeleton, the genital organs, and the appearance of the face. Intellectual development is also impaired to varying degrees. Only 20% of individuals with Aarskog–Scott syndrome have a confirmed mutation in the FGD1 gene, which is located on the X chromosome. The cause in other patients is still unknown, and the diagnosis is based on clinical presentation. The inheritance pattern is gonosomal recessive (the mutated gene is located on the X chromosome — therefore males are affected more frequently than females).

Symptoms

This disorder leads to abnormal physical appearance. Typically, an individual with this syndrome is of shorter stature, with distinctive facial features — eyes set far apart (hypertelorism), short neck, high forehead, and a small nose with nostrils facing forward. Limbs, feet, palms, and fingers are usually shorter and smaller. 

Mental development is also affected. Mild to moderate intellectual disability is common, often accompanied by hyperactivity and attention‑deficit disorders, including ADHD.

Typical for this syndrome are genital anomalies in boys — structural abnormalities of the scrotum, undescended testicles, and an abnormally positioned urethral opening. Umbilical or inguinal hernia is also frequently present.

Diagnosis

Diagnosis is most often based on clinical features; a genetic blood test can detect the known FGD1 gene mutation, but only in about 20% of patients. Genetic testing is also recommended for parents, who may be asymptomatic carriers.

Treatment

Treatment is individualized and depends on the severity of symptoms. Collaboration among various specialists and social workers is important, as well as early intervention.
Surgical treatment is necessary in cases of umbilical or inguinal hernia, undescended tesicles, or other significant structural anomalies. Otherwise, treatment is supportive and symptomatic. Stimulation programs and exercises to improve cognitive functions and mental development are beneficial — including the use of early intervention services.

• menší vzrast
• oči má ďaleko od seba
• krátky krk a vysoké čelo
• malý nos s nosnými dierkami smerujúcimi dopredu
• kratšie končatiny, ruky, chodidlá aj prsty
• zrast prstov
• mentálna retardácia (ľahká až stredná)
• hyperaktivita
• poruchy pozornosti
• genitálne abnormality u mužov - typické pre tento syndróm
• abnormálna štruktúra mieška (shawl scrotum), nezostúpené semenníky, bifid scrotum, hypospadium
• krátke články prstov (brachydaktýlia)
• atypický stredný článok malíčka (klinodaktýlia)
• vyklenutý hrudník (pectus excavatum)
• ingvinálna hernia, umbilikálna hernia
• dentálne abnormality - nevyvinutá vonkajšia vrstva zuba (enamelová hypoplázia, chýbanie zubov, oneskorené prerezávanie zubov
• častejšie bývajú chronické respiračné ochorenia
• menej časté kongenitálne ochorenie srdca
• rázštep podnebia
• strabizmus, hyperopia, oftalmoplegia
• skolióza
• sklon k priberaniu