What are the symptoms of Aarskog syndrome?
Last updated September 6, 2026.
**Aarskog syndrome most often shows up as short stature, widely spaced eyes and other facial features, short broad hands with very flexible joints, and genital differences such as a shawl scrotum or undescended testicles.** The condition is usually caused by changes in the FGD1 gene and is inherited in an X-linked pattern, so boys tend to have the full picture while girls who carry the change often have only mild features such as slightly wider spaced eyes or short fingers. Height is usually normal at birth, and slowed growth becomes noticeable in early childhood before a growth spurt in the teen years brings many people closer to the lower end of the adult range. Most children have normal intelligence, though some have mild learning difficulties or attention problems. Dental crowding, delayed tooth eruption, and repeat ear infections are common practical issues. Tracking your child's height on a growth chart at every checkup is the single most useful habit, since a falling growth curve is what usually prompts testing.
What to do
- Plot growth first: Ask for your child's height, weight, and head size to be plotted on a standard growth chart at every visit so a slowing curve gets caught early.
- Bring photos and family history: Childhood photos of parents and siblings and notes on who else is short or had a hernia help a geneticist see the X-linked pattern.
- Ask about genetic testing: FGD1 gene testing confirms the diagnosis in many families and clarifies whether other relatives are carriers.
- Check the groin in boys: Undescended testicles and inguinal hernias are common with this condition and both need a surgical opinion rather than watchful waiting alone.
- Book dental and eye visits: Crowded or delayed teeth and drooping eyelids that block vision are treatable, so schedule a pediatric dentist and an eye exam.
- Get urgent care for these: A painful, firm, or bulging groin lump, vomiting with a swollen belly, or a neck injury with weakness or tingling needs same-day medical care.
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