5 Interesting Facts of Aarskog syndrome
- Most disease is caused by mutation in the FGD1 gene. Inheritance is X-linked recessive, and wide phenotypic variability is common among people with the syndrome
- Some manifestations overlap with Noonan syndrome, including similar dysmorphic facial features, short stature, chest deformity, cryptorchidism, delayed puberty, and possible mild cognitive deficiency
- Other distinct features of Aarskog syndrome include widow’s peak, short nose, cleft lip and palate, inguinal hernia, dysmorphic hands and fingers, joint hyperextensibility, and possible neurobehavioral features
- Aarskog syndrome is not associated with congenital heart disease, and affected boys have a characteristic shawl (saddle bag) scrotum
- Diagnosis largely is based on clinical criteria; mutation analysis identifying distinct pathogenic variants in FGD1 associated with Aarskog syndrome may assist in definitive diagnosis
