Aarskog syndrome

5 Interesting Facts of Aarskog syndrome 

  1. 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
  2. Some manifestations overlap with Noonan syndrome, including similar dysmorphic facial features, short stature, chest deformity, cryptorchidism, delayed puberty, and possible mild cognitive deficiency 
  3. 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 
  4. Aarskog syndrome is not associated with congenital heart disease, and affected boys have a characteristic shawl (saddle bag) scrotum 
  5. Diagnosis largely is based on clinical criteria; mutation analysis identifying distinct pathogenic variants in FGD1 associated with Aarskog syndrome may assist in definitive diagnosis

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