Costello syndrome

5 Interesting Facts of Costello syndrome

  1. Caused by de novo heterozygous mutation in the HRAS gene; autosomal dominant inheritance may occur 
  2. Some phenotypic manifestations include similar coarse facial dysmorphology as noted in patients with Noonan syndrome, short stature, ulnar deviation at wrist, developmental delay, cardiac abnormalities (eg, pulmonic stenosis, hypertrophic cardiomyopathy), and intellectual disability 
  3. Although significant phenotypic overlap occurs with Noonan syndrome, some subtle differences may occur
    • Several more suggestive features of Costello syndrome: 
      • Facial or perineal papillomata are common
      • Supraventricular arrhythmias are common
      • Premature aging and hair loss, and increased skin pigmentation over time
      • Deep palmar and plantar creases and flexion or ulnar deviation of wrist and fingers
      • Moderate deficits in intellectual ability (as opposed to mild deficits in most Noonan patients)
      • Prenatal overgrowth is a common finding in Costello syndrome and uncommon in Noonan syndrome 
  4. Differentiate by clinical presentation and lack of pathogenic genetic variant associated with Noonan syndrome
  5. Diagnosis is largely based on clinical criteria; mutation analysis identifying distinct pathogenic variants in HRAS associated with Costello syndrome may assist in definitive diagnosis

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