GUIDELINES FOR DIAGNOSIS

As reported by Dr Angela Lin, Dr Virginia Proud and CSFN

Major Features
     Dysphagia/feeding difficulty/gastrostomy tube (g-tube) (95%)
     Postnatal short stature (97%)
     Characteristic facial features (98%)
     Thick Lips (95%)
     Loose skin (94%)
     Abnormal palmar skin creases (99%)
     DD (developmental delay)/MR (mental retardation) (100%)

Unique Features
      Congenital heart problems (65%)
             pulmonic stenosis (20%),
             hypertrophic cardiomyopathy (40%)
             atrial tachycardia (30%)
      Benign (44%) and malignant tumors (16%)
      Characteristic facial features with large mouth (78%)
      Stretchy skin with hyperpigmentation
      Kyphoscoliosis
      Engaging personality
      Curly hair
      Normal head circumference

Other Features
      Polyhydramnios (62%)
      Birth weight >50%
      Hernias (50%)
      Vision problems-ptosis and strabismus