General features

  • Neonatal macrosomia (larger than normal size of the baby for the gestational age)
  • Neonatal edema (swelling of the body due to extra fluid in the soft tissues)
  • Maternal polyhydramnios (extra amniotic fluid around the baby during pregnancy)
  • Macrocephaly (large head size)

Craniofacial dysmorphology

  • Coarse facial appearance (thickening of the facial features)
  • Epicanthal folds (extra folds of skin at the inner corners of the eyes)
  • Broad nasal bridge
  • Anteverted nostrils (nostrils are turned upward)
  • Long philtrum (long length of the space between the bottom of the nose and the top of the upper lip)
  • Wide mouth with full lips
  • Macroglossia (large tongue)
  • High or narrow palate (roof of the mouth)
  • Gingival hyperplasia (thickening of the gums)
  • Anterior open bite (inability of the front teeth to meet together when biting down)


  • Congenital generalized hirsutism (extra hair at birth all over the body)
  • Thick scalp hair
  • Thick and/or curly eyelashes
  • Excessive hair growth on forehead, face, back and limbs

Cardiovascular system

  • Cardiomegaly (enlarged size of the heart on an x-ray or ultrasound)
  • Concentric hypertrophy of the ventricles (thickening of the muscular walls of the heart)
  • Normal ventricular contractility (normal heart muscle function)
  • Pericardial effusion (fluid build-up in the sac that surrounds the heart)
  • Pulmonary hypertension (high blood pressure in the arteries of the lungs)
  • Partial pulmonary venous obstruction (blockage of the blood flow from the lungs back to the heart)
  • Mitral valve regurgitation (mitral valve does not close properly when blood is pumped out of the left ventricle of the heart and there is abnormal backwards leakage of blood flow into the left atrium)
  • Patent ductus arteriosus (persistence of the fetal connection between the aorta and pulmonary artery)
  • Bicuspid and/or stenotic aortic valve (only two flaps of the aortic valve instead of the normal 3, which can become abnormally narrowed)
  • Arterio-venous malformation (congenitally abnormal connection between an artery and a vein)

Skeletal abnormalities

  • Thickened calvarium (thick skull bone)
  • Narrow shoulders and thorax
  • Pectus carinatum (bulging outward of the sternum or “breastbone”)
  • Broad ribs (ribs appear thicker than normal on an x-ray)
  • Platyspondyly and ovoid vertebral bodies (abnormal flattened or oval shape of the bones of the spine)
  • Hypoplastic ischium and pubic bones (underdevelopment of the bones of the pelvis)
  • Erlenmeyer-flask-like long bones with metaphyseal flaring (flaring out of the ends of the long bones of the arms and legs)
  • Narrow obturator foramen (smaller opening of the hole created by the ischium and the pubic bone of the pelvis through which nerves and blood vessels pass)
  • Coxa vara (congenital deformity of the hip where the angle between the head and the shaft of the femur bone of the leg is less than 120 degrees)
  • Scoliosis (curvature of the spine)
  • Osteopenia (low density of the bones)
  • Delayed bone age (bones are less developed than what is expected for the child’s age)

Skin and joints

  • Loose and/or wrinkled skin, especially in neonates
  • Deep palmar and plantar creases (deep creases in the skin of the palms and soles)
  • Persistent fingertip pads (pointed areas of skin on the tips of the fingers, which are seen in fetuses but usually disappear by the time of birth)
  • Hyperextensibility of joints (loose joints)

Lymphatic system

  • Lymphedema, onset usually in adolescence or adulthood (swelling of areas of the body due to abnormal decreased drainage of lymph fluid from the tissues, most commonly in the legs and feet)


  • Pyloric stenosis (blockage in the first part of the small intestine just past the outlet of the stomach; requires surgical repair in infancy)
  • Increased risk for upper gastrointestinal bleeding

Other less commonly reported features

  • Immune system dysfunction or recurrent infections.
  • Umbilical hernia (incomplete closure of the opening in the abdominal wall at the site of the umbilical cord)
  • Renal anomalies (birth defects of the kidneys)
  • Genital anomalies (birth defects of the reproductive organs)