Symptoms

Syndactyly

Syndactyly is the term used to describe joined fingers or toes.

Abnormal heart function

Abnormal heart (cardiac) function specifically associated with an unusual electrical activity.

Long QT

The heart takes longer to ‘recharge’ between beats (known as a prolonged QT interval), which can lead to an irregular heart beat rate or rhythm (arrhythmias).

Abnormal heart structure

Abnormal heart structure includes conditions such as:

• PDA (Patent Ductus Arteriosus) – a persistent opening between the two major blood vessels leading from the heart
• TOF (Tetralogy of Fallot) – a combination of 4 congenital abnormalities, including:
  • ventricular septal defect (VSD)
  • pulmonary stenosis
  • a misplaced aorta
  • thickened right ventricular wall (right ventricular hypertrophy)
• ASD (Atrial Septal Defect) – a hole in the wall between the two upper chambers of the heart

Neuronal developmental delays

Developmental delays refer to physical, social and mental difficulties. These can include:

• ASD (autism spectrum disorder)
• ADD (attention deficit disorder)
• ADHD (attention deficit hyperactivity disorder)
• OCD (obsessive compulsive disorder)
• schizophrenia

Immunodeficiencies

Immunodeficiencies affect the immune system’s ability to fight diseases in the body. This can result in frequent upper and lower respiratory tract infections.

Endocrinological dysfunction

Too much or not enough of the endocrine hormone can lead to pancreatic, adrenal and thyroid concerns.

Effects on smooth muscle

This most commonly leads to gastrointestinal issues such as constipation and irritable bowel syndrome.

Effects on skeletal muscle

This may result in including low muscle tone, also know as hypotonia.