Signs & Symptoms , Investigations & Diagnosis
Signs & Symptoms
Physical features:
• Hypotonia
• Hyper-flexibility
• Flat nasal bridge
• Low-set ears
• Protruding tongue
• High-arched palate
• Short neck with excess nape skin
• Transverse palmar creases
• Large gap between 1st and 2nd toes
Associated conditions: Cardiac:
• Atrial septal defects (most common)
• Ventricular septal defects Neurological:
• Intellectual disability
• Autism
ADHD
Aggressive behaviour
• Alzheimer’s disease
Respiratory:
• Asthma
• Obstructive sleep apnoea
Gastrointestinal:
• Atresia
• Imperforate anus
• Tracheoesophageal fistula
• Hirschsprung’s disease Endocrine:
• Type 1 diabetes
• Hypothyroidism
Haematological:
• Acute lymphoblastic leukaemia
• Acute myeloid leukaemia
• Polycythaemia
• Immune deficiency
• Transient myeloproliferative disorders
Other:
• Recurrent otitis media
• Juvenile idiopathic arthritis
• Short stature
• Obesity
Investigations & Diagnosis
Prenatal screening:
• Combined test
• Quadruple test
• Non-invasive prenatal testing (NIPT) • Karyotyping via: o Chorionic villus sampling o Amniocentesis
Postnatal screening:
• Full blood count
• Thyroid function tests Red reflex testing
Echocardiogram
• Hearing assessment
• Barium swallow assessment if feeding difficulties are present