By Dr Ananya Mandal, MD
Down syndrome or Down's syndrome, is a congenital condition that typically gives rise to characteristic facial and physical features. Individuals with this condition may also suffer from a range of associated health problems, although the severity of these problems varies between individuals.
Some of the signs and symptoms of Down syndrome include:
- Upward slanting eyes with oblique fissures
- Abnormally small chin (microgenia)
- Flat nasal bridge and small nose
- Small mouth
- Enlarged tongue (macroglossia)
- Broad head and a round face
- Single fold across the palm (called the palmar crease )
- Increased space between the first and second toe (called the sandal gap)
- Broad hand with short fingers.
- Poor muscle tone
- Joint laxity
- Growth parameters including height, weight, and head circumference are smaller in children with Down syndrome.
- Intellectual disability in most children with Down syndrome is mild (IQ 50 to 70) to moderate (IQ 35 to 50).
- Language skills and speech may be slow to develop. Reading and understanding are also delayed.
- Development of the fine motor skills may be delayed, as well as gross motor skills causing problems with sitting, standing, climbing and jumping, for example.
- Some children may also develop autism spectrum disorders or attention deficit hyperactivity disorder.
- Examples of severe conditions infants with Down syndrome may be at risk of include heart defects and intestinal abnormalities.
Reviewed by Sally Robertson, BSc
Last Updated: Apr 24, 2014