Dwarfism (restricted growth) is a condition that is characterized by short stature and can be caused by over 200 different factors. There are two main types of dwarfism: proportionate short stature – general lack of growth (PSS) and disproportionate short stature – the limbs are out of proportion with the rest of the body (DSS). Other problems that are common to this condition are bowed legs and an abnormally curved spine.


Proportionate Short Stature (PSS):


Genetic cause: being born from parents that have dwarfism (main cause in PSS)


The body’s inability to produce sufficient growth hormone (usually due to problems regarding the pituitary gland – a small gland below the brain that is in charge with the production of several important hormones)


It can occur in childhood if the person in cause suffers a brain injury, has a brain tumor or undergoes radiotherapy in the brain region


Other possible causes for PSS: long-term conditions that affect the lungs, heart or kidneys; steroid treatment; genetic abnormalities (such as Down syndrome, Turner syndrome, Prader-Willi syndrome); malnutrition or poor food absorption



Disproportionate Short Stature (DSS)


Caused by a damaged gene that affects the normal development of bones and cartilages


Conditions that cause DSS:


Hypochondroplasia (affects the conversion of cartilage into bone – ossification)


Mucopolysaccharide disease (lack or faulty production of lysosomal enzymes – responsible with breaking down sugar molecules)


Diastrophic dysplasia (disorder regarding cartilage and bone development associated with early joint pain and deformities)


Spondyloepiphyseal dysplasia (inherited disorder of bone growth)


Multiple epiphyseal dysplasia (skeletal malformations-primarily affecting the ends of long bones)


Pseudoachondroplasia (severe growth deficiency and deformations)


Conradi syndrome (rare genetic disorder characterized by skeletal malformations, skin abnormalities, cataract and short stature)


Ellis-van Creveld syndrome (inherited disorder characterized by short stature, polydactyly – extra fingers or toes and dental abnormalities

Symptoms and signs


Proportionate Short Stature:


Very slow growing rate for a specific age

When the condition is induced by growth hormone deficiency: low energy levels, excessive body fat, high cholesterol, weak bones and muscles

(In women) when induced by Turner syndrome: lack of a menstrual cycle, inability to have children

When induced by Prader-Willi syndrome: constant desire to eat, learning difficulties, behavioral problems and weak muscles


Disproportionate short stature:


General lack of growth; limbs are out of proportions with the rest of the body

Normal trunk length but short arms and legs

Large head, prominent forehead

Limited elbow mobility

Short neck

Arthritis and limited joint movement

Adult height ranges from 90cm to 122cm

Numbness or weakness in legs

Abnormal spine curving

Bowed legs



Restricted growth can be diagnosed before or soon after birth, depending on the cause


Available tests: growth hormone stimulation tests, blood tests, brain scans to check the pituitary gland, urine tests (to determine enzyme deficiency)


In pregnancy: ultrasound scans, amniocentesis (amniotic fluid test), chorionic villus sampling (for genetic disorders)


In the case of growth hormone deficiency, children can be helped by a supplement of the hormone which could make them grow more than they would normally do


Leg-lengthening is a surgical option, but the majority of doctors vote against it as it is a lengthy process that often leads to complications such as infections, blood clots and poor bone formation


The condition requires the help and support of several specialists, such as pediatricians, physiotherapists, dieticians, speech and language therapists, neurologists, orthopedic surgeons and geneticists

  • Dwarfism is contagious


    Dwarfism is a form of mental retardation


    Dwarfism can be cured through medication


    Dwarfism will always be inherited, thus short stature parents will have only children with this condition


    People with dwarfism cannot lead a normal life


2004: around 5 million people with dwarfism in the US; 40% of them under 21


1 in every 200,000 children is diagnosed with dwarfism

Did you know?

Proportionate Short Stature (PSS) may not be noticeable until late childhood or even puberty


Many children that are born with Disproportionate Short Stature (DSS) have parents that are of average height and the gene modification seems to happen by chance


In 2004, over 20,000 children in the US were receiving supplemental growth hormone (GH) therapy in order to overcome some form of deficiency