Dwarfism

Dwarfism (short stature from a medical cause) describes adult height less than about 147 cm (4 feet 10 inches). It has many causes. The commonest cause of disproportionate short stature is achondroplasia — a genetic condition affecting bone growth. Most people with dwarfism live full, healthy lives; specific medical issues deserve attention.

Main groups

• Disproportionate dwarfism — trunk and limbs grow at different rates. Achondroplasia is the commonest. Others: hypochondroplasia, diastrophic dysplasia, spondyloepiphyseal dysplasia.
• Proportionate short stature — body parts in proportion. Causes include pituitary growth hormone deficiency, Turner syndrome, poor nutrition, chronic illness, some chromosomal disorders.

When to evaluate short stature in a child

• Height below the 3rd centile or below 2 standard deviations for age.
• Poor growth velocity (dropping across the growth chart).
• Disproportion of trunk and limbs.
• Associated features — vision/hearing issues, joint problems, facial features, delayed puberty, intellectual disability.
• Family history of short stature or skeletal dysplasia.
• A paediatric endocrinologist and/or clinical geneticist guide evaluation.

Evaluation

• Growth charting, bone age X-ray, skeletal survey if disproportion.
• Blood tests — thyroid, growth-hormone workup, IGF-1, karyotype (especially girls for Turner), coeliac screen.
• Genetic testing for specific suspected conditions.
• Review of nutrition and chronic illness.

Treatment and support

• Growth hormone deficiency — growth hormone therapy; close monitoring.
• Turner syndrome — growth hormone + oestrogen at appropriate time.
• Nutrition, underlying illness management — often resolves 'short stature' considered idiopathic.
• Skeletal dysplasias — medical management, orthopaedic care for joint and spine issues, hearing and ENT care, social and school accommodations.
• Vosoritide and other newer medicines for achondroplasia are becoming available internationally; discuss with a specialist.
• Disability certificate + ALIMCO/ADIP aids where appropriate.
• Parent and peer networks — Little People of India-type groups.
• Counselling and psychological support for children and families; societal stigma in India is real and worth addressing actively.