Diagnosis of Dwarfism
The diagnosis of dwarfism often begins with noticing that a child is significantly shorter than expected for their age. Paediatricians typically monitor a child’s growth on standardised growth charts. If height and weight consistently fall below the third percentile, or if growth slows noticeably over time, further investigation is warranted. In most cases, the initial signs of dwarfism appear during infancy or early childhood.
A thorough physical examination provides clues to the type of dwarfism. Disproportionate body features—such as shorter arms and legs with a normal-sized torso—may suggest skeletal dysplasia, like achondroplasia. In contrast, proportionate dwarfism results in overall small stature with no significant difference between limb and trunk lengths. The presence of facial features, joint problems, or spinal curvature also helps guide diagnosis.
Doctors will usually start with a full family and medical history. Knowing whether parents or siblings have short stature helps determine if the child’s growth pattern is familial or potentially pathological. A review of birth history, developmental milestones, and any previous illnesses also forms part of the diagnostic process.
Imaging Tests
To confirm the diagnosis of dwarfism, imaging tests such as X-rays are often ordered. These help assess bone shape and growth plate development. In skeletal dysplasias, characteristic changes in bone structure are typically visible. For suspected hormonal causes—like growth hormone deficiency—blood tests and a growth hormone stimulation test may be used to evaluate hormone levels.
Genetic testing plays a vital role in identifying the specific cause. For conditions like achondroplasia, a mutation in the FGFR3 gene is commonly detected. Genetic counselling is recommended for families when a heritable condition is diagnosed, especially if they are considering future pregnancies.
In South Africa, the availability of advanced diagnostic tools such as genetic testing or growth hormone assays can be limited, especially in rural clinics. Referral to paediatric endocrinologists or genetic specialists may be delayed. However, increasing awareness among healthcare providers and the expansion of tertiary services in major cities is improving early diagnosis.
Diagnosis of Dwarfism
Prenatal diagnosis is possible in some cases. Ultrasound scans can detect short limb length or other skeletal abnormalities from the second trimester onwards. In families with a known genetic condition, tests like amniocentesis or chorionic villus sampling can confirm the diagnosis during pregnancy.
An early diagnosis of dwarfism allows for timely intervention, education planning, and appropriate medical management. It also helps families adjust, access support networks, and understand what to expect. The goal is not only to treat medical issues but also to foster healthy development and long-term well-being.
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