Differential Diagnosis for a 15-month-old Female Below 5% of Height
Single Most Likely Diagnosis
- Familial Short Stature: This is the most likely diagnosis, as it is a common cause of short stature in children. It is often inherited from one or both parents who are also short.
Other Likely Diagnoses
- Nutritional Deficiencies: Inadequate nutrition, particularly a lack of protein, calories, or micronutrients like vitamin D and calcium, can lead to growth failure.
- Hypothyroidism: Untreated congenital hypothyroidism can cause growth retardation. Early detection and treatment are crucial for normal growth and development.
- Growth Hormone Deficiency: A deficiency in growth hormone can lead to short stature. This condition may be isolated or part of a broader syndrome.
Do Not Miss Diagnoses
- Cushing's Syndrome: Although rare, Cushing's syndrome due to excess cortisol can cause growth retardation among other symptoms. Missing this diagnosis can lead to significant morbidity.
- Chronic Kidney Disease: Renal failure can cause growth failure due to metabolic acidosis, electrolyte imbalances, and secondary hyperparathyroidism.
- Intrauterine Growth Restriction (IUGR) with Catch-up Growth Failure: Some children who experienced IUGR may not exhibit the expected catch-up growth, leading to persistent short stature.
Rare Diagnoses
- Turner Syndrome: A genetic condition in females characterized by the absence of all or part of one X chromosome, leading to short stature among other features.
- Prader-Willi Syndrome: A rare genetic disorder causing short stature, intellectual disability, and distinct physical features.
- Achondroplasia: The most common form of short-limbed dwarfism, which is usually apparent at birth or in early infancy.
- Other Genetic Syndromes: Such as Noonan syndrome, Russell-Silver syndrome, and SHOX gene defects, which can all present with short stature.