What Is Familial Short Stature and How Is It Diagnosed?

Short stature refers to a height significantly below the average for a child’s age and sex. Medically, this often means a height more than two standard deviations below the mean for their population, typically falling below the 3rd percentile on growth charts. Various factors can influence a child’s height, ranging from genetic predispositions to underlying medical conditions.

Understanding Familial Short Stature

Familial short stature (FSS) describes a common, non-pathological variation of normal growth where a child is shorter than average due to their family’s genetic makeup. Children with FSS generally have parents or close relatives who are also shorter. This condition is not caused by disease; rather, it represents a child reaching their predetermined genetic potential for height. Genetic factors are believed to account for around 80% of the variation in adult height.

Children with familial short stature grow at a normal rate, but their growth curve consistently tracks along a lower percentile on standard growth charts. They maintain a normal growth velocity. Bone age in children with FSS is consistent with their chronological age, indicating skeletal maturation is proceeding as expected. They also tend to enter puberty within the normal age range.

Diagnosing Familial Short Stature

Diagnosing familial short stature involves a comprehensive evaluation by a healthcare professional, starting with a physical examination. The process includes accurately measuring the child’s height and weight, which are then plotted on a growth chart. Consistently following a low but normal percentile on these charts, without a significant drop in growth velocity, is a primary indicator. Family history is gathered to determine the height of parents and other close relatives, which helps assess the child’s genetic potential for height.

A diagnosis of familial short stature is one of exclusion, meaning other potential medical causes must be investigated and ruled out. This may involve various tests to ensure no underlying health conditions are affecting growth. Common tests include blood tests for hormonal imbalances, nutritional deficiencies, or chronic illnesses. A bone age X-ray, typically of the left hand and wrist, is performed to assess skeletal maturity; in FSS, bone age aligns with chronological age. These steps help confirm the child’s short stature is a normal genetic variation rather than a symptom of a health issue.

Living with Familial Short Stature

Familial short stature is considered a normal variant of human growth and does not require medical intervention or treatment. Children with FSS are healthy and experience normal development, including intelligence and physical capabilities. Their final adult height will be within the expected range based on their family’s genetic predisposition, aligning with their parents’ heights. Growth hormone therapy is not effective for increasing final adult height in individuals with familial short stature because their growth is already proceeding normally within their genetic potential.

Addressing the psychosocial aspects of familial short stature is important. Children who are shorter than their peers may face negative stereotypes or social challenges. Parents can foster a positive self-image and focus on the child’s overall health and well-being, rather than solely on height. Encouraging social confidence and addressing any teasing or bullying can help children with FSS navigate their experiences and thrive.