childhood hypophosphatasia

Childhood hypophosphatasia is a form of hypophosphatasia that typically presents after six months of age. It is a condition affecting the bones, resulting in features such as low bone mineral density, unexplained fractures, skeletal deformities, rickets, short stature, and a waddling gait. The condition is associated with changes in the ALPL gene, which plays a key role in bone mineralization. Because precise prevalence data is not available, this condition is understood to be quite rare and variable in its presentation.

The clinical presentation of childhood hypophosphatasia is highly variable, with affected children showing a range of skeletal findings. A characteristic feature noted in all individuals is the presence of Bowdler spurs. Other observed features include low bone mineral density for age, unexplained fractures, skeletal deformities, rickets, short stature, and a waddling gait. Not all individuals experience every feature, and severity varies considerably between affected children.

This condition is caused by pathogenic variants in the ALPL gene, which is important for producing the enzyme alkaline phosphatase, a protein that facilitates proper bone mineralization. Childhood hypophosphatasia is inherited in an autosomal recessive pattern, meaning that an affected child inherits one altered copy of the gene from each carrier parent. This inheritance pattern implies that siblings of an affected individual have a one in four chance of also being affected. Genetic counseling can provide further guidance for families regarding recurrence risks and family planning.

Currently, management of childhood hypophosphatasia focuses on supportive care and symptom management, as no treatments have been specifically approved for this condition. A multidisciplinary approach that may include physical therapy and other supportive interventions is typically recommended to help manage bone and growth-related complications. Patients and families are encouraged to discuss all available management options with their healthcare team and to consider genetic counseling to better understand the condition and implications for family planning.

The long-term outlook for childhood hypophosphatasia is variable, with the disease course ranging from mild skeletal involvement to more pronounced complications. With current standards of care, many individuals continue to experience a stable quality of life while benefiting from supportive interventions tailored to their needs. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition and to engage in genetic counseling to explore individualized management and future planning.

Clinical trials are underway exploring new treatment approaches for childhood hypophosphatasia. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.