Gracile Bone Dysplasia (GCLEB)

Gracile Bone Dysplasia (GCLEB) is a perinatally fatal condition with fewer than 30 cases reported to date. It is characterized by severe abnormalities in bone development and growth. It is linked to heterozygous mutations in the FAM111A gene, this autosomal dominant disorder presents at birth or infancy with brittle, slender bones, and cranial abnormalities. Diagnosis relies on radiological and histopathological assessments, with genetic testing confirming FAM111A mutations. Unfortunately, no treatment currently exists, leading to a poor prognosis, with most patients stillborn or succumbing shortly after birth. The rarity of GCLEB and its poorly understood molecular mechanisms emphasize the imperative for further research into this devastating condition. This chapter provides a comprehensive overview of GCLEB, encompassing its historical background, etiology, clinical manifestations, diagnosis, and current management strategies.