Chondrodysplasia Punctata: Early Diagnosis and Multidisciplinary Management of Conradi-Hünermann-Happle Syndrome (CDPX2).

Chondrodysplasia punctata (CP) is a rare skeletal dysplasia characterized by punctate calcifications in areas of endochondral ossification, with Conradi-Hünermann-Happle syndrome (CDPX2) being the most common form. This study presents a clinical case of a 10-month-old female child, diagnosed with CDPX2 following a referral from a neonatology department of a secondary hospital center to a genetics consultation at a tertiary hospital center in Portugal. Despite normal prenatal monitoring, postnatal evaluations revealed typical manifestations of the syndrome, including nasomaxillary hypoplasia, macrocephaly, and skeletal abnormalities confirmed through imaging. Genetic testing using whole exome sequencing (WES) based on next-generation sequencing (NGS), targeting a panel of genes associated with skeletal dysplasia, revealed a loss-of-function variant in the emopamil-binding protein (EBP) gene. The child received multidisciplinary care from a team composed of orthopedy, dermatology, and physical medicine and rehabilitation doctors, aimed at promoting motor development and managing the condition's complexities. This study underscores the importance of early diagnosis and a comprehensive treatment approach to enhance the quality of life for individuals with CP, while also highlighting the need for increased awareness of such rare genetic disorders among healthcare professionals. Ongoing research into genetic therapies offers hope for future advancements in treatment options.