Síndrome Wieacker-Wolff - Uma doença rara de hereditariedade ligada ao X

Wieacker-Wolff syndrome (WWS) is an X-linked disorder caused by a pathogenic mutation in the ZC4H2 gene. It affects both the central and peripheral nervous systems. The authors describe the case of a six-year-old boy with global developmental delay since the age of four months, with marked axial hypotonia. He had a history of bilateral clubfoot, feeding difficulties, and recurrent respiratory infections. Physical examination revealed a long and flat philtrum, low-set ears, arched palate, and a carp-shaped mouth. The child currently has intellectual disability, epilepsy, and lower limb spasticity. Clinical exome sequencing revealed the presence of a mutation in the ZC4H2 gene, confirming the diagnosis of WWS, a rare condition. With this case, the authors intend to highlight the importance of evaluating early signs of musculoskeletal deformities and hypotonia in the first months of life. Besides confirming the etiologic diagnosis, the genetic study allows to anticipate associated conditions, tailor interventions, and provide family counseling.