OBSOLETE: ATR-X-related syndrome

ATR-X-related syndrome (Orphanet code 263355) is an obsolete disease classification that was previously used to group conditions caused by mutations in the ATRX gene (also known as the XNP gene or X-linked helicase 2 gene), located on the X chromosome. This entry has been retired and replaced by more specific diagnostic entities within the ATR-X spectrum. The primary condition now recognized is Alpha-Thalassemia X-linked Intellectual Disability (ATR-X) syndrome, characterized by severe intellectual disability, distinctive facial features (including a small nose with upturned nares, tented upper lip, and widely spaced eyes), genital anomalies in males (ranging from undescended testes to ambiguous genitalia), and alpha-thalassemia with hemoglobin H inclusions in red blood cells. The syndrome predominantly affects males, as it follows an X-linked recessive inheritance pattern. Additional features may include skeletal anomalies, feeding difficulties, and seizures. Because this Orphanet entry is obsolete, patients and clinicians should refer to the current active entries for ATR-X syndrome (OMIM #301040, Orphanet 847) for up-to-date clinical information, management guidelines, and genetic counseling. Treatment is supportive and symptomatic, with no curative therapy currently available. Management typically involves multidisciplinary care addressing developmental, neurological, urological, and hematological needs.

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