ATR-x syndrome

ATRX syndrome (Alpha‑Thalassemia X‑linked Intellectual Disability Syndrome, ATR‑X syndrome) is a genetic hereditary disorder in which the ATRX gene on the X chromosome is affected. ATRX syndrome is characterized by distinctive facial features, genital anomalies, severe psychomotor retardation, hypotonia, intellectual disability, and mild to moderately severe anemia.

The disorder arises either as a de novo mutation, or it may be inherited from a healthy mother who carries one mutated gene (a carrier). In such a case, there is a 25% chance of having a son with ATRX syndrome, 25% chance of having an unaffected son, 25% probability of having a healthy daughter who carries one mutated gene (carrier), and 25% chance of having a daughter without the defective gene. Patients with ATRX syndrome are infertile.

Diagnosis

Diagnosis is performed through genetic consultation and molecular diagnostics. It is important to examine the family pedigree in cases where the syndrome may recur within the family and the probability is higher.

Treatment

Treatment for children is individualized and tailored to their needs. Children with ATR‑X syndrome require care from multiple specialists, special‑education professionals, initiation of early intervention to support psychomotor development and intellectual progress, as well as physiotherapy. Patients with ATRX require supplementation with special high‑calorie formulas.

• špecifické črty tváre: telekantus – oči ďaleko od seba, krátky nos, plochá tvár, mikrocefália (malý obvod hlavičky)
• abnormality fontanely
• anomálie genitálu – hypospádia, nezostúpené semenníky - kryptorchizmus, pre pohlavie nejednoznačne charakteristické genitálie, normálne vyzerajúce ženské vonkajšie pohlavné orgány
• psychomotorické oneskorenie – evidentné u batoliat, niektoré deti nie sú schopné samostatnej chôdze
• porucha reči
• gastroezofageálny reflux
• porucha intelektu - ťažký stupeň
• abnormality skeletu - nízky vzrast, deformity chodidla - pes varus / valgus (vytočenie chodidla), skolióza, kontraktúry prstov, abnormálne krátke prsty - brachydaktýlia, pectus carinatum (vpáčený hrudník)
• laboratórne je dokázaná alfa - talasémia - produkcia chybného hemoglobínu je ako príčina ľahkej až stredne ťažkej anémie