What are the other names for this condition?
- ATR Syndrome linked to chromosome 16
- ATR-16 Syndrome
- ATR Syndrome, deletion type
- Alpha thalassemia-intellectual disability syndrome, deletion type
What is ATR-16 Syndrome?
ATR-16 syndrome is a type of alpha-thalassemia. This means it is associated with microcytosis or small red blood cells (smaller oxygen carrying cells), hypochromia or red cells being paler than normal, normal hemoglobin (Hb) levels or slightly lowered levels (mild anemia), connected to developmental abnormalities.
What is the cause of ATR-16 Syndrome?
Alpha-thalassemia-intellectual deficit syndrome is in essence due to the deletion of a single gene. This is located on the chromosome 16 (or ATR-16). It is basically a gene deletion syndrome and will be present from birth (congenital). It could be either a spontaneous mutation or it could be inherited from a parent.
What are the clinical features of ATR-16 syndrome?
Patients with alpha-thalassemia may show a mild to profound (in most of the cases) intellectual disability. In a few cases, patients may show mild, general dysmorphic features (difference of body structure) such as eyes placed wide apart (hypertelorism) , down slanted eyes, broad or noticeable nasal bridge, smallish ears with short neck, microcephaly(small head) and short stature. The other abnormalities include genital changes and club foot.
How is ATR-16 Syndrome diagnosed?
Diagnosis of ATR-16 syndrome is based on the clinical picture and established by cytogenetic (chromosomal) testing. Regular cytogenetic studies may be sufficient to identify the deletion. Nevertheless, sometimes methods like comparative genomic hybridization (CGH) arrays will have to be used to detect puzzling chromosomal deletions.
What is the treatment of ATR-16 Syndrome?
Genetic counseling is recommended when it is known that the parents are carriers of this specific chromosomal translocation.
However, there is no specific treatment for ATR-16. The management is based on symptoms and necessitates a multidisciplinary approach. The management of intellectual deficiency generally consists of speech therapy and customized educational plans. The anemia treatment may include occasional red blood cell transfusions, iron chelation as well as other supportive measures.
Disclaimer: The content provided here is meant for general informational purposes only and hence SHOULD NOT be relied upon as a substitute for sound professional medical advice, care or evaluation by a qualified doctor/physician or other relevantly qualified healthcare provider.
