DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (Orphanet code 268261) is a rare chromosomal disorder caused by a small deletion on the long arm of chromosome 21, encompassing the DYRK1A gene (dual-specificity tyrosine phosphorylation-regulated kinase 1A). This gene plays a critical role in brain development, and its haploinsufficiency — having only one functional copy — leads to a recognizable neurodevelopmental syndrome. The condition is also referred to as monosomy 21q22.13q22.2 or DYRK1A syndrome caused by microdeletion. It is classified under partial monosomy of chromosome 21 (ICD-10: Q93.5). The syndrome primarily affects the central nervous system, resulting in intellectual disability that ranges from moderate to severe, significant speech and language delay, and microcephaly (abnormally small head size). Additional features commonly include intrauterine growth restriction, feeding difficulties in infancy, seizures or febrile convulsions, characteristic facial features (such as a prominent nose, deep-set eyes, and a thin upper lip), and autism spectrum behaviors. Motor development is also typically delayed. Some individuals may have skeletal anomalies, vision problems, or congenital anomalies of other organ systems. There is currently no cure or targeted therapy for this condition. Management is supportive and multidisciplinary, involving early intervention programs, speech and language therapy, occupational therapy, physical therapy, and behavioral support. Seizures, when present, are managed with standard antiepileptic medications. Regular developmental assessments and monitoring by a team including neurologists, geneticists, and developmental pediatricians are recommended to optimize outcomes and quality of life.

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