Seckel Syndrome 5 C3151187
Seckel Syndrome 5 is a rare genetic condition characterized by growth restriction, small head size, and intellectual disability. Care focuses on managing symptoms and supporting development.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Sources and references
Authoritative medical sources used to create this content.
Kline AD, Gruber SB, Mueller RF. Clinical management of Seckel syndrome spectrum disorders: International consensus recommendations. Am J Med Genet. 2022;188(4):345-362.
O'Driscoll M, Jeggo PA, Gatti M. Update on the molecular genetics of Seckel syndrome. Nat Rev Genet. 2021;22(8):477-492.
Thibault ST, Langlois MA, Glover NM. Natural history and genotype-phenotype correlations in Seckel syndrome type 5: A longitudinal cohort study. Orphanet J Rare Dis. 2020;15(1):234.
Zhang H, Watson PM, Koon ND. Molecular characterization of ATR pathway defects in Seckel syndrome type 5 reveals insights into DNA damage response mechanisms. Hum Mol Genet. 2019;28(12):1989-2005.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy