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
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intrauterine growth retardation
(congenital)Developmental delay
(neurological)Microcephaly with intellectual disability
(congenital)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Comprehensive developmental monitoring
Regular pediatric assessments tracking growth parameters, neurodevelopmental milestones, and organ system function to detect complications early.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Orthopedic intervention for skeletal abnormalities
Surgical correction of skeletal deformities such as scoliosis, hip dysplasia, or limb abnormalities common in Seckel syndrome.
Additional treatment options
Motor development therapy
Specialized physical therapy program designed to improve muscle strength, coordination, and gross motor skills in children with Seckel syndrome.
physical_therapyNeurodevelopmental support services
Cognitive assessment and tailored educational interventions addressing intellectual disability and learning difficulties.
psychologicalHome accessibility modifications
Environmental adaptations including wheelchair-accessible fixtures, adaptive equipment, and safety measures scaled for individuals with short stature.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Seckel Syndrome 5 C3151187?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources 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
Compare medications used to treat Seckel Syndrome 5 C3151187. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy