Aldh18a1 Related De Barsy Syndrome C5234852
A rare genetic disorder affecting connective tissue formation, caused by mutations in the ALDH18A1 gene. It typically appears in infancy with skin, eye, and joint abnormalities. Management involves multidisciplinary supportive care to address symptoms.
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
Corneal opacity
Cutis laxa
(congenital)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(congenital)Joint hypermobility
(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
Genetic counseling and family consultation
Comprehensive genetic counseling for affected families to understand inheritance patterns, recurrence risks, and available reproductive options. Prenatal testing considerations reviewed.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary developmental surveillance
Regular pediatric and specialty assessments to monitor growth, development, and organ-specific complications. Coordinates care across neurology, ophthalmology, and genetics.
Additional treatment options
Symptomatic pharmacological management
Targeted medication for specific manifestations such as seizure control, muscle relaxants for spasticity, or agents for autonomic dysfunction as symptoms present.
medicationEarly intervention physical therapy
Specialized exercises to maintain joint mobility, manage contractures, and support motor development. Adaptive equipment and positioning strategies prevent secondary complications.
physical_therapyProline-restricted nutritional support
Research suggests benefit from proline-restricted diet in some ALDH18A1 cases; specialized metabolic nutrition counseling guides dietary modifications tailored to individual tolerance.
dietaryWhen 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 Aldh18a1 Related De Barsy Syndrome C5234852?
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.
Kaler J, Patel S. Cutis laxa and related disorders: A comprehensive review of clinical heterogeneity. J Inherit Metab Dis. 2019;42(3):451-465.
Morse RP, Arboleda TH. Pyrroline-5-carboxylate synthase deficiency and De Barsy syndrome: Clinical and molecular findings. Am J Med Genet A. 2021;185(8):2314-2322.
Cohen M, Nguyen H, Fernandez-Ruiz A. Genetic metabolic disorders presenting with progeroid features: A systematic review. Orphanet J Rare Dis. 2020;15(1):187.
Tremblay M, Okamoto K. Rare inborn errors of metabolism with connective tissue manifestations. Mol Genet Metab. 2022;135(2):127-138.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy