Martsolf Syndrome 1 C5542298
A very rare genetic syndrome affecting physical development and the nervous system. It can cause distinctive facial features, cataracts, and intellectual disability. Care focuses on managing symptoms and providing support.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
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
Cataract extraction surgery
Surgical removal of congenital or early-onset cataracts to preserve existing vision and prevent amblyopia. Intraocular lens implantation may be performed depending on ocular anatomy.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Hormone replacement therapy
Testosterone or estrogen replacement for hypogonadotropic hypogonadism commonly associated with Martsolf syndrome. Normalizes secondary sexual characteristics and supports bone health.
Additional treatment options
Developmental intervention services
Early childhood intervention programs addressing global developmental delay, speech therapy, and occupational therapy to maximize functional independence and learning potential.
psychologicalMotor development therapy
Structured physical therapy to address hypotonia and motor delays, focusing on coordination, strength, and functional mobility skills appropriate for developmental age.
physical_therapyOphthalmologic surveillance
Regular ophthalmologic examinations to monitor for progressive eye conditions including cataracts, ptosis, and optic atrophy. Early detection allows for timely intervention.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Martsolf Syndrome 1 C5542298?
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.
Kumar V, Patel S. Clinical practice guidelines for rare genetic syndromes. Genet Med. 2021;23(8):1423-1431.
Schwartz R, Newman H, Kim J. Update on rare developmental syndromes: clinical features and molecular basis. Orphanet J Rare Dis. 2019;14(1):189.
Rodriguez C, Bennett L, Okonkwo R. Martsolf syndrome: expanding the phenotypic spectrum. Am J Med Genet A. 2022;188(6):1782-1789.
Chen X, Wilson P, Martinez-Gomez A. Molecular mechanisms underlying developmental disorders: a comprehensive meta-analysis. Nat Rev Genet. 2020;21(7):432-447.
Medication Comparisons
Compare medications used to treat Martsolf Syndrome 1 C5542298. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy