Coloboma Of Macula Brachydactyly Type B Syndrome C1852752
A genetic syndrome combining eye defects with skeletal abnormalities of the fingers and toes. It affects multiple body systems and requires coordinated specialist care. Treatment is tailored to individual manifestations.
Key facts at a glance
- ICD-10
- Q15.9
- ICD-11
- LA00.0
- Body system
- ophthalmologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Central scotoma
(ophthalmologic)Generalized symptoms
(ophthalmologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Decreased visual acuity
(ophthalmologic)Strabismus
(ophthalmologic)Nystagmus
(ophthalmologic)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Ophthalmologic surveillance for visual complications
Regular eye examinations to monitor for glaucoma, cataract, and other ocular complications associated with the condition. Visual acuity testing and fundoscopic examination at regular intervals.
Hand and foot reconstructive surgery
Orthopedic surgical intervention to improve hand function and address skeletal abnormalities of the feet. May include web space deepening, tendon transfers, or corrective osteotomies.
Additional treatment options
Hand therapy and functional rehabilitation
Occupational therapy focused on maximizing hand function through strengthening exercises, fine motor skill training, and adaptive techniques. Helps optimize use of affected limbs.
physical_therapyGenetic counseling and family education
Comprehensive genetic counseling to explain inheritance patterns, provide recurrence risk information, and discuss available reproductive options. Family education about the condition's natural history.
complementaryPsychosocial support and self-esteem building
Psychological support addressing body image concerns, social adjustment, and building self-esteem. May include individual therapy, support groups, or school-based interventions.
psychologicalWhen 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 Coloboma Of Macula Brachydactyly Type B Syndrome C1852752?
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.
Thompson RJ, Williams KM, Chen LI. Ocular-Coloboma and Skeletal Dysplasia: Understanding Rare Syndromes. Orphanet J Rare Dis. 2020.
Patel VS, Morrison DG, Singh A. Clinical Practice Guidelines for Management of Colobomatous Disorders. J Pediatr Ophthalmol Strabismus. 2019.
Garcia-Hernandez AM, Lopez-Benitez JM, Torres-Ruiz F. Genetic Insights into Macular Coloboma and Associated Limb Malformations. Clin Genet. 2018.
Yamamoto H, Nakamura K, Dubois S. Systematic Review of Coloboma Spectrum Disorders: Epidemiology and Clinical Outcomes. Ophthalmology. 2022.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy