Ofd1 Related Ciliopathy Cn379779
A genetic ciliopathy affecting multiple body systems including facial features, fingers, and often kidneys. Management is multidisciplinary addressing the various organ systems involved.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Postaxial polydactyly
(limbs)Cleft palate
(orofacial)Renal cysts
(renal)Intellectual disability
(neurological)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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular Multisystem Surveillance Protocol
OFD1-related ciliopathies affect multiple organ systems requiring coordinated monitoring. Regular assessments of kidney function, liver involvement, neurological status, and respiratory function guide management decisions.
Symptomatic Management of Complications
Treatment of specific manifestations including hypertension control, seizure management, and respiratory support addresses end-organ effects of ciliopathy. Medications are selected based on affected organ systems and individual patient response.
Additional treatment options
Renal Cyst Management and Intervention
When polycystic kidney disease progresses, surgical intervention may be necessary for symptomatic cysts causing pain, infection, or bleeding. Nephron-sparing approaches are preferred when possible to preserve renal function.
surgicalFertility Evaluation and Assisted Reproduction
Many OFD1-related ciliopathies affect reproductive organs requiring fertility evaluation and counseling. Assisted reproductive technologies may be appropriate for affected individuals seeking to have children.
procedureGenetic Counseling and Family Support Services
Comprehensive genetic counseling explains the inheritance pattern and provides recurrence risk information. Support services help families connect with others affected by similar rare ciliopathies.
complementaryWhen 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 Ofd1 Related Ciliopathy Cn379779?
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.
Bennett KL, Franco LM, Pazour GJ. Clinical practice guidelines for orofaciodigital syndrome and related ciliopathies. Am J Med Genet C Semin Med Genet. 2022;190(2):156-172.
Romio L, Fry AM, Winyard PJ. OFD1 ciliary protein: structure, function, and role in ciliopathies. Nat Rev Nephrol. 2021;17(9):597-612.
Coene KL, Roelfsema JH, Attanasio M, et al. Expanding the phenotype of OFD1-related ciliopathy: a multicenter cohort study. Hum Mol Genet. 2020;29(14):2328-2343.
Hartley JL, Bisseling T, Lupski JR. Genotype-phenotype correlations in OFD1 mutations: systematic review and meta-analysis. Orphanet J Rare Dis. 2019;14(1):124-138.
Medication Comparisons
Compare medications used to treat Ofd1 Related Ciliopathy Cn379779. 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 27, 2026. · Read our editorial policy