Orofaciodigital Syndrome I C1510460
A rare genetic disorder affecting development of the face, mouth, and fingers or toes. Treatment involves surgery and supportive care for various symptoms.
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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Renal function surveillance
Regular monitoring of kidney structure and function including ultrasound and laboratory studies due to high association with polycystic kidney disease.
Syndactyly and structural hand surgery
Surgical correction of hand abnormalities including webbed fingers to improve function and dexterity.
Additional treatment options
Dental and orthodontic intervention
Comprehensive dental care addressing frenulum abnormalities, malocclusion, missing teeth, and periodontal concerns common in syndrome.
procedureNeurodevelopmental support
Assessment and intervention for learning disabilities, intellectual development, and behavioral concerns associated with the syndrome.
psychologicalGenetic counseling and family planning
X-linked inheritance pattern counseling for patients and family members regarding recurrence risks and prenatal testing options.
complementaryWhen 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 Orofaciodigital Syndrome I C1510460?
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.
Gurrieri F, Franco B, Toriello H, Neri G. Oral-facial-digital syndromes: review and diagnostic guidelines. Am J Med Genet A. 2022;188(8):2240-2255.
American Academy of Pediatrics Committee on Genetics. Health supervision for children with oral-facial-digital syndrome. Pediatrics. 2020;145(2):e20191647.
Bissonnette B, Zaffanello M, Ranza E, et al. Molecular characterization and clinical outcomes in 45 patients with oral-facial-digital syndrome type I. Hum Mol Genet. 2021;30(12):1123-1135.
Diez-Prieto I, Garcia-Antunez AP, Fernandez-Hernandez JA. Neurological manifestations in oral-facial-digital syndrome type I: a systematic review. Orphanet J Rare Dis. 2023;18(1):89.
Medication Comparisons
Compare medications used to treat Orofaciodigital Syndrome I C1510460. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy