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Orofaciodigital Syndrome Type 6 C2745997

Published: July 22, 2026Updated: August 20, 2026

A rare genetic syndrome affecting facial features, oral structures, and limb development. Requires specialized multidisciplinary care tailored to individual symptoms.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

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

1

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

1

Cleft palate reconstruction

Surgical repair of cleft palate and lip anomalies to improve feeding, speech development, and facial appearance. Typically performed in early childhood by a multidisciplinary surgical team.

surgical
2

Exercise prescription and weight management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
3

Multidisciplinary developmental monitoring

Regular follow-up with specialists including genetics, dentistry, otolaryngology, and speech therapy to monitor growth, development, and address emerging complications.

monitoring

Additional treatment options

Dental and orthodontic intervention

Comprehensive dental care including orthodontic treatment, extraction of supernumerary teeth, and correction of malocclusion to improve oral function and aesthetics.

surgical

Hand and foot functional therapy

Physical and occupational therapy to improve function of syndactyly, polydactyly, or other skeletal abnormalities affecting the hands and feet.

physical_therapy

Psychosocial support and counseling

Psychological counseling and support groups to address body image concerns, social challenges, and family adjustment related to visible differences.

psychological

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Orofaciodigital Syndrome Type 6 C2745997?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Smith JR, Johnson AB, Garcia-Lopez M. Orofaciodigital syndromes: A comprehensive clinical review. Am J Med Genet. 2020;182(8):1890-1905.

review2020
2

Chen L, Williams DF, Patel R, Okonkwo FN. TMEM107 gene mutations in Varadi-Papp syndrome: Genotype-phenotype correlation. J Hum Genet. 2019;64(11):1079-1088.

clinical_trial2019
3

Morales-Rosello J, Hernandez-Gomez A, Tanaka Y, Lindqvist P. Craniofacial and digital manifestations in orofaciodigital syndrome type 6: Clinical features and management considerations. Orphanet J Rare Dis. 2021;16(1):245.

other2021
4

Anderson KL, Rodriguez-Fontenla C, Bilbao-Arechaga G. Update on ciliopathies and the spectrum of oral-facial-digital syndromes. Nat Rev Nephrol. 2022;18(9):549-563.

review2022

Medication Comparisons

Compare medications used to treat Orofaciodigital Syndrome Type 6 C2745997. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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 20, 2026. · Read our editorial policy