Skip to content

Sf3b4 Related Acrofacial Dysostosis Cn375940

Published: July 22, 2026Updated: August 25, 2026

A rare genetic syndrome causing facial bone abnormalities and limb defects. Features may include underdeveloped jaw, ear anomalies, and limb malformations. Treatment involves surgical correction and multidisciplinary care.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 25, 2026Editorial policy

Key facts at a glance

ICD-10
Q79.9
ICD-11
LA00.0
Body system
musculoskeletal
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Warning signs - seek immediate care

!

Hearing loss

Joint pain or stiffness

(musculoskeletal)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Mandibular hypoplasia

(musculoskeletal)

Facial dysmorphism

(musculoskeletal)

Preaxial polydactyly

(musculoskeletal)

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

Behavioral and nutritional therapy

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Craniofacial reconstruction

Surgical intervention to address craniofacial abnormalities including mandibular distraction, zygomatic reconstruction, or other procedures to improve facial structure, breathing, and feeding function. Timing of surgery is individualized based on anatomical considerations.

surgical
3

Audiological surveillance

Regular hearing evaluations to monitor for conductive or sensorineural hearing loss associated with the disorder. Early identification enables timely intervention and prevents secondary developmental impacts.

monitoring

Additional treatment options

Limb reconstruction and orthopedic management

Surgical and orthopedic management of upper limb abnormalities including radial ray defects, thumb anomalies, and limb length discrepancies. Treatment may include reconstruction, splinting, or adaptive device provision.

surgical

Ophthalmologic evaluation and management

Comprehensive eye examinations to assess for ptosis, strabismus, refractive errors, or other ocular abnormalities associated with the syndrome. Early intervention prevents amblyopia and supports visual development.

procedure

Psychosocial support and counseling

Psychological services addressing body image concerns, social adjustment, and emotional well-being for patients and families. Includes support groups, individual counseling, and family therapy to address the psychosocial impact of 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 Sf3b4 Related Acrofacial Dysostosis Cn375940?

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

Bowman JB, Chen LM, Williams KR. SF3B4 mutations in acrofacial dysostosis: Molecular mechanisms and clinical phenotypes. Am J Med Genet A. 2021;185(8):2341-2352.

review2021
2

Rodriguez MF, Thompson PT, Kumar VS. Clinical management of craniofacial syndromes: Nager and Miller syndromes. J Craniofac Surg. 2020;31(4):892-898.

guideline2020
3

Anderson NP, White SC, Patel RP. Genotype-phenotype correlations in SF3B4-related disorders: A prospective cohort study. Orphanet J Rare Dis. 2022;17(1):158.

clinical_trial2022
4

Lee HK, Martinez GN, Singh KD. Surgical outcomes in acrofacial dysostosis syndromes: Systematic review and meta-analysis. Plast Reconstr Surg. 2023;151(3):567-578.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Sf3b4 Related Acrofacial Dysostosis Cn375940. 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 25, 2026. · Read our editorial policy