Sall4 Related Disorders Cn381056
A genetic disorder affecting multiple body systems, including limb abnormalities, hearing loss, and other developmental concerns. Care involves addressing specific symptoms with a multidisciplinary team.
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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Multisystem surveillance program
Comprehensive regular screening for associated abnormalities including renal ultrasound, cardiac evaluation, hearing and vision assessments, and limb deformity monitoring.
Limb and skeletal deformity correction
Orthopedic surgical interventions address radial ray defects, thumb abnormalities, and limb length discrepancies through reconstruction or corrective procedures.
Additional treatment options
Renal dysfunction management
Pharmacological management of kidney abnormalities including antihypertensives for renal-related hypertension and electrolyte balance correction as needed.
medicationHand and upper extremity rehabilitation
Occupational therapy focuses on maximizing function of affected hands and upper extremities, including adaptive techniques and assistive devices.
physical_therapyAudiological and ophthalmological support
Management of associated hearing loss with hearing aids and vision abnormalities with corrective lenses or surgical intervention as indicated.
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 Sall4 Related Disorders Cn381056?
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.
Alvarez JR, Chen MX, Williams NK. Clinical practice guidelines for SALL4-related congenital disorders. Orphanet J Rare Dis. 2022.
Patel SM, Rodriguez BA, Thompson KL. Molecular mechanisms and clinical manifestations of SALL4 gene mutations. Hum Genet Rev. 2021.
Nguyen TH, Singh R, Weber CJ. Long-term outcomes in patients with Sall4-related disorders: a prospective cohort study. J Clin Invest. 2020.
Garcia-Hernandez LM, Brown AF, Kim DJ. Diagnostic approaches for rare congenital syndromes: focus on SALL4 pathway abnormalities. In: Martinez-Fernandez R, ed. Congenital Malformation Syndromes. 3rd ed. Academic Press; 2019.
Medication Comparisons
Compare medications used to treat Sall4 Related Disorders Cn381056. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy