Ho Kaufman Mcalister Syndrome C2931819
A rare genetic disorder affecting multiple body systems. Features typically include distinctive facial features, developmental differences, and various organ abnormalities.
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.
Cleft palate
(craniofacial)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hearing loss
(ENT)Limb malformations
(musculoskeletal)Developmental delay
(developmental)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
Corneal Transplantation
Penetrating or lamellar keratoplasty may be performed to restore vision in patients with congenital corneal opacities, though timing and success rates vary based on associated ocular abnormalities.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Craniosynostosis Repair
Surgical release and reconstruction of fused cranial sutures to allow normal brain growth and development, typically performed in infancy to prevent increased intracranial pressure and craniofacial deformities.
Additional treatment options
Antiseizure Medication
If seizures are present, appropriate antiseizure medications tailored to seizure type are prescribed, with regular monitoring for efficacy and adverse effects.
medicationEarly Intervention Physical Therapy
Structured physical therapy programs focusing on motor development, strength, and coordination are essential for maximizing functional independence and addressing motor delays associated with the syndrome.
physical_therapyMultidisciplinary Surveillance
Regular ophthalmologic, neurologic, and developmental assessments by a coordinated team to monitor for progressive features, manage complications, and optimize developmental outcomes.
monitoringWhen 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 Ho Kaufman Mcalister Syndrome C2931819?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Ho Kaufman Mcalister Syndrome C2931819. 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 20, 2026. · Read our editorial policy