Klhl7 Related Bohring Opitz Like Syndrome C5680210
A genetic disorder similar to Bohring-Opitz syndrome, causing developmental delay, distinctive facial features, and various health complications. Care is supportive and individualized.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(nervous)Abnormal posture
(musculoskeletal)Astigmatism
(eye)Hirsutism
(integumentary)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
Comprehensive Medical Management
Regular surveillance for characteristic features including microcephaly, feeding difficulties, and growth abnormalities with coordinated specialist care.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Developmental and Behavioral Interventions
Structured early intervention programs addressing developmental delays and potential behavioral concerns associated with the syndrome.
Additional treatment options
Feeding Support Interventions
Surgical or procedural interventions for severe feeding difficulties may include gastrostomy tube placement to ensure adequate nutrition intake.
surgicalCaregiver Training Program
Comprehensive training for family caregivers on managing daily care needs, recognizing warning signs, and implementing therapeutic strategies at home.
lifestyleMusculoskeletal Management
Physical therapy addressing postural abnormalities, contracture prevention, and promoting safe mobility through customized exercise programs.
physical_therapyWhen 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 Klhl7 Related Bohring Opitz Like Syndrome C5680210?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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.
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 27, 2026. · Read our editorial policy