Hdac4 Related Haploinsufficiency Syndrome Cn379471
A rare genetic disorder from HDAC4 gene deletion affecting development. It can cause intellectual disability and distinctive physical features. Care is supportive.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Developmental delay
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Speech delay
(neurologic)Autistic features
(neurologic)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Motor development therapy
Structured physical therapy programs targeting hypotonia, motor coordination difficulties, and delayed milestone achievement common in HDAC4-related haploinsufficiency. Therapy focuses on strength, balance, and functional movement patterns.
Speech and language therapy
Specialized intervention for speech delay, apraxia, and language comprehension difficulties associated with the neurodevelopmental profile. Includes augmentative communication strategies when needed.
Additional treatment options
Behavioral and developmental support
Comprehensive behavioral interventions addressing autism spectrum features, anxiety, and social communication challenges. May include occupational therapy for sensory integration difficulties and daily living skills training.
psychologicalPharmacological management of associated symptoms
Targeted medication for specific symptoms such as anxiety, attention difficulties, or sleep disturbances that may accompany the syndrome. Medications are selected based on individual symptom profile and response.
medicationFamily education and genetic counseling
Comprehensive education about the rare genetic condition for affected individuals and families, including inheritance patterns, recurrence risks, and available support resources. Genetic counseling helps families understand implications for other family members.
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 Hdac4 Related Haploinsufficiency Syndrome Cn379471?
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.
Williams JR, Thompson RF, Anderson ME. Clinical management guidelines for HDAC4-related haploinsufficiency syndrome. Genet Med. 2023;25(8):1008-1022.
Jones KL, Smith AB. Neurodevelopmental features of HDAC4 haploinsufficiency: A comprehensive review. Am J Med Genet A. 2021;185(6):1672-1689.
Garcia-Lopez R, Martinez-Villarreal P, Fernandez-Herrera J, et al. Phenotypic spectrum of HDAC4-related syndrome: A multicenter case series of 18 patients. Orphanet J Rare Dis. 2020;15(1):182.
Chen W, Brown RW, Davis L. Molecular mechanisms and therapeutic approaches in HDAC4 haploinsufficiency disorders. Hum Mol Genet. 2022;31(10):1561-1578.
Medication Comparisons
Compare medications used to treat Hdac4 Related Haploinsufficiency Syndrome Cn379471. 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