Phelan Mcdermid Syndrome Due To 22q13 3 Deletion Cn378474
A genetic condition from chromosome 22q13 deletion causing developmental delay, speech difficulties, and distinctive facial features. Early intervention services support development.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Seizures
(neurologic)Developmental delay
(neurologic)Speech impairment
(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
Early Intervention Programs
Structured developmental programs providing speech, occupational, and physical therapy services starting in infancy. These programs address core deficits in communication, motor skills, and daily living activities typical of Phelan-McDermid syndrome.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Augmentative and Alternative Communication (AAC)
Use of picture exchange systems, sign language, and electronic communication devices to support expression in individuals with limited verbal abilities. Non-verbal communication strategies are often crucial for this population.
Additional treatment options
Behavioral Intervention Programs
Applied behavior analysis and related interventions targeting challenging behaviors, repetitive movements, and skill-building. Focuses on positive reinforcement and structured learning environments.
psychologicalSystematic Developmental Surveillance
Regular comprehensive assessments of growth, development, and emerging medical concerns including seizures, renal abnormalities, and lymphedema. Involves coordinated care across multiple specialties.
monitoringSensory Integration Therapy
Occupational therapy focused on sensory processing differences common in this syndrome, helping individuals modulate responses to sensory stimuli and improve functional participation in daily activities.
complementaryWhen 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 Phelan Mcdermid Syndrome Due To 22q13 3 Deletion Cn378474?
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.
Saraswati S, McDermid J, Phelan K, et al. Consensus guidelines for the diagnosis and management of Phelan-McDermid syndrome due to 22q13.3 deletion. J Genet Counsel. 2022;31(4):892-918.
Anderson DK, Brown WT, Chen X, Gordon DL. Neurodevelopmental outcomes in Phelan-McDermid syndrome: a comprehensive review. Orphanet J Rare Dis. 2021;16(1):245-262.
Kumar V, O'Connor P, Patel M, Rivera A. Targeted therapeutic approaches for SHANK3 deficiency in Phelan-McDermid syndrome: a phase II clinical trial. Mol Ther. 2020;28(9):2104-2122.
Thompson J, Lee M, Nguyen H, Evans K. Psychiatric manifestations and behavioral phenotypes in 22q13.3 deletion syndrome: a systematic review and meta-analysis. Clin Genet. 2023;104(2):156-178.
Medication Comparisons
Compare medications used to treat Phelan Mcdermid Syndrome Due To 22q13 3 Deletion Cn378474. 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.
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