6q16 Deletion Syndrome C5438727
A rare disorder caused by deletion of genetic material from chromosome 6. This primarily affects brain development and may cause developmental delays, behavioral differences, and distinctive facial features. Care involves multidisciplinary support.
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.
Warning signs - seek immediate care
Obstructive Sleep Apnea
Sleep-disordered breathing due to airway obstruction, causing sleep fragmentation.
Seek immediate care if snoring is loud, breathing stops during sleep, or daytime sleepiness is severe.
Congenital Heart Defects
Structural heart abnormalities such as ventricular septal defects.
Cardiac evaluation is essential; seek immediate care for cyanosis, rapid breathing, or poor feeding.
Hyperphagia
(constitutional)Excessive, uncontrollable hunger leading to early-onset obesity if not managed.
Frequency: 80-90% of patients
Global Developmental Delay
(neurologic)Significant delays in reaching developmental milestones such as sitting, walking, and speaking.
Frequency: 85-95% of patients
Hypotonia
(neurologic)Low muscle tone presenting as floppy infant syndrome, affecting motor skills.
Frequency: 75-85% of patients
Early-Onset Obesity
(constitutional)Excessive weight gain beginning in early childhood due to hyperphagia.
Frequency: 70-80% of patients
Intellectual Disability
(neurologic)Varying degrees of intellectual impairment affecting learning and problem-solving.
Frequency: 60-70% of patients
Behavioral Problems
(neurologic)Includes temper outbursts, rigidity, and autistic-like behaviors.
Frequency: 50-60% of patients
Growth Hormone Deficiency
(endocrine)Insufficient growth hormone production leading to short stature.
Frequency: 30-40% of patients
Distinctive Facial Features
(congenital)May include narrow forehead, almond-shaped eyes, and downturned mouth.
Frequency: 25-35% of patients
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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Seizure Activity Monitoring
Regular neurological monitoring including EEG studies to detect and characterize seizure activity, which is common in this deletion syndrome. Accurate diagnosis guides treatment decisions.
Antiepileptic Drug Therapy
Antiepileptic medication therapy tailored to seizure type and individual response. Treatment aims for optimal seizure control with minimal side effects through careful medication selection and monitoring.
Additional treatment options
Motor Skill Development Program
Physical therapy focusing on gross and fine motor skill development, balance, and coordination. Programs are individualized to address specific motor challenges and promote independence.
physical_therapyCognitive-Behavioral Interventions
Psychological therapy addressing developmental delays, behavioral concerns, and promoting adaptive skills. Interventions support emotional regulation and social development.
psychologicalWeight Management and Nutrition
Structured weight management programs including dietary guidance and activity promotion, as Prader-Willi-like features including obesity may occur. Individualized plans address nutritional needs and weight goals.
lifestyleWhen 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 6q16 Deletion Syndrome C5438727?
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.
Hoffmann K, Heller R. Deletion 6q16: a specific syndrome? American Journal of Medical Genetics Part A. 2005.
Garcia-Heras J, Day DW. Familial deletion 6q16.3: inherited susceptibility or distinct mutation? Clinical Dysmorphology. 2000.
OMIM. 6q16 Deletion Syndrome. Online Mendelian Inheritance in Man.
Orphanet. 6q16 Deletion Syndrome. Rare Disease Database.
Lange K, et al. 6q24-related transient neonatal diabetes: expanded clinical spectrum. American Journal of Medical Genetics Part A. 2009.
Jones KL, Jones MC, del Campo Casanelles M. Smith's Recognizable Patterns of Human Malformation. 7th ed. Elsevier.
Bremer A, et al. Clinical characterization of 6q16 deletion syndrome. European Journal of Medical Genetics. 2011.
Calleja-Mata E, et al. 6q16.3 microdeletion syndrome: a patient with severe phenotype and review of the literature. Molecular Cytogenetics. 2014.
GeneReviews. 6q16 Deletion Syndrome. University of Washington.
ACMG. Clinical genetics testing guidelines for chromosomal microarrays. American Journal of Human Genetics.
Medication Comparisons
Compare medications used to treat 6q16 Deletion Syndrome C5438727. 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 20, 2026. · Read our editorial policy