14q12 Microdeletion Syndrome C4305240
A rare chromosomal condition where a segment of chromosome 14 is missing. It may cause developmental delays and other health concerns. Treatment is supportive and individualized.
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
Seizures
Recurrent seizures, often presenting as infantile spasms, which are brief jerking movements that typically occur in clusters.
Seek immediate medical attention if seizures last more than 5 minutes or if there are breathing difficulties during episodes.
Congenital heart defects
Structural heart abnormalities such as ventricular septal defects, atrial septal defects, or patent ductus arteriosus.
Cardiac evaluation is essential; seek immediate care if symptoms of heart failure develop such as rapid breathing or poor feeding.
Developmental delay
(neurologic)Delays in reaching developmental milestones such as sitting, crawling, and walking compared to typical children of the same age.
Frequency: 90-100% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in a floppy appearance and difficulty with motor activities such as holding the head up.
Frequency: 80-90% of patients
Failure to thrive
(constitutional)Poor weight gain and growth velocity, with infants falling below standard growth percentiles for age and sex.
Frequency: 75-85% of patients
Feeding difficulties
(gastrointestinal)Problems with sucking, swallowing, or accepting solid foods, often requiring specialized feeding techniques or supplements.
Frequency: 70-80% of patients
Speech delay
(neurologic)Delayed onset of speech and language development, with limited vocabulary and difficulty forming words.
Frequency: 60-70% of patients
Microcephaly
(neurologic)Abnormally small head circumference present at birth or developing in early infancy due to reduced brain growth.
Frequency: 50-60% of patients
Renal abnormalities
(genitourinary)Kidney structural issues such as horseshoe kidney, renal hypoplasia, or urinary tract abnormalities detected on imaging.
Frequency: 15-25% 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.
Multidisciplinary Specialist Surveillance
Coordinated care involving neurology, cardiology, and developmental pediatrics for regular assessment of seizures, structural anomalies, and growth patterns.
Developmental Occupational Therapy
Therapeutic interventions focusing on fine motor skills, self-care abilities, and sensory integration to maximize functional independence.
Additional treatment options
Seizure Management Protocol
Anticonvulsant medication therapy when seizures are present, selected based on seizure type, with regular efficacy and side effect monitoring.
medicationBehavioral Intervention Program
Structured behavioral modification techniques addressing attention difficulties, repetitive behaviors, and social interaction challenges.
psychologicalStructured Environmental Modifications
Creating predictable routines, visual schedules, and sensory-friendly environments to reduce anxiety and support optimal functioning.
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 14q12 Microdeletion Syndrome C4305240?
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.
Mitter D, Priller C, Kutsche K. FOXG1 syndrome: genotype-phenotype correlation in 201 patients. Mol Syndromol. 2015;6(2):73-84.
Kortüm F, Das S, Flückiger M, et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe speech delay, absent language, distinctive facial features, and corpus callosum hypoplasia. Am J Med Genet A. 2011;155A(12):3052-3060.
ACMG Board of Directors. Clinical genetics evaluation of identifying autism spectrum disorder associated with single-gene disorders. Genet Med. 2022;24(4):898-911.
Bahi-Buisson N, Nectoux J, Girard B, et al. Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Br J Haematol. 2010;148(1):117-124.
Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68(6):944-950.
American Academy of Pediatrics Council on Children with Disabilities. Clinical genetics testing in developmental disorders. Pediatrics. 2022;149(1):e2021056035.
Matsumoto N, Takano J, Saitsu H, et al. 14q12 microdeletion syndrome: a case report and review of the literature. J Hum Genet. 2006;51(5):445-450.
GeneReviews. FOXG1-Related Disorder. University of Washington, Seattle. Updated 2023.
Sahoo T, Peters SU, Madduri NS, et al. Array CGH detection of cryptic 14q12 deletions: clinical phenotype and molecular characterization. Am J Med Genet A. 2006;140A(18):1934-1941.
International Society of Cytogeneticists. Guidelines for clinical cytogenetics. Cytogenet Genome Res. 2021;161(1-2):1-12.
Medication Comparisons
Compare medications used to treat 14q12 Microdeletion Syndrome C4305240. 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