Chromosome 13q14 deletion syndrome is a rare genetic condition that happens when a small piece of the long arm (q arm) of chromosome 13 is missing in the 13q14 region. This region includes the RB1 gene, which normally helps control cell growth in the retina (the light-sensitive layer at the back of the eye). When this part is deleted, a child can have a higher risk of retinoblastoma (a childhood eye cancer), learning difficulties, developmental delay, and typical facial features.
Chromosome 13q14 deletion syndrome happens when a small piece of the long arm (q arm) of chromosome 13 is missing, especially around a region called 13q14. This area contains important genes, including the RB1 gene, which helps control how cells grow and stop turning into cancer cells. When this piece is missing, it can cause learning problems, slow growth, facial differences, eye problems (including retinoblastoma, a rare eye cancer), heart defects, hormone problems, and other organ issues.
This condition is rare, and every person can look very different, even if the missing chromosome piece is in a similar place. Some children are only mildly affected, while others have severe physical and learning difficulties. Doctors normally confirm the diagnosis with genetic tests (like karyotype, microarray, or sequencing).
The exact problems in each person depend on how big the deleted piece is and which nearby genes are lost. Some people have only eye problems, while others have wider problems such as growth delay, brain differences, heart defects, or problems in the gut and kidneys.
Other names
Doctors and scientists use several other names for this condition. These names usually describe that part of chromosome 13 is missing (deleted):
13q14 deletion syndrome
Chromosome 13q14 deletion syndrome
13q- syndrome (with 13q14 involvement)
Partial monosomy 13q14
Partial deletion of the long arm of chromosome 13 involving 13q14
Chromosome 13, partial monosomy 13q (13q14 region)
Types of chromosome 13q14 deletion syndrome
Doctors sometimes group people with 13q14 deletions into “types” based on how much of the chromosome is missing and how it looks under the microscope or with genetic tests. These are not strict official classes everywhere, but they help to understand patterns.
Isolated 13q14 microdeletion – only a small segment around 13q14 (including RB1 and nearby genes) is missing, often mainly causing retinoblastoma and mild developmental issues.
13q14–q2x larger interstitial deletion – a bigger piece including 13q14 and nearby bands is missing inside the long arm, often giving more learning, growth, and organ problems.
Distal 13q deletion including 13q14 and further down – the deleted piece runs from 13q14 towards the end of the chromosome; this can cause multiple birth defects and more serious disability.
Ring chromosome 13 with 13q14 loss – both ends of chromosome 13 break and join into a ring, losing tips including 13q14; this can combine features of 13q14 deletion with other problems.
Unbalanced translocation involving 13q14 – a parent has a balanced swap of chromosome pieces, and the child receives extra DNA from another chromosome but missing 13q14, causing a mixed picture.
Mosaic 13q14 deletion – only some of the body’s cells have the deletion and others are normal, so symptoms may be milder or very mixed.
Causes and risk factors
How the deletion happens
In most families, chromosome 13q14 deletion syndrome is not anybody’s fault. It usually happens by chance when the egg or sperm is formed, or very early after fertilization. The child is born with the deletion in all or most of their cells.
De novo deletion during egg formation
Sometimes, a piece of chromosome 13 breaks off in the mother’s egg cell when chromosomes are copied and separated. If the 13q14 region is lost at that time, the baby can be born with 13q14 deletion even though both parents have normal chromosomes.De novo deletion during sperm formation
A similar random break can happen in the father’s sperm cell. A sperm that carries the 13q14 deletion can fertilize a normal egg, and the baby then has the deletion in every cell.Early embryonic error (post-zygotic event)
Sometimes the chromosomes break after the egg and sperm join, when the tiny embryo is only a few cells old. If the break removes 13q14 at this time, the embryo grows with that deletion. This can lead to mosaicism when not all cells are affected.Parental balanced translocation involving chromosome 13
One parent may carry a balanced translocation, where pieces of chromosomes are swapped but no genetic material is lost or gained. That parent is usually healthy, but when eggs or sperm are formed, a child may inherit an unbalanced form that is missing 13q14.Unbalanced translocation in the child (new event)
Even without a parental translocation, a new unbalanced translocation can appear in the child, where part of chromosome 13q including 13q14 is lost and another chromosome may have extra material.Ring chromosome 13 with loss of 13q14
Both ends of chromosome 13 can break off and fuse to form a ring. When the end that includes 13q14 is missing, the child shows features of 13q14 deletion as well as other ring chromosome problems like growth delay and learning issues.Interstitial deletion of 13q14 region
An interstitial deletion means a middle piece inside the chromosome is missing while the ends remain. When the deleted piece includes 13q14, this creates the syndrome and often includes RB1 loss and high risk of retinoblastoma.Larger 13q deletion including 13q14 and 13q32
Some children lose a bigger region that spans from 13q14 into more distal bands like 13q32. These larger deletions are linked to more serious brain, limb, and organ malformations and more severe intellectual disability.Deletion including RB1 gene
The RB1 gene lies in 13q14 and controls cell growth in the retina. When this gene is deleted, the child has a strong risk of developing retinoblastoma, usually in both eyes, and this is a key feature of 13q14 deletion cases.Deletion including nearby genes such as SUCLA2
Some deletions remove RB1 and nearby genes like SUCLA2. Loss of these genes has been linked to more severe neurological problems and encephalomyopathy (brain and muscle disease) in 13q14 deletion patients.Parental low-level mosaic 13q14 deletion
Rarely, one parent may have the deletion in only some of their cells (mosaicism) and no clear symptoms. That parent can still pass the deletion to a child, who then has it in many more cells and shows the syndrome.Germline RB1 deletion as part of 13q14 loss
Some families first present with hereditary retinoblastoma. Detailed testing then shows that the RB1 mutation is actually part of a larger 13q14 deletion in all cells, explaining both cancer risk and extra developmental features.Chromosome mis-segregation in meiosis
During formation of egg and sperm, chromosomes must line up and separate correctly. Errors in this process (meiosis) can lead to loss of a segment like 13q14 from one chromosome, leaving the other chromosome 13 normal.Chromosomal breakage due to fragile sites
Some chromosome regions are more likely to break (fragile regions). Breaks near 13q14 can cause the central piece to be lost or mis-joined, producing an interstitial 13q14 deletion.Parental age-related chromosome errors (possible general factor)
In many chromosomal disorders, older parental age, especially maternal age, is linked with more chromosome errors. This has been clearly shown for some trisomies; for 13q14 deletions the data are limited, but doctors sometimes consider advanced parental age as a general risk factor for de novo chromosome changes.Exposure to general chromosome-damaging agents (theoretical)
Certain high-dose exposures like strong ionizing radiation or some chemotherapy can damage chromosomes. These are known from other chromosomal disorders, but clear proof for causing 13q14 deletion in humans is limited, so they are considered possible rather than proven causes.Complex rearrangements involving multiple chromosomes
Some children with 13q14 deletion have more complicated rearrangements where several chromosomes are involved. The 13q14 piece is lost as part of this complex pattern, and this may cause a more severe clinical picture.Inherited unbalanced rearrangement from a parent with complex karyotype
In rare cases, one parent has a complex but balanced karyotype after previous chromosome rearrangements. The child may inherit an unbalanced combination that includes loss of 13q14, producing the syndrome.Partial duplication of another region with loss of 13q14
Some unbalanced rearrangements give a child extra material from another chromosome and loss of 13q14 at the same time. The signs then come from both the missing 13q part and the extra piece of the other chromosome.Unknown mechanisms
Even with modern testing, doctors cannot always explain exactly how the deletion happened. It is still called de novo (new in the child), and no environmental or parental factor can be clearly identified. In many reported cases, the cause is simply “unknown error during chromosome formation.”
Symptoms and clinical features
The symptoms of chromosome 13q14 deletion syndrome are very variable. They depend on how big the deleted area is and which genes are missing. Some children have severe problems from birth, while others have milder signs that show later.
Retinoblastoma (eye cancer in early childhood)
Many children with 13q14 deletion develop retinoblastoma, because the RB1 tumor-suppressor gene is missing. This cancer usually appears before age five and may affect one or both eyes, showing as a white pupil reflex or crossed eyes. Early eye checks are very important.Developmental delay
Most affected children reach milestones such as sitting, walking, and speaking later than other children. They may need physiotherapy, occupational therapy, and speech therapy to help them learn new skills.Intellectual disability
Learning problems can range from mild to severe. Some children can attend mainstream school with support, while others need special education and lifelong help with daily tasks.Growth delay and low birth weight
Many babies with 13q deletions are small at birth because of growth restriction in the womb. They may stay shorter and lighter than their peers through childhood.Characteristic facial features
Typical facial features may include a high or broad forehead, long or prominent philtrum (groove between nose and upper lip), small jaw (micrognathia), wide-set eyes, small mouth, and unusual earlobes. These features help genetic doctors suspect the diagnosis.Hypotonia (low muscle tone)
Babies may feel “floppy” when held, with weak muscle tone and poor head control. Hypotonia can make feeding, sitting, and walking more difficult, and physiotherapy is often helpful.Feeding difficulties in infancy
Some infants have trouble sucking and swallowing, may tire easily during feeds, or may have reflux. They might need high-calorie feeds, thickened feeds, or sometimes tube feeding for a period.Microcephaly (small head size)
A smaller-than-normal head may be seen at birth or develop over time. This often reflects underlying brain differences that can contribute to developmental and learning problems.Seizures or epilepsy
Some children with 13q deletions have seizures. Seizure type and severity can vary, and many need regular follow-up with a neurologist and anti-seizure medicines.Congenital heart defects
Heart problems such as holes between heart chambers (atrial or ventricular septal defects), ductus arteriosus that stays open, or more complex defects have been reported in some patients. These may need medication or surgery.Gastrointestinal and anal anomalies
Some babies have problems like imperforate anus (no anal opening), Hirschsprung’s disease (missing nerve cells in parts of the bowel), or severe reflux. These issues can cause constipation, feeding problems, and may need surgery.Genitourinary anomalies
Problems with the kidneys, urinary tract, or genital organs may occur. Examples include missing or malformed kidneys, hypospadias (urinary opening on the underside of the penis), undescended testes, or small external genitalia.Skeletal and limb anomalies
Some children have differences in their hands, feet, or spine, such as clubfoot, fused or webbed fingers or toes (syndactyly), curved fingers, or vertebral malformations. These may affect movement and may need orthopaedic care.Hearing loss and ear problems
Recurrent ear infections and structural ear differences can lead to hearing loss in some patients. Hearing checks are important because hearing problems can make speech delay worse.Behavioral and autism-spectrum features
Some children with 13q deletions, especially larger ones, show behaviour similar to autism spectrum disorder, with poor eye contact, repetitive actions, or difficulty with social interaction. Behavioural support and structured learning can help.
Diagnostic tests
Early and correct diagnosis of chromosome 13q14 deletion syndrome is important to plan eye care, cancer screening, and long-term developmental support. Doctors use a mix of physical examination, bedside (manual) tests, laboratory and genetic tests, electrodiagnostic tests, and imaging tests.
Physical exam tests
General pediatric physical examination
A full head-to-toe exam looks at growth, weight, body proportions, muscle tone, breathing, heart sounds, abdomen, limbs, and skin. The doctor notes any birth defects or unusual findings that suggest a chromosome problem.Dysmorphology assessment (face and body features)
A clinical geneticist examines facial shape, eyes, nose, mouth, ears, hands, and feet, and compares them with known patterns of 13q deletion syndrome, such as high forehead, long philtrum, and small jaw.Growth measurements (height, weight, head circumference)
These measurements are plotted on growth charts. Small size at birth, slow growth, and reduced head size can support the suspicion of 13q deletion, especially when combined with other signs.Neurological physical exam
The doctor checks muscle tone, strength, reflexes, coordination, and head control. Low tone or abnormal reflexes may indicate brain involvement and support the need for genetic and brain imaging tests.Cardiovascular physical exam
Listening to the heart with a stethoscope, checking pulses, and looking for signs of heart failure helps pick up congenital heart disease that has been reported in many children with distal 13q deletions.
Manual tests (bedside or clinical functional tests)
Developmental screening tests
Simple tools like the Denver Developmental Screening Test or similar checklists can be used at the bedside to see how a child is doing in motor, language, social, and problem-solving skills. Delays suggest the need for deeper evaluation.Detailed neurodevelopmental assessment by specialists
Psychologists and therapists do structured play and tasks to measure learning level, speech, attention, and behaviour. This helps describe intellectual disability and autism-spectrum features.Ophthalmologic slit-lamp and fundus examination
An eye doctor examines the front and back of the eyes with special lights and lenses. They look for signs of retinoblastoma (white mass in the retina), cataracts, or other eye malformations linked to 13q14 deletion.Hearing assessment with bedside tools and audiology tests
Simple clapping or sound-producing toys are used in infants, and later formal hearing tests (audiometry) are done. These find hearing loss that can worsen learning and speech delay.Orthopaedic and mobility assessment
Doctors and physiotherapists observe posture, walking, joint range of motion, and foot or hand position. This helps plan treatment for clubfoot, curved fingers, or spinal problems that may appear in 13q deletions.
Laboratory and pathological tests (including genetic tests)
Complete blood count and basic chemistry tests
These routine blood tests check for anemia, infection, and basic organ function. While they do not diagnose the deletion, they identify general health problems and monitor children before surgery or chemotherapy for retinoblastoma.Conventional karyotyping (chromosome analysis)
A karyotype looks at chromosomes from blood cells under a microscope. It can show a large deletion in the long arm of chromosome 13, a ring chromosome 13, or an unbalanced translocation involving 13q14. This is often the first genetic test used.Chromosomal microarray (CMA, array-CGH)
Microarray testing uses many DNA probes to look for small gains and losses across all chromosomes. It can detect small 13q14 microdeletions that might not be visible on a standard karyotype and helps define the exact size of the missing piece.FISH (fluorescence in situ hybridization) for 13q14 / RB1
FISH uses fluorescent DNA probes that bind to the 13q14 region, including RB1. If the signal is missing in one of the two chromosome 13 copies, this confirms a 13q14 deletion and can also detect mosaicism.RB1 gene sequencing and deletion/duplication studies
When retinoblastoma is present, RB1 testing helps show whether the gene problem is a small mutation or part of a larger deletion. Finding a large deletion including RB1 supports the diagnosis of chromosome 13q14 deletion syndrome.Parental karyotype and microarray testing
Testing both parents’ chromosomes shows whether the deletion is inherited from a balanced translocation or mosaic parent, or whether it is new in the child. This is very important for counselling about the risk of the same problem in future pregnancies.
Electrodiagnostic tests
Electroretinography (ERG)
ERG measures electrical responses of the retina to light. In children with retinoblastoma or structural eye problems, ERG helps assess how well the retina is working and can guide treatment decisions.Electroencephalography (EEG)
EEG records brain electrical activity using scalp electrodes. It is used when a child has seizures or unusual spells. Abnormal patterns can support a diagnosis of epilepsy, which is reported in some patients with 13q deletions.
Imaging tests
Brain MRI (or CT) scan
Brain imaging can show structural abnormalities such as underdeveloped corpus callosum, cerebellar hypoplasia, or other brain malformations described in distal 13q deletion cases. These findings help explain developmental delay and seizures.Eye ultrasound and MRI of the orbits
Ultrasound of the eye and MRI of the orbits are used to confirm and stage retinoblastoma, to see the size of the tumor, any spread along the optic nerve, and to plan surgery or other treatments. These tests are standard in managing 13q14 deletion patients with eye tumors.Echocardiography (heart ultrasound)
An ultrasound of the heart checks for structural heart defects that can accompany 13q deletions, such as holes between chambers or outflow obstruction. Finding and treating these early can prevent serious complications.Prenatal ultrasound and nuchal translucency measurement
In some pregnancies, increased nuchal translucency or structural anomalies seen on early ultrasound lead to further genetic testing, which can reveal a fetal 13q deletion. This allows early counselling and planning for care after birth.
Non-Pharmacological Treatments (Therapies and Others)
Below are 20 non-drug treatments that are commonly used to support people with chromosome 13q14 deletion syndrome. Not every person will need all of them.
Genetic counselling and family education
A genetic counsellor explains what 13q14 deletion means, how it happened, and the chance it could happen again in future pregnancies. This helps parents understand the condition, plan future pregnancies, and share accurate information with relatives. Good understanding reduces fear, guilt, and confusion and supports better long-term decisions.Early intervention programs
These are special services for babies and toddlers, usually including play-based learning, physiotherapy, and speech activities. The purpose is to help the child reach milestones like sitting, walking, and talking as early as possible. The main mechanism is repeated stimulation of the brain during its most plastic (changeable) years, which can improve skills over time.Physiotherapy (physical therapy)
Physiotherapists help with low muscle tone, stiff muscles, and delayed walking. Sessions include stretching, strengthening, balance exercises, and posture training. This therapy works by training muscles and joints through repeated movement so that the child can sit, stand, and move more independently and safely, and reduce contractures and deformities.Occupational therapy (OT)
OT focuses on daily skills such as holding a spoon, writing, dressing, and using a wheelchair or other aids. Therapists may adapt tools (special grips, splints) and suggest changes at home or school. This improves independence by making tasks simpler and matching them to the child’s abilities.Speech and language therapy
Many children have delayed speech or problems understanding language. Speech therapists use simple games, pictures, sign language, or communication devices to help. The goal is to improve communication, reduce frustration, and support social interaction, which can also reduce behavior problems.Special education support
Children often need individualized education plans with small-group teaching, visual supports, and extra time for learning. Special educators adapt teaching methods to match the child’s level. This improves school participation, learning progress, and self-confidence.Vision rehabilitation and low-vision services
If the child has retinoblastoma or other serious eye problems, low-vision specialists provide training, magnifiers, high-contrast materials, and orientation-and-mobility support. These tools help the child use remaining vision or non-visual skills to move safely and learn.Hearing support and audiology
Hearing tests are important because hearing loss can worsen language delay. If needed, hearing aids, cochlear implants, or classroom sound systems are used. Better hearing makes it easier to learn language, follow instructions, and join in conversation.Feeding therapy and nutritional support
Many infants have feeding difficulty, reflux, or poor weight gain. Feeding therapists teach safer sucking, chewing, and swallowing; nutritionists plan calorie-dense meals or tube feeding when needed. This improves growth, reduces choking risk, and supports brain and body development.Behavioral therapy (including autism-focused therapy)
Some children show autism-like behavior, hyperactivity, or self-injury. Behavioral therapists use structured routines and positive rewards to teach safer, more helpful behaviors. This therapy works by repeating good behavior patterns and reducing triggers for challenging behavior.Psychological support for parents and siblings
Living with a complex genetic condition is stressful for the whole family. Psychologists or counsellors help family members cope with worry, sadness, and burnout. Better mental health in caregivers improves the child’s care and overall quality of life.Orthopedic supports (braces, splints, special seating)
Some children have clubfoot, abnormal thumbs, or spine and hip problems. Braces, custom shoes, and special seats help keep bones and joints in better positions. This can prevent deformity from worsening, reduce pain, and improve walking or sitting balance.Respiratory physiotherapy
If there are breathing problems or frequent chest infections, respiratory physiotherapists teach breathing exercises, coughing techniques, and postural drainage. These methods help clear mucus from the lungs and can lower the risk of pneumonia or hospital stays.Posture and positioning programs
Proper body positioning in bed, wheelchair, or chair helps prevent pressure sores, hip dislocation, and spine curvature. Therapists teach families how to use cushions, wedges, and standing frames. Good positioning protects joints and makes breathing and digestion easier.Social work and community resource support
Social workers connect families with financial support, disability benefits, community organizations, and respite care. This reduces practical stress and allows families to continue caring for their child at home.Regular eye screening and tumor surveillance
When the RB1 gene is deleted, there is a high risk of retinoblastoma. Children need regular eye exams under anesthesia with imaging as advised by specialists. Early detection allows treatment of eye tumors before they spread and can save both vision and life.Cardiac monitoring and rehabilitation
If congenital heart disease is present, regular follow-up with a cardiologist is needed. Activity plans and sometimes cardiac rehabilitation exercises are used to keep the heart as strong as possible. This helps prevent heart failure and improves stamina.Dental and oral care
Tooth enamel problems, misaligned teeth, and feeding issues can cause dental decay. Early and regular dental care plus fluoride treatments help protect teeth. Good oral health reduces pain, infection, and feeding difficulty.Palliative and supportive care in severe cases
For children with very severe disease or life-threatening problems, palliative care teams focus on comfort, pain control, and support for the family. This does not mean “giving up”; it means maximizing quality of life at every stage.Transition planning to adult services
As the child grows, the team plans the move from pediatric to adult medical services. This includes education, job training, and independent-living skills. Early planning makes the change smoother and reduces gaps in care.
Drug Treatments
There is no single medicine that treats the chromosome deletion itself. Medicines are used to manage specific problems like seizures, reflux, infections, hormone issues, or mood problems. Below are 20 common drug groups with examples. Exact dose and timing must always be set by a specialist.
Levetiracetam (Keppra) – antiepileptic
Levetiracetam is used to control many types of seizures in children and adults. The dose is usually based on body weight and divided twice daily, then slowly increased under medical supervision. It works by changing the way nerve cells send signals in the brain, helping to prevent seizure bursts. Common side effects can include sleepiness, irritability, and mood changes, so behavior is monitored carefully.Valproic acid / valproate – antiepileptic
Valproate can control generalized seizures and some difficult epilepsy types. It increases a calming brain chemical (GABA) and stabilizes nerve activity. Doses are carefully adjusted to blood levels and side effects like weight gain, tremor, or liver problems. Because it can harm an unborn baby, doctors are very cautious using it in females who could become pregnant in the future.Other antiepileptic drugs (AEDs)
Depending on seizure type, doctors may use other AEDs (for example, carbamazepine, lamotrigine, or topiramate). The purpose is to reduce seizure frequency and severity, which protects the brain and improves quality of life. Each AED has unique side effects, so doctors choose the one that best fits the child’s seizure type and other health problems.Baclofen – muscle relaxant for spasticity
Baclofen is used when children have very stiff muscles, spasms, or spasticity. It acts on GABA receptors in the spinal cord to reduce overactive reflexes and muscle tightness. The dose starts low and is increased slowly; high doses can cause sleepiness or weakness, and sudden stopping can cause serious withdrawal, so it must be changed only by doctors.Proton-pump inhibitors (PPIs) like omeprazole – for reflux
Many children have gastro-esophageal reflux and feeding problems. PPIs such as omeprazole reduce stomach acid by blocking the acid-producing pump in stomach cells. This can reduce pain, vomiting, and damage to the esophagus. Side effects may include headache, diarrhea, or, with long use, low mineral levels, so doctors try to use the lowest effective dose.H2 blockers (e.g., ranitidine alternatives) – for mild reflux
H2 blockers reduce acid by blocking histamine-2 receptors in the stomach. They are sometimes used for milder reflux or when PPIs are not suitable. Doctors now choose specific agents based on updated safety information, and they monitor for side effects like headache or diarrhea.Growth hormone (somatropin preparations)
In children with proven growth hormone deficiency and severe short stature, somatropin may be used. It is given as a daily or weekly injection in specific doses per kilogram of body weight. It works by stimulating growth in bones and tissues, but can raise the risk of some tumors or affect sugar levels, so cancer history and other risks are carefully checked.Thyroid hormone replacement (levothyroxine)
If the thyroid gland is under-active, levothyroxine is used to replace the missing hormone. Tablets or liquid are taken once daily, ideally on an empty stomach. The medicine controls metabolism, growth, and brain development, and doses are adjusted by blood tests to avoid symptoms of too little or too much hormone.Vitamin D and calcium medicines
If blood tests show low vitamin D or weak bones, doctors may prescribe vitamin D and calcium tablets or drops. These support bone growth, dental health, and muscle function. Over-treatment can cause high calcium and kidney problems, so blood levels are monitored regularly.Antibiotics for recurrent infections
Some children with 13q deletion may have weak immunity or structural anomalies that cause repeated infections (ear, chest, urinary). Carefully chosen antibiotics treat active infections, and sometimes low-dose preventive antibiotics are used for high-risk children. Choice and duration depend on age, kidney function, and past infection patterns to reduce resistance and side effects.Inhaled bronchodilators (for airway symptoms)
If the child has wheeze or airway narrowing, inhaled medicines like short-acting beta-agonists may be used. They relax the airway muscles so air can move more easily in and out of the lungs. They are usually given through a spacer or nebulizer, and side effects can include fast heartbeat or tremor.Anti-spastic botulinum toxin injections (selected cases)
For very tight muscles in specific areas, doctors sometimes inject botulinum toxin into those muscles. It temporarily blocks nerve signals and reduces stiffness, making it easier to stretch and use braces. Effects are temporary and repeated injections may be needed, always under expert supervision.Anti-reflux pro-motility drugs (limited, specialist use)
In some severe reflux or gut-motility problems, medicines that help stomach emptying may be used. They work by improving muscle movement in the stomach and intestines, which can reduce vomiting. Because of possible neurological or heart side effects, these drugs are used only when clearly needed and under close monitoring.Cardiac medicines (e.g., ACE inhibitors, diuretics)
If heart defects cause heart failure or high pressure in the lungs, doctors may prescribe medicines to reduce fluid overload and support heart function. These drugs work by relaxing blood vessels or helping the body remove extra salt and water. Dosing is tightly tailored and requires regular blood and heart checks.Pain medicines (paracetamol, carefully chosen NSAIDs)
Pain control is important after surgeries, during infections, or in chronic musculoskeletal problems. Paracetamol is usually first choice; NSAIDs may be used with caution depending on kidney and heart status. Proper pain control improves sleep, mood, and rehabilitation participation.Anti-spastic oral medicines other than baclofen
In some children, other muscle relaxants or benzodiazepines may be considered for severe spasticity or dystonia. They act on nerve signals to reduce tightness but can cause sleepiness and sometimes dependence, so specialists use them carefully and often only for short periods.Anti-nausea and anti-vomiting medicines
If reflux or chemotherapy (for retinoblastoma) causes frequent vomiting, anti-emetic drugs may be used. They block specific receptors in the brain or gut that trigger nausea. Doctors balance benefits with possible side effects like sleepiness or movement problems.Chemotherapy drugs for retinoblastoma
In children with 13q14 deletion and retinoblastoma, specialized eye-cancer teams use eye-targeted chemotherapy, sometimes delivered through the eye artery or as injections into the eye. These medicines kill tumor cells and may save the eye and vision. Doses, timing, and combinations are highly individualized and based on detailed oncology guidelines.Topical eye drops (for glaucoma, inflammation, or pressure)
Children with eye malformations or tumor treatments may need eye drops to control pressure or inflammation. These medicines work locally in the eye and must be given exactly as prescribed. Regular eye checks ensure that the drops are effective and safe.Psychiatric medications (for severe mood or behavior problems)
In older children or adults with severe anxiety, depression, or serious behavior issues, mental-health specialists may prescribe medications like SSRIs or mood stabilizers. The goal is to improve mood, sleep, and safety. Because these medicines can have important side effects, they are always combined with psychological therapy and close monitoring.
Dietary Molecular Supplements
These supplements are only used when needed and should be guided by blood tests and clinician advice.
Vitamin D – Supports bone strength and immune function by helping the body absorb calcium; usually given once daily or weekly in a dose based on age and blood level.
Calcium – Helps bones and teeth grow stronger, especially in children with low bone density or limited mobility; dose depends on dietary intake and lab results.
Iron – Used when there is iron-deficiency anemia, improving oxygen transport and energy; too much can be harmful, so levels are monitored.
Folic acid and B-vitamins – Support red blood cell production and nervous system health, especially if diet is limited; doses are chosen according to lab values.
Omega-3 fatty acids (fish oil or algae oil) – May support heart and brain health; used in small daily doses, often mixed with food.
Probiotics – Helpful in some children with chronic constipation or diarrhea; they work by gently shaping gut bacteria balance.
Zinc – Supports immune function and wound healing; used when tests show deficiency or diet is very limited.
Magnesium – Sometimes used for muscle cramps or constipation, but overdose can cause diarrhea or heart rhythm problems, so it must be monitored.
Multivitamin syrups or tablets – Cover small gaps in diet for children who eat very little variety; not a substitute for real food.
High-calorie medical formulas – Special drinks or tube-feeding formulas with balanced nutrients used when normal food cannot meet growth needs.
Immunity-Booster / Regenerative / Stem-Cell Related Treatments
There is no magic immunity booster for 13q14 deletion, and stem-cell or regenerative treatments are not routine. Some advanced options may be considered in very specific situations:
Routine vaccines (immunization) – The strongest “immune booster” is staying up to date with routine vaccines (and sometimes extra vaccines for high-risk children). Vaccines train the immune system to recognize and fight specific infections.
Immunoglobulin (IVIG or SCIG) therapy – If the child has proven antibody deficiency and frequent severe infections, doctors may give immunoglobulin infusions. These are concentrated antibodies from healthy donors that help fight infection.
Granulocyte-colony stimulating factor (G-CSF) – selected immune problems
In some rare cases with low neutrophils, G-CSF can stimulate the bone marrow to make more white blood cells, helping the body fight bacteria. This is a specialist treatment with careful monitoring.Hematopoietic stem cell transplantation (HSCT) – very selected cases
When 13q deletion is linked with severe bone marrow failure or certain cancers, HSCT may be considered. Donor stem cells replace the patient’s blood-forming cells. This is a major procedure with serious risks and is only done at specialized centers.Local regenerative eye treatments (research settings)
For retinoblastoma, research explores ways to preserve eye tissue and vision using targeted chemotherapy and local treatments. These aim to save as much normal retina as possible, but they are not classic “stem-cell drugs” and are done only by expert teams.Future gene-based therapy (experimental)
Because RB1 and other genes are involved, researchers are studying gene-based approaches for retinoblastoma and related conditions. These are experimental, not available as routine treatments, but they show how future care might become more targeted.
Surgeries (Procedures and Why They Are Done)
Enucleation (removal of the eye) for advanced retinoblastoma
If a tumor fills the eye and cannot be safely controlled, surgeons may remove the entire eye to prevent cancer spread. A cosmetic artificial eye (prosthesis) is later fitted so appearance is more natural.Focal eye surgeries and procedures
These include laser therapy, cryotherapy (freezing), or plaque radiotherapy for smaller retinoblastoma tumors. They aim to kill tumor cells while keeping the eye and as much vision as possible.Cardiac surgery for congenital heart defects
Defects like ventricular septal defect or tetralogy of Fallot sometimes need surgery to repair abnormal heart structures. This improves blood flow, oxygen delivery, and long-term survival.Gastrointestinal surgery (e.g., Hirschsprung’s disease, imperforate anus)
When parts of the intestine or anus are missing or not working, surgery creates or repairs the passage for stool. This helps relieve obstruction, improve nutrition, and prevent life-threatening infections.Orthopedic surgeries (feet, hips, spine, hands)
Severe clubfoot, hip dislocation, or hand/foot malformations sometimes need surgical correction. The aim is to improve standing, walking, hand use, and pain control, often combined with therapy and bracing.
Preventions and Practical Safety Tips
These steps cannot prevent the chromosome deletion itself, but can reduce complications:
Genetic counselling before future pregnancies.
Prenatal testing when recommended in high-risk families.
Up-to-date vaccinations and flu shots.
Early treatment of infections and careful fever monitoring.
Safe feeding positions to reduce choking and reflux.
Regular eye examinations for children with RB1 involvement.
Safe home environment (no loose rugs, safe bathroom) to prevent falls.
Dental hygiene (brushing, fluoride) to prevent tooth decay and pain.
Regular growth and development checks to spot new problems early.
Written emergency care plan shared with local hospital and school.
What to Eat and What to Avoid
Helpful to eat
Balanced meals with vegetables, fruits, whole grains, and protein (egg, fish, meat, lentils) to support growth and immunity.
High-calorie, nutrient-dense foods (like nut pastes, avocado, yogurt) for children with poor appetite, as advised by a dietitian.
Enough fluids (water, oral rehydration) to prevent dehydration, especially with vomiting or diarrhea.
Calcium-rich foods such as dairy or fortified alternatives for bone and teeth health.
Iron-rich foods like meat, beans, and leafy greens to support blood health.
Better to limit or avoid
Very hard, sticky, or round foods (whole nuts, hard candies) in children with swallowing problems, due to choking risk.
Very sugary drinks and snacks, which increase dental decay and may worsen weight problems.
Very salty processed foods, which can strain the heart and kidneys.
Caffeine-containing drinks (energy drinks, strong tea/coffee) in children, which can disturb sleep and heart rhythm.
Any food the child is allergic or intolerant to, as confirmed by a doctor.
When to See a Doctor
You should contact a doctor urgently or go to emergency care if the child has:
New or worsening seizures.
Very high fever, breathing difficulty, or looks unusually sleepy or hard to wake.
Sudden eye redness, eye swelling, or a white reflection in the pupil (possible retinoblastoma sign).
Severe vomiting, dehydration (dry mouth, no urine), or blood in stool.
Sudden weakness, loss of skills (cannot sit, stand, or talk as before).
Regular planned visits with a pediatrician, geneticist, neurologist, and ophthalmologist are also important, even when the child seems “stable,” because many problems develop slowly and are easier to treat if caught early.
Frequently Asked Questions (FAQs)
Is chromosome 13q14 deletion syndrome curable?
No. The missing chromosome part cannot be replaced with current medical technology. Treatment focuses on problems like seizures, heart defects, eye tumors, feeding issues, and learning difficulties to improve comfort and quality of life.Will every child with 13q14 deletion get retinoblastoma?
Not every child, but if the RB1 gene is deleted, the risk is high. This is why frequent eye exams in early childhood are critical so any tumor can be found and treated as early as possible.Can my next baby also have 13q14 deletion?
Sometimes the deletion is a new (de novo) change, and the recurrence risk is low. In other families, a parent carries a balanced rearrangement, and the risk is higher. A genetic counsellor can check the parents’ chromosomes and explain the exact risk.Will my child always have learning problems?
Many children have some learning difficulties, but the level is very variable. Early intervention, special education, and therapy can help each child reach their personal best level of independence.Why are there so many different doctors in the team?
13q14 deletion can affect the brain, eyes, heart, gut, hormones, and bones. A multi-disciplinary team brings different skills so that all body systems are checked and treated, not just one part.Are epilepsy medicines safe for long-term use?
Antiepileptic drugs like levetiracetam and valproate are widely used and can be safe when monitored properly. Doctors balance seizure control with side effects and adjust the dose as the child grows.Should we avoid vaccines because of the chromosome problem?
In most cases, children with 13q14 deletion should receive routine vaccines, and sometimes extra ones if immunity is weak. Vaccines protect against serious infections, which can be especially dangerous in medically fragile children.Is special diet alone enough to treat this condition?
No. A healthy diet supports growth and immune function but cannot replace the missing chromosome piece or treat major problems like heart defects or tumors. Diet is one part of a full care plan.Can physical therapy really change my child’s abilities?
Physiotherapy cannot remove the genetic problem, but it can strengthen muscles, improve joint movement, and help the child learn new motor skills, which can make everyday life much easier.Is stem-cell or gene therapy available now for 13q14 deletion?
At present, these treatments are experimental and not standard care for this syndrome. Research is ongoing, mostly for retinoblastoma and related cancers. Participation in clinical trials is decided by specialized centers.Can my child live to adulthood?
Many people with 13q deletions can reach adulthood, especially with good medical and social support. Outcomes depend on how large the deletion is and what organs are affected.Will my child be able to walk or talk?
Some children walk and talk with support; others remain more dependent. Early therapy, assistive devices, and consistent practice improve the chance of achieving these skills, but exact prediction is not possible.How often should we see doctors?
In early childhood, visits may be every few months (or more often) for eye exams, growth checks, and therapy reviews. As the child grows and becomes stable, visits may be spaced out but should never stop completely.What can parents do at home to help?
Follow home-exercise and communication programs from therapists, keep regular routines, use simple language and visual supports, and ensure good nutrition and sleep. Caring for your own mental health also helps you care better for your child.Where can we find more information and support?
Rare-disease organizations and chromosome-support groups provide leaflets, online communities, and family stories. Your geneticist or pediatrician can point you to trusted groups and avoid misleading or unsafe information online.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: January 15, 2026.
