Chromosome 15q24 deletion syndrome is a rare genetic condition where a small part of the long arm (q arm) of chromosome 15, in the 15q24 region, is missing. This missing piece is called a “microdeletion.” Because genes are instructions for how the body grows and works, losing several genes in this area can affect growth, learning, behavior, facial shape, and some internal organs.
Most people with this syndrome have mild to moderate developmental delay, speech delay, learning difficulties or intellectual disability, and short stature. Many also have weak muscle tone (hypotonia), joint looseness, and characteristic facial features, such as a long face, broad nasal bridge, and full lower lip.
The condition is very rare. Only a few dozen people have been described in medical research so far, so doctors are still learning about the full range of symptoms and long-term outcomes.
Other names
Chromosome 15q24 deletion syndrome is also known by several other names. Different articles or clinics may use different terms, but they usually refer to the same or closely related conditions:
15q24 microdeletion syndrome
del(15)(q24) syndrome
Monosomy 15q24
Chromosome 15q24 microdeletion
Sometimes grouped with Witteveen–Kolk syndrome (WITKOS), a related condition linked to loss of function in the SIN3A gene in this region.
Doctors may also talk about “15q24 rearrangements”, which include both deletions (missing pieces) and duplications (extra copies) in the 15q24 region. These different changes can sometimes cause overlapping but not identical features.
Types
Researchers sometimes divide 15q24 deletions into types based on the size and exact position of the missing piece. This can help explain why some people are more mildly or more severely affected:
Small 15q24 microdeletion – a tiny missing piece, often around 1–2 megabases (Mb) of DNA.
Medium 15q24 microdeletion – a slightly larger missing segment, often 2–4 Mb, usually involving a “core” region that contains key genes.
Large 15q24 deletion – a bigger missing segment, sometimes more than 4–6 Mb, which may remove extra genes and cause more complex health problems.
Isolated 15q24 deletion – the person has only this deletion and no other large chromosome changes.
15q24 deletion with other copy-number variants – the person has the 15q24 deletion plus another deletion or duplication somewhere else in the genome, which can make symptoms more severe.
Inherited 15q24 deletion – the deletion is passed from a parent who may be mildly affected or sometimes almost unaffected.
De novo 15q24 deletion – the deletion appears for the first time in the child and is not found in either parent; this is the most common situation.
Even though types can be described in this way, doctors still treat each person as an individual, because the same type of deletion can still give different symptoms in different people.
Causes
The basic cause of this syndrome is always the same: a piece of chromosome 15q24 is missing. But there are many ways this can happen. Below are 20 related “causes” or mechanisms, explained in very simple language.
Loss of genes in 15q24 region
The direct cause is that several important genes in the 15q24 region are deleted. When these genes are missing, their instructions are not available, so the body and brain cannot develop in the usual way.De novo (new) deletion in the child
In many families, the deletion is “de novo,” meaning it happens for the first time in the child when the egg or sperm is formed or just after conception. Neither parent had the deletion before.Error during egg cell formation
Sometimes the deletion occurs when the mother’s egg cells are dividing. During this process chromosomes can break and rejoin in the wrong way, leading to a missing piece of chromosome 15q24 in the egg.Error during sperm cell formation
The same kind of error can happen when the father’s sperm cells are made. A break and re-joining mistake can remove the 15q24 segment from the sperm cell.Non-allelic homologous recombination (NAHR)
The 15q24 region contains repeated DNA blocks called low-copy repeats. During cell division, these repeats can line up wrongly and swap pieces in the wrong place. This process, called NAHR, can delete the region between the repeats.Other DNA repair errors (e.g., non-homologous end joining)
When DNA breaks, the cell tries to repair it. Sometimes the repair process joins the ends in a way that leaves out a section, leading to a microdeletion in 15q24.Low-copy repeat (LCR) structure of 15q24
The arrangement of repeated DNA sequences in 15q24 makes this region especially fragile and prone to deletions and duplications compared with other parts of the genome.Inherited unbalanced translocation from a parent
A parent might carry a balanced translocation (a swap of chromosome parts without loss or gain of material) and be healthy. If a child inherits an unbalanced version of this translocation, the child can end up missing the 15q24 piece.Inherited 15q24 deletion from an affected parent
In some families, a parent has a 15q24 deletion and mild symptoms. That parent can pass the same deletion to their child, who may have more obvious symptoms.Post-zygotic (after fertilization) mutation
In rare cases, the deletion can happen after the embryo has already started to divide. This can lead to mosaicism, where some cells have the deletion and some do not, which can change how severe symptoms are.Combined genetic changes at other chromosomal sites
Some people with 15q24 deletion also have other deletions or duplications elsewhere in the genome, which can add to or modify the features caused by the 15q24 loss.Haploinsufficiency of key genes (for example SIN3A)
Many symptoms are thought to come from having only one working copy (instead of two) of important genes in this region, such as SIN3A, which is involved in brain development. This “haploinsufficiency” means one copy is not enough for normal function.Disruption of genes controlling brain development
The deleted region contains genes that guide how brain cells grow, connect, and organize. Losing these genes can cause developmental delay, learning problems, and behavior issues.Disruption of genes controlling body growth
Some genes in 15q24 help regulate growth of bones and tissues. Their loss can explain short stature, poor weight gain, and skeletal changes.Disruption of genes affecting facial and skeletal patterning
The typical facial features and finger or joint differences are linked to missing genes that normally guide how the face, skull, and limbs form before birth.Disruption of genes important for muscle tone
Some genes in the deleted area are involved in neuromuscular function, so their loss may contribute to low muscle tone (hypotonia) and loose joints.Disruption of genes involved in genital development
The higher rate of genital differences in boys (such as small penis or hypospadias) suggests loss of genes in 15q24 that help form the reproductive organs.Disruption of genes affecting hearing and ear development
Hearing loss and ear abnormalities likely result from missing genes that are normally active in the ear and hearing pathways.Disruption of genes involved in immune function
Some people have recurrent infections, which may be related to genes in or near 15q24 that influence immune system development and response.Complex interaction with the rest of the genome
Finally, the overall effect of losing 15q24 depends on how this deletion interacts with all the other genes in a person’s genome. This may explain why symptoms vary even between people with similar deletions.
Symptoms
Not every person has all of these symptoms, but these are common features seen in many reported cases.
Developmental delay
Many children learn to sit, crawl, walk, and talk later than other children. They may need extra time and support at each stage of development.Intellectual disability or learning difficulties
Some people have mild to moderate problems with learning, understanding new ideas, or solving problems. They may need special education or tailored learning plans.Speech and language delay
Speech often develops slowly. Some children speak their first words late or may use short phrases for longer than usual, and may benefit from speech therapy.Short stature and growth problems
Many individuals are shorter and lighter than expected for their age, both before and after birth. Growth may need to be monitored closely.Low muscle tone (hypotonia)
Babies and children often feel “floppy” when lifted. They may have trouble holding up their head or sitting without support at the usual age.Joint laxity and skeletal differences
Some people have very flexible joints, curvature of the spine (scoliosis), or differences in their fingers and toes. These changes can affect posture and movement.Distinctive facial features
Common features include a long face, high or broad forehead, wide-spaced eyes (hypertelorism), down-slanting eye openings, broad nasal bridge, long smooth space between nose and upper lip (philtrum), and a full lower lip.Behavioral differences and autism features
Some children show features of autism, such as limited eye contact, repetitive behaviors, or sensory sensitivities. Attention-deficit/hyperactivity disorder (ADHD) and other behavior issues are also reported.Microcephaly (small head size)
A smaller-than-average head size is seen in some people, which reflects differences in brain growth.Brain structure changes on MRI
Some individuals show specific changes on brain scans, such as differences in how certain brain regions are formed, although these findings vary.Hearing problems
Hearing loss or ear malformations can occur, which may affect speech and language development if not detected and treated early.Vision problems
Problems such as crossed eyes (strabismus) or rapid, uncontrolled eye movements (nystagmus) may be present and may need eye specialist care.Genital differences in males
Boys may have a small penis (micropenis), hypospadias (opening of the urethra on the underside of the penis), or undescended testes, which might need surgical treatment.Congenital malformations of organs
Some children have heart defects, intestinal problems, or other internal organ differences present from birth, which may require surgery or careful monitoring.Recurrent infections and general health issues
A number of people have repeated respiratory or ear infections, feeding problems, or other health issues, especially in early childhood, and may need regular pediatric follow-up.
Diagnostic tests
Because Chromosome 15q24 deletion syndrome affects many parts of the body, diagnosis and evaluation involve several types of tests. Below are 20 tests, grouped into physical exam, manual tests, laboratory/pathological tests, electrodiagnostic tests, and imaging tests.
Physical exam
General physical examination
A doctor carefully looks at growth, head size, body shape, skin, joints, and overall health. This helps them notice patterns of features that suggest a chromosome syndrome such as 15q24 deletion.Growth measurements (height, weight, head circumference)
Regular measurements are compared with standard growth charts. Slow growth or small head size can support the suspicion of a microdeletion syndrome.Dysmorphology examination (facial and body features)
A clinical geneticist examines facial features (eyes, nose, mouth, ears), hands, feet, and other body parts to look for the typical pattern seen in 15q24 deletion syndrome.Neurological examination
The doctor checks muscle tone, reflexes, coordination, and strength. Low muscle tone, coordination problems, or abnormal reflexes can guide further testing.
Manual tests
Developmental screening tools
Simple checklists and play-based tasks are used to see how the child is developing in motor skills, language, and social skills compared with typical milestones.Detailed neuropsychological or cognitive testing
For older children, psychologists may use structured tests to measure IQ, memory, attention, and problem-solving skills. This helps plan school support and therapies.Behavioral and autism assessments
Tools such as structured interviews and observation schedules are used to check for autism spectrum disorder, ADHD, or other behavior conditions, which are more common in this syndrome.Motor and joint function assessment
Physiotherapists and occupational therapists test balance, walking, fine hand movements, and joint flexibility. This helps design exercise and therapy programs.
Lab and pathological tests
Chromosomal microarray analysis (CMA)
This is the key test to diagnose 15q24 deletion syndrome. It looks across all chromosomes for small missing or extra pieces of DNA. A deletion in the 15q24 region confirms the diagnosis.Targeted molecular tests (FISH, MLPA, qPCR)
Once a deletion is suspected, tests such as fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), or quantitative PCR can be used to confirm the size and location of the deletion.Parental chromosome testing
Chromosomal microarray or karyotyping of the parents can show whether the deletion was inherited or happened de novo, and whether a parent has a balanced rearrangement that could affect future pregnancies.Basic blood tests (full blood count, biochemistry)
Routine blood tests are done to check overall health, screen for anemia, infection, or organ problems, and to guide safe management of any surgeries or medications.Metabolic or endocrine screening when indicated
If a child has severe growth problems, low energy, or other suggestive signs, doctors may add hormone or metabolic tests to rule out other treatable conditions alongside the deletion.Genetic counseling session and family risk assessment
While not a “lab test,” a genetic counseling visit uses all test results to explain the diagnosis, recurrence risk, and options for family planning, sometimes including carrier or prenatal testing.
Electrodiagnostic tests
Electroencephalogram (EEG)
If a person has seizures or episodes that might be seizures, an EEG records the brain’s electrical activity. It can show abnormal patterns that confirm epilepsy and guide treatment choices.Nerve conduction studies / electromyography (when needed)
In cases with unusual muscle weakness or movement problems, these tests can help check how well nerves and muscles work, to see whether symptoms are mainly from low tone or a separate neuromuscular problem.
Imaging tests
Brain MRI (magnetic resonance imaging)
MRI scans can show detailed pictures of the brain. In some people with 15q24 deletion, MRI reveals structural changes that support the diagnosis and help rule out other causes of developmental problems.Echocardiogram (heart ultrasound)
Because some children have heart defects, an ultrasound of the heart checks the heart’s structure and function, and guides care if a defect is found.Skeletal X-rays and spine imaging
X-rays of bones, especially the spine and hands, can show scoliosis, vertebral changes, or finger and toe differences that are part of the syndrome’s skeletal pattern.Abdominal and renal ultrasound
Ultrasound of the abdomen and kidneys looks for structural problems in the urinary or digestive systems, which have been reported in some cases and may need follow-up.
Non-Pharmacological Treatments (Therapies and Others)
Important note: These options support people with Chromosome 15q24 deletion syndrome. They do not replace medical care. The exact plan must be made by the child’s doctors and therapists.
1. Early intervention programs
Early intervention means starting help as soon as the diagnosis or delay is noticed, usually in the first 3 years of life. The child is assessed, and a team (developmental pediatrician, therapists, psychologist) makes a plan for skills like movement, language, and self-care. The purpose is to use the brain’s early plasticity, when it can learn faster. The mechanism is simple: frequent, structured play-based activities strengthen brain connections and help the child reach milestones closer to their peers.
2. Physiotherapy (physical therapy)
Physiotherapy helps with low muscle tone (hypotonia), weak core muscles, loose joints, and delayed motor milestones such as sitting, crawling, and walking. The therapist uses gentle exercises, stretches, balance work, and play activities to build strength and coordination. The purpose is to improve posture, walking, endurance, and reduce joint problems later. The mechanism is repeated movement practice that trains muscles, joints, and the nervous system to work together more efficiently.
3. Occupational therapy (OT)
OT supports daily living skills such as dressing, feeding, writing, using tools, and playing independently. The therapist may use sensory integration techniques, hand-strengthening games, and adaptive equipment (special grips, seating, utensils). The purpose is to increase independence and safety in everyday life. The mechanism is step-by-step skill building, breaking complex tasks into smaller parts and repeating them until the brain and muscles learn smoother patterns.
4. Speech and language therapy
Many people with 15q24 deletion syndrome have speech delay or difficulty understanding and expressing language. A speech therapist works on sounds, words, sentences, and understanding instructions. They may also train swallowing and feeding if there are feeding problems. The purpose is to improve communication and lower frustration. The mechanism is frequent, structured language practice and feedback that helps the brain form stronger networks for speech and understanding.
5. Alternative and augmentative communication (AAC)
If speech is very delayed or limited, therapists may introduce picture boards, symbol systems, communication apps, or simple sign language. The purpose is to give the child a way to express needs, choices, and feelings even before speech improves. The mechanism is using visual or manual symbols as extra “channels” for communication, reducing stress and supporting language development instead of blocking it.
6. Behavioral and autism-focused therapies (e.g., ABA-informed approaches)
Some people with 15q24 deletion syndrome have autism traits, ADHD, or other behavior challenges. Structured behavioral therapies use positive reinforcement, visual schedules, and clear routines. The purpose is to reduce difficult behaviors, build social skills, and improve attention. The mechanism is consistent rewards and clear consequences that help the child learn which behaviors are helpful and which are not.
7. Special education and individualized education plans (IEPs)
School support is essential. Children often need smaller classes, extra time, simplified instructions, and therapies built into the school day. The purpose is to match teaching speed and style to the child’s learning level. The mechanism is using adapted curriculum, visual supports, and repetition so the child can make progress without being overwhelmed.
8. Sensory integration therapy
Some children are very sensitive to sound, light, touch, or movement; others seem to “seek” strong sensations. A sensory-trained occupational therapist uses swings, brushing, deep pressure, or quiet spaces to balance responses. The purpose is to help the child stay calm, focused, and comfortable in daily environments. The mechanism is gradual exposure and structured sensory input that helps the brain organize sensory signals better.
9. Feeding and nutrition therapy
Feeding difficulties, reflux, or poor weight gain may affect children with 15q24 deletion syndrome. A feeding team (speech therapist, dietitian, pediatrician) works on safe swallowing, texture progression, and calorie-dense but healthy meals. The purpose is to prevent malnutrition and reduce feeding stress. The mechanism is slow desensitization, posture changes, and tailored diets, sometimes plus equipment like special bottles or seating.
10. Orthopedic and physiotherapy support for joints and spine
Loose joints, foot problems, or scoliosis can appear. Orthopedic teams may use braces, special shoes, or targeted exercises. The purpose is to maintain alignment and prevent pain or disability. The mechanism is external support and muscle strengthening to stabilize joints and guide bones as the child grows.
11. Vision rehabilitation and low-vision services
Eye differences such as strabismus or other problems may occur. After eye doctor assessment, therapies may include patching, glasses, visual tracking exercises, or orientation and mobility training. The purpose is to maximize usable vision and prevent lazy eye. The mechanism is repetitive practice that strengthens visual pathways and improves how the brain uses eye signals.
12. Hearing support and speech-hearing integration
Some children have ear infections or hearing loss. Hearing aids, ear tubes, or FM systems in school may be needed. The purpose is to make speech sounds clearer so language can develop. The mechanism is amplifying or clarifying sound input so the brain can build better language networks.
13. Psychological counseling for child and family
Living with a rare genetic condition can be stressful for the child and the family. Psychologists can help with anxiety, mood, behavior, and coping skills. The purpose is to protect mental health and family relationships. The mechanism is talk therapy, behavior strategies, and problem-solving exercises that teach healthy ways to handle stress.
14. Social skills and group therapy
Social groups or therapy groups help children practice sharing, turn-taking, eye contact, and basic conversation in a safe setting. The purpose is to improve peer relationships and reduce isolation. The mechanism is repeated social practice with guidance, feedback, and modeling from adults and peers.
15. Sleep hygiene programs
Sleep problems are common in children with neurodevelopmental disorders. Families learn to use regular bedtimes, calming routines, limited screen time before bed, and consistent rules. The purpose is to improve sleep quality, which supports learning and behavior. The mechanism is training the body clock with routine and sleep-friendly habits.
16. Genetic counseling for parents and relatives
A genetic counselor explains what the deletion means, recurrence risk, and options such as prenatal testing in future pregnancies. The purpose is to give clear, kind information so families can plan. The mechanism is reviewing chromosome studies and family history, then translating complex genetics into simple language.
17. Regular multidisciplinary follow-up clinics
Because the syndrome can affect many systems (growth, brain, heart, bones, behavior), regular follow-up in a specialized clinic is helpful. The purpose is to monitor development, pick up new problems early, and adjust treatment. The mechanism is coordinated care where several specialists share information and plan together.
18. Parent training and support groups
Meeting other families and learning practical strategies at home can be life-changing. Parent training programs teach behavior tools, communication methods, and advocacy skills. The purpose is to empower caregivers and reduce burnout. The mechanism is peer support plus structured teaching, which increases confidence and consistency at home.
19. Assistive devices and adaptive equipment
Equipment such as wheelchairs, walkers, adapted cutlery, special chairs, and bathroom aids can make daily life safer and easier. The purpose is to improve independence and prevent injuries. The mechanism is modifying the environment and using tools to compensate for muscle weakness, balance issues, or coordination problems.
20. Community inclusion and disability services
Access to disability benefits, respite care, vocational training in adulthood, and inclusive activities (sports, arts, clubs) is important. The purpose is to improve quality of life and long-term independence. The mechanism is giving practical supports and opportunities so the person can participate in society instead of being isolated.
Drug Treatments (Symptom-Based, Not a Cure)
Very important: There is no specific medicine that fixes the chromosome deletion itself. Medicines are used to treat problems that often happen with Chromosome 15q24 deletion syndrome, such as seizures, ADHD, reflux, constipation, mood issues, or growth problems. All doses and schedules must be decided by a pediatrician or specialist. The brief information below is based mainly on FDA-approved labels and general clinical practice, but it is not a prescription.
For each medicine: description (~100 words), class, purpose, mechanism, typical timing, and key side-effect ideas in simple language.
1. Levetiracetam (e.g., Keppra®)
Levetiracetam is a widely used anti-seizure medicine. It helps control different types of seizures that may occur in people with 15q24 deletion syndrome. It belongs to the antiepileptic drug class. The doctor chooses the dose by weight and slowly adjusts it, usually given twice daily. Its exact mechanism is not fully known, but it seems to bind to a brain protein (SV2A) and stabilize electrical activity. Common side effects include sleepiness, irritability, mood changes, and dizziness. Blood tests are sometimes done to check safety.
2. Diazepam / midazolam (rescue medicines for seizures)
These medicines are benzodiazepines used as “rescue” treatment if a seizure lasts too long or clusters happen. They calm over-active brain activity fast. They may be given as liquid, nasal spray, or rectal gel, depending on local practice. The purpose is to stop prolonged seizures and prevent emergency situations. The mechanism is increasing the calming GABA signal in the brain. Possible side effects are sleepiness, breathing slowing, and confusion, so they are used only as directed in an emergency plan.
3. Valproic acid / sodium valproate
Valproate is another antiepileptic used for generalized or mixed seizure types and sometimes for mood stabilization. The dose is set by weight and adjusted gradually; blood levels and liver function are usually monitored. It works by increasing GABA and affecting sodium channels in the brain, stabilizing firing patterns. Common side effects include weight gain, tremor, hair thinning, stomach upset, and, rarely, serious liver or blood problems, so regular follow-up is essential.
4. Topiramate
Topiramate is an antiepileptic that can also help with migraine prevention in some patients. It blocks certain brain receptors and channels to quiet over-excited neurons. The purpose in 15q24 deletion syndrome is seizure control or migraine management where appropriate. Doses start low and increase slowly to reduce side effects such as tingling in fingers, weight loss, slowed thinking, or mood changes. Adequate hydration is encouraged to lower the risk of kidney stones.
5. Baclofen
If a child has increased muscle stiffness or spasticity rather than only low tone, doctors may use baclofen. It is a muscle relaxant that acts on GABA receptors in the spinal cord to reduce excessive muscle signals. The purpose is to improve comfort, range of motion, and daily activities. It is usually given two or three times a day with gradual dose changes. Side effects may include sleepiness, weakness, or dizziness, so careful supervision is needed.
6. Methylphenidate (e.g., Ritalin®, Concerta®)
Some individuals with 15q24 deletion syndrome have ADHD-type symptoms such as poor attention and hyperactivity. Methylphenidate is a central nervous system stimulant that increases dopamine and noradrenaline in parts of the brain that control focus and self-control. It is usually given in the morning, sometimes with a second dose at midday. The goal is better attention at school and improved behavior. Common side effects include reduced appetite, trouble sleeping, stomach pain, and possible mood changes; growth and blood pressure are monitored regularly.
7. Atomoxetine
Atomoxetine is a non-stimulant ADHD medicine that works by blocking noradrenaline re-uptake in the brain. It can be used if stimulants are not suitable or cause strong side effects. It is usually taken once or twice daily. The purpose is to improve attention, organization, and impulse control. Side effects can include stomach upset, tiredness, appetite changes, and rarely mood changes or liver issues, so follow-up is important.
8. Risperidone
Risperidone is an atypical antipsychotic sometimes used for significant irritability, aggression, or severe behavior outbursts, especially in children with autism features. It blocks dopamine and serotonin receptors in the brain to reduce severe mood and behavior swings. The dose is started very low and slowly increased. Side effects may include weight gain, increased appetite, sleepiness, and hormone changes, so monitoring of weight, blood sugar, and lipids is recommended.
9. Aripiprazole
Aripiprazole is another atypical antipsychotic used for irritability and aggression in some neurodevelopmental conditions. It works as a partial dopamine and serotonin receptor modulator, smoothing out extremes of brain signaling. Doctors use low starting doses with gradual changes. The purpose is to reduce severe challenging behavior that is not controlled with therapy alone. Side effects include restlessness, sleep changes, weight gain in some people, and rare movement problems, so regular check-ups are needed.
10. Sertraline (or similar SSRI)
If anxiety, obsessive behaviors, or depression are significant, doctors may choose a selective serotonin reuptake inhibitor (SSRI) like sertraline. It works by increasing serotonin levels in the brain. The purpose is to reduce anxiety, obsessive thoughts, and low mood, helping the child or adult cope better with daily life. Doses start very low and are increased slowly to reduce side effects such as stomach upset, sleep changes, or agitation.
11. Proton pump inhibitors (e.g., omeprazole, lansoprazole)
Reflux and stomach irritation can make feeding and growth more difficult. Proton pump inhibitors (PPIs) lower stomach acid by blocking the acid pumps in stomach cells. The purpose is to reduce heartburn, protect the esophagus, and improve comfort, which helps feeding. The dose and duration are set by the pediatrician. Side effects can include diarrhea, constipation, or headache; very long-term use is weighed carefully against benefits.
12. H2 blockers (e.g., famotidine)
Famotidine is an H2 receptor blocker that also reduces stomach acid, but with a different mechanism from PPIs. It may be used for milder reflux or as a step-down option. It blocks histamine H2 receptors on stomach cells. The purpose and side-effect profile are similar to PPIs, with possible headache, diarrhea, or constipation.
13. Polyethylene glycol and other stool softeners
Constipation is common in children with low muscle tone or limited mobility. Polyethylene glycol is an osmotic laxative that draws water into the bowel to soften stool. The purpose is regular, comfortable bowel movements, which can improve appetite and mood. The dose is adjusted to keep stools soft but not watery. Side effects include bloating and, rarely, diarrhea if the dose is too high.
14. Vitamin D and calcium medications (when prescribed)
If bone density is low or vitamin D deficiency is found, doctors may prescribe vitamin D and sometimes calcium in medicinal doses (not just over-the-counter supplements). The purpose is to support bone health, especially in children with low mobility or certain medications. The mechanism is improved calcium absorption and bone mineralization. Too much can be harmful, so blood tests guide treatment.
15. Growth hormone (somatropin; e.g., Genotropin®, Nutropin AQ®)
If a child with 15q24 deletion syndrome also has confirmed growth hormone deficiency, pediatric endocrinologists may use recombinant human growth hormone (somatropin). It is a hormone injection that promotes bone and tissue growth. The purpose is to help the child grow closer to their genetic potential, when appropriate. Doses are calculated by body weight and given as small injections several times a week. Side effects can include joint pain, swelling, or high blood sugar, so careful specialist follow-up is vital.
16. Antibiotics for recurrent infections (short courses only)
Some individuals have recurrent chest, ear, or sinus infections. Short courses of appropriate antibiotics are used when there is clear evidence of bacterial infection. The purpose is to treat infection quickly and prevent complications like pneumonia or hearing loss. The mechanism is killing or stopping growth of bacteria. Side effects depend on the drug but can include diarrhea, allergic reactions, or yeast infections. Overuse is avoided to reduce resistance.
17. Inhaled bronchodilators or steroids (if asthma-like symptoms)
If a child has wheezing or asthma-like lung disease, inhalers may be used. Short-acting bronchodilators open the airways quickly, and inhaled steroids reduce long-term inflammation. The purpose is easier breathing and fewer emergency visits. Side effects can include fast heart rate with some bronchodilators and oral thrush or hoarse voice with steroids (rinsing the mouth after use helps).
18. Melatonin (where approved as a medicine) or similar sleep medicines
Sleep problems may be treated with melatonin in places where it is a regulated medicine. Melatonin is a hormone that helps set the body clock. It is usually given 30–60 minutes before bedtime. The purpose is to shorten sleep onset and improve sleep quality. Side effects are usually mild, like morning sleepiness or vivid dreams, but long-term use should be supervised.
19. Antispasmodics and reflux-related GI medicines as needed
Some children have cramps, colic, or bowel spasms. In selected cases, doctors may use antispasmodics or motility agents. These medicines relax smooth muscle or adjust gut movement. The purpose is to reduce pain and improve feeding. Side effects can include dry mouth, constipation, or drowsiness, so benefits and risks are carefully balanced.
20. Other condition-specific medicines (cardiac, endocrine, etc.)
Depending on associated problems (such as heart defects, thyroid issues, or seizures that are hard to control), doctors may use additional medicines following standard guidelines for those specific conditions. The purpose is to treat the organ problem as in any other child, but with extra attention to developmental needs. The mechanism and side effects depend on the individual drug, so families receive detailed counseling from the specialist before starting them.
Dietary Molecular Supplements
Important: Supplements do not cure Chromosome 15q24 deletion syndrome. They only help if there is a proven deficiency or a clear medical reason. Always discuss supplements with the treating doctor or dietitian.
For each item, think of a possible dose range as “doctor decides based on age and weight,” not self-prescription.
Multivitamin with minerals – A balanced children’s or adult multivitamin can help fill small gaps in diet, especially in fussy eaters or children with restricted textures. It supports overall metabolism, immune function, and growth by providing essential vitamins and trace minerals. The mechanism is simple: give the body missing cofactors so enzymes work properly. Dose and form (liquid, chewable, tablet) are chosen by age; overdose should be avoided.
Vitamin D – Vitamin D is crucial for bone strength and immune modulation. In children with limited outdoor exposure or feeding problems, levels are often low. Supplement vitamin D only after blood testing and on a schedule set by the doctor. It works by improving calcium absorption in the gut and supporting bone mineralization. Too much can cause high calcium levels, so regular monitoring is important.
Calcium – If dietary intake is low or bones are weak, calcium supplements may be added. Calcium helps build strong bones and teeth and supports nerve and muscle function. It works in combination with vitamin D. Doctors choose the dose based on age, diet, and lab tests. Too much calcium can cause constipation or kidney issues, so it should not be used without medical advice.
Iron (if iron-deficiency anemia is present) – Many children with feeding issues develop low iron and anemia. Iron supplements restore red blood cell production and improve energy and concentration. The mechanism is supporting hemoglobin production so more oxygen is carried to tissues. Dose depends on weight and anemia severity; taking too much iron is dangerous, so it must be prescribed and kept away from children.
Vitamin B12 and folate – These vitamins are vital for red blood cells and nervous system health. In some children with limited diets or absorption problems, B12 or folate levels can fall. Supplementation can improve anemia and sometimes energy or mood. They act as cofactors in DNA and protein synthesis. Blood tests guide the need and dose; high doses are not usually needed unless deficiency is proven.
Omega-3 fatty acids (fish oil or algae-based) – Omega-3s are long-chain fats that support brain and eye development and may help in some children with ADHD-type symptoms. They work by building into cell membranes and affecting inflammatory pathways in the brain. Doses and formulations vary; quality-controlled, low-contaminant products are preferred. Side effects can include fishy aftertaste or mild stomach upset.
Zinc – Zinc is important for growth, immune function, and wound healing. Deficiency can cause poor growth and more infections. Supplementation is considered if blood levels are low or diet is poor. Zinc acts as a cofactor in many enzymes and immune cells. Too much zinc can upset the stomach or interfere with copper absorption, so medical supervision is necessary.
Probiotics – Probiotics are “good bacteria” that may help with constipation, diarrhea, or antibiotic-related gut upset. They work by balancing the gut microbiome and supporting the gut barrier. Different strains have different evidence, so a pediatrician or dietitian should recommend specific products. Side effects are usually mild gas or bloating; they are generally avoided in severely immunocompromised patients without specialist advice.
L-carnitine – L-carnitine helps the body transport fatty acids into mitochondria for energy production. In some neuromuscular or metabolic situations, carnitine supplementation can reduce fatigue. It may be suggested if a lab test shows low levels. Mechanistically, it supports cellular energy pathways. Side effects may include fishy body odor or mild digestive issues. It should only be used under medical supervision.
Coenzyme Q10 (CoQ10) – CoQ10 is involved in mitochondrial energy production and acts as an antioxidant. In some neurological conditions, CoQ10 has been tried to support energy and reduce oxidative stress, though evidence is variable. Doses are chosen by weight and product. Common side effects are mild stomach upset or headache. It should be seen as supportive, not curative, and used only after discussion with a specialist.
Immunity-Booster / Regenerative / Stem-Cell–Type Drug-Related
Very important safety note: There are no proven stem-cell or “regenerative” drugs that cure Chromosome 15q24 deletion syndrome. Unregulated stem-cell clinics can be dangerous and are not recommended. The options below describe how doctors sometimes use advanced or supportive treatments in other conditions or rare situations, always inside hospitals or research.
Routine vaccination programs (not a drug, but key for immunity) – The most powerful, safe “immunity booster” is completing standard vaccines (and extra ones if advised). Vaccines train the immune system to recognize germs and respond quickly, preventing serious infections that children with complex needs may struggle to fight.
Palivizumab (RSV monoclonal antibody) in selected infants – For some high-risk infants with serious heart or lung problems, doctors may use palivizumab, a lab-made antibody against RSV. It is not specific to 15q24 deletion syndrome but may be used if the child meets criteria. It works by binding the virus and blocking infection.
Intravenous immunoglobulin (IVIG) for proven immune deficiency – If testing shows a real antibody deficiency with frequent severe infections, immunologists may sometimes use IVIG infusions. This pooled antibody product strengthens defenses temporarily. It works by giving ready-made antibodies from healthy donors. It is only used under close specialist care because of cost and possible side effects like headaches or allergic reactions.
Hematopoietic stem cell transplant – only if another serious blood disease is present – Stem cell (bone marrow) transplant is not used for 15q24 deletion syndrome itself. However, if a child also has a severe, life-threatening blood disorder, doctors may consider transplant. Healthy donor stem cells rebuild the blood and immune system. This treatment has major risks and is only done in specialized centers.
Recombinant growth factors (e.g., growth hormone or blood cell growth factors) – As described above, growth hormone or sometimes blood cell–stimulating factors (like G-CSF in other conditions) can be seen as “regenerative-type” medicines because they encourage growth or blood cell production. They support specific deficiencies but do not repair the chromosome deletion.
Gene-targeted therapies (future / research direction) – Right now, there is no approved gene therapy for 15q24 deletion syndrome. Research in other genetic diseases is exploring ways to replace or repair missing genes using viral vectors or gene editing. In the future, similar approaches might be studied for microdeletion syndromes, but this remains experimental. Families should be cautious about any clinic claiming a “gene cure” outside of regulated trials.
Surgeries (Procedures and Why They Are Done)
Children with Chromosome 15q24 deletion syndrome may or may not need surgery. It depends on which associated birth differences are present, not on the deletion alone.
Congenital heart defect repair – Some children have heart conditions such as ventricular septal defect or tetralogy of Fallot. Heart surgeons repair holes, narrowings, or abnormal connections to improve blood flow and oxygen delivery. This helps the child grow better, tire less, and reduces risk of heart failure.
Cleft palate or palate abnormality surgery – If the roof of the mouth has a gap or abnormal shape, ENT or plastic surgeons may repair it. This surgery improves feeding, speech, and reduces ear infections. It works by creating a more normal palate structure so swallowing and speech sounds are easier.
Genitourinary surgery (e.g., hypospadias repair) – In boys with hypospadias or other genital differences, urologists may operate to move the urethral opening into a more typical position and correct curvature. The purpose is to improve future urinary and sexual function and sometimes appearance.
Orthopedic surgery (for severe scoliosis or limb deformities) – Some children may develop spine curvature or bone differences that cause pain or mobility problems. Orthopedic surgeons may straighten the spine, stabilize joints, or correct foot deformities. The aim is better posture, walking ability, and reduced pain.
Eye surgery (e.g., for strabismus) – If the eyes are misaligned and do not respond well to glasses or patching alone, eye surgeons may adjust the eye muscles. This helps alignment, can improve depth perception, and may protect vision in the weaker eye.
Preventions (Realistic Goals)
Because this is a genetic condition, we cannot prevent the deletion itself once it exists. However, we can prevent or reduce complications and support best possible development.
Genetic counseling before future pregnancies – Parents who already have one child with 15q24 deletion syndrome can meet a genetic counselor before another pregnancy. This helps them understand recurrence risk and testing options.
Prenatal or preimplantation testing where appropriate – In some families, prenatal tests or preimplantation genetic testing (PGT) can check for the deletion in a pregnancy or embryo, allowing informed decisions.
Early diagnosis and early intervention – The sooner the condition is recognized, the earlier therapies and monitoring can begin. This can prevent secondary problems like contractures, severe behavior issues, or avoidable learning gaps.
Complete vaccination schedule – Keeping up-to-date with vaccines, plus any extra vaccines suggested by specialists, helps prevent severe infections in a child who may already be medically complex.
Regular growth, nutrition, and bone health monitoring – Checking weight, height, and nutritional status regularly helps catch undernutrition or obesity early. This allows timely diet changes and avoids long-term problems such as osteoporosis or metabolic disease.
Routine heart, vision, and hearing checks – Early screening for heart defects, eye problems, and hearing loss allows prompt treatment and reduces impact on learning and development.
Good oral care – Regular tooth-brushing, fluoride, and dentist visits help prevent dental pain and infections, which can be harder to manage in children with communication difficulties.
Safe environment and injury prevention – Using seat belts, car seats, helmets, and home safety measures is especially important if the child has poor balance, seizures, or behavior challenges.
Mental health and caregiver support – Preventing caregiver burnout and untreated anxiety or depression in the child or parents lowers the risk of crises and hospitalizations.
Avoiding unproven “miracle” cures and unsafe treatments – Staying with evidence-based care and trusted medical teams prevents harm from expensive, ineffective, or dangerous therapies often marketed to families of children with rare conditions.
When to See Doctors (and When to Seek Urgent Help)
People with Chromosome 15q24 deletion syndrome should have regular planned visits with their pediatrician, geneticist, and specialists, even when things seem stable. But there are also times when you should seek help sooner.
New or worsening seizures, especially if a seizure lasts more than a few minutes or several seizures occur close together.
Breathing problems such as fast breathing, chest pulling in, blue lips, or unusual pauses.
Feeding problems, choking, or signs of dehydration (very few wet nappies or urine, very dry mouth, extreme tiredness).
Sudden loss of skills the child already had (for example, stops walking or talking without clear reason).
Unexplained high fever, severe pain, or a child who is unusually sleepy and hard to wake.
Rapid changes in behavior, strong aggression, or self-endangering actions that you cannot manage safely at home.
Any new concern that worries you as a parent or caregiver – it is always okay to contact the child’s doctors and ask.
In an emergency (severe breathing trouble, seizure that will not stop, very hard to wake the child), local emergency services should be contacted immediately.
What to Eat” and “What to Avoid
Diet must be individualized by a pediatrician or dietitian, especially when feeding is difficult. These are general, simple ideas.
Eat: Balanced meals with fruits, vegetables, whole grains, and proteins – These foods give vitamins, minerals, and energy for growth and brain function.
Avoid: Diets made mainly of ultra-processed snacks and sugary drinks, which give calories but little nutrition.Eat: Soft, easy-to-chew textures if chewing is weak – Mashed foods, soft meats, and cooked vegetables can make feeding safer and more comfortable.
Avoid: Very hard, sticky, or dry foods that are hard to chew and may increase choking risk.Eat: Small, frequent meals or snacks – Many children do better with smaller portions more often.
Avoid: Forcing large meals when the child is tired or upset, which can increase feeding refusal or vomiting.Eat: Adequate protein (eggs, beans, fish, lean meat, dairy or alternatives) – Protein supports muscle strength and healing.
Avoid: Extremely low-protein diets unless specifically advised for another medical condition.Eat: Healthy fats such as olive oil, nuts (if safe), seeds, and avocado – These are energy-dense and help with weight gain when needed.
Avoid: Excess trans fats and deep-fried foods, which may increase long-term heart risk.Eat: Plenty of fluids (water; in some cases, milk or prescribed formula) – Enough fluids keep bowels moving and support kidney health.
Avoid: Very sugary drinks and energy drinks, which can harm teeth and blood sugar.Eat: Fiber-rich foods (fruits with skin, vegetables, oats, whole grains) – Fiber helps prevent constipation, which is common in low-tone children.
Avoid: Very low-fiber diets or sudden huge increases in fiber without enough water, which can cause bloating.Eat: Special high-calorie formulas or fortifiers if growth is slow – Dietitians may add calorie boosters to milk or purees.
Avoid: Adding random powders or supplements without professional advice, since some may be unsafe.Eat: Foods tolerated well by the child’s own digestive system – Some children may react to certain foods; keeping a simple food diary can help spot patterns.
Avoid: Strict or fashionable restriction diets (like full elimination of many foods) without a clear medical reason and dietitian support.Eat: Meals in a calm, supportive environment – Sitting comfortably, limiting screens, and using gentle encouragement make mealtimes easier.
Avoid: Pressure, punishment, or negative talk around eating, which can worsen feeding problems and anxiety.
Frequently Asked Questions (FAQs)
1. Is Chromosome 15q24 deletion syndrome a lifelong condition?
Yes. The missing piece of chromosome 15 is present from conception and remains for life. Treatment cannot replace the deleted genes, but good medical care, therapies, and education can greatly improve daily functioning and quality of life.
2. Did parents do something wrong to cause this deletion?
In most cases, no one did anything wrong. Many deletions happen de novo, meaning by chance at the time of conception. In a smaller number of cases, a parent may carry a balanced rearrangement. Genetic counseling can explain the specific situation for each family.
3. Can Chromosome 15q24 deletion syndrome be cured with medicine or surgery?
No. Medicines and surgeries can treat symptoms and associated problems (like seizures, heart defects, or cleft palate), but they cannot restore the missing chromosome segment. The main goals are comfort, safety, best development, and participation in everyday life.
4. Will my child walk and talk?
Many children with this syndrome do learn to walk and talk, but often later than peers and with varying levels of support. Early physiotherapy, speech therapy, and special education improve chances. Because each person is unique, only the child’s own doctors and therapists can estimate long-term abilities.
5. Is learning always severely affected?
No. Learning can range from mild to more significant impairment. Some adults with 15q24 deletion syndrome have mild intellectual disability and good language skills, while others need lifelong support. Consistent education, therapies, and family support make a big difference.
6. Are autism or ADHD common in this syndrome?
Yes, many children show features of autism spectrum disorder, ADHD, or other behavioral differences. This does not happen in everyone, but it is common enough that screening and early behavioral support are recommended.
7. Can my child have a normal life expectancy?
Current reports suggest that many individuals can reach adulthood, but long-term data are still limited because the condition is rare and newly recognized. Life expectancy depends more on associated health problems (such as heart defects or severe infections) and their management than on the deletion alone.
8. Will my child be able to live independently as an adult?
This varies widely. Some people may live semi-independently with support for complex tasks, while others will need full-time assistance. Preparing early with life-skills training, vocational support, and community services helps maximize independence.
9. What kind of doctors should follow my child?
Most children benefit from a team: pediatrician, clinical geneticist, neurologist, cardiologist (if heart issues), endocrinologist (if growth or hormone issues), orthopedist, ophthalmologist, ENT/hearing specialist, and therapists (physio, OT, speech). The exact mix depends on the child’s needs.
10. Is this syndrome very rare?
Yes. Only a relatively small number of patients have been reported worldwide, although more are being recognized as genetic testing improves. Because it is rare, many local doctors may not have seen a case before and appreciate up-to-date information from genetics centers.
11. Should brothers and sisters be tested?
If genetic testing shows that a parent carries a rearrangement related to the deletion, doctors may recommend testing siblings. If the deletion is clearly de novo and there are no signs in siblings, testing may not be needed, but this decision is made with the genetic counselor.
12. Can adults with 15q24 deletion syndrome have children?
In theory, if a person with the deletion can have children, there is a 50% chance of passing the deletion on to each child. However, reproductive outcomes and choices depend on the person’s health, understanding, and support. Genetic counseling in adulthood is recommended.
13. Are there support groups for families?
Yes. International rare disease groups, chromosome disorder organizations, and the Simons Searchlight community have information and family networks focused on 15q24 deletion or similar conditions. These groups can offer emotional support and practical tips.
14. How often should my child have genetic follow-up?
Usually, a genetics team will review the child every few years or sooner if new problems arise. They may update families about new research, management guidelines, or clinical trials, and they can coordinate with local doctors.
15. What is the most important thing parents can do?
The most important actions are: build a trusting relationship with your child’s medical and therapy team, keep appointments and follow management plans, protect your child’s emotional well-being, and remember that your child is more than their diagnosis. With love, patience, and evidence-based care, many children with Chromosome 15q24 deletion syndrome make meaningful progress and enjoy rich, connected lives.
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.
