Chromosome 10q23 deletion syndrome is a rare genetic condition that happens when a small piece is missing (deleted) from the long arm (q arm) of chromosome 10, around the band called 10q22.3–10q23.3. This missing piece removes several important genes that help normal growth, brain development, and organ function. Because the genes are missing, the child can have facial differences, slow development, learning problems, and problems in many organs.
Chromosome 10q23 deletion syndrome is a rare genetic condition where a small piece of chromosome 10 (region 10q22.3–10q23.2) is missing. This area contains important genes such as BMPR1A and often PTEN, which help control cell growth and organ development. When this region is deleted, children may have a large head (macrocephaly), unusual facial features, developmental delay, behavior problems (for example autism), and many polyps in the stomach or intestines (juvenile polyposis). People can also have higher lifetime risks of bowel, stomach, thyroid, breast, or other cancers.
Doctors describe this syndrome as a “microdeletion” or “partial monosomy,” which means only a small section of the chromosome is missing, not the whole chromosome. Even though the missing part is small, it contains powerful genes like PTEN and BMPR1A, which are important for controlling cell growth and forming body tissues. Losing these genes can lead to hamartomas (benign overgrowths), intestinal polyps, and sometimes a higher risk of certain cancers later in life.
The syndrome is usually not caused by anything the parents did during pregnancy. In many children, the deletion appears “de novo,” meaning it happens for the first time in the child, by chance, when the egg or sperm is formed. In some families, the deletion can be related to a balanced chromosome change in one parent, which looks normal in that parent but increases the chance of an unbalanced deletion in the baby.
Other names and types
This syndrome has several other names because different research groups first described slightly different but overlapping deletions in the same chromosome region. Common alternative names include: “10q22.3q23 microdeletion syndrome,” “10q22.3q23.3 microdeletion syndrome,” “chromosome 10q22.3–q23.2 deletion syndrome,” “Del(10)(q22.3q23.3),” “deletion 10q22.3q23.3,” “juvenile polyposis of infancy,” and “juvenile polyposis, infantile.” All these names describe deletions that include the 10q23 region and cause a similar group of problems.
Doctors and researchers also describe types of 10q23 deletion based on what exactly is missing and how the child is affected:
Small 10q23 microdeletion including PTEN only – In some children the deleted area is small and mainly affects PTEN. These children may have large head size, hamartomas, and features of PTEN hamartoma tumor syndrome, sometimes with milder overall problems.
10q22.3–10q23.2 microdeletion including BMPR1A – Some deletions mainly involve BMPR1A and nearby genes. These children often have juvenile intestinal polyps, developmental delay, and congenital anomalies.
Larger 10q22.3–10q23.3 deletions including both PTEN and BMPR1A – When both PTEN and BMPR1A are missing, children may show a combination of features of juvenile polyposis and PTEN hamartoma tumor syndrome, with many polyps in the gut plus macrocephaly and developmental delay.
De novo (new) deletions – In most reported children, the deletion appears for the first time in the child and is not found in either parent. This is called a de novo deletion and is usually due to a copying error when egg or sperm cells form.
Deletions caused by a parental balanced translocation – In a smaller group, one parent carries a balanced chromosome rearrangement (no missing material for the parent), but during conception the baby receives an unbalanced version that includes the 10q23 deletion. These families have a higher chance of the syndrome repeating in future pregnancies.
Mild versus classic versus severe clinical types – Some children have mild learning and facial differences, others have the “classic” pattern with clear developmental delay and multiple organ involvement, and a few have more severe problems like aggressive juvenile polyposis and early serious medical complications. The severity often relates to how large the deletion is and which genes it removes.
Causes of chromosome 10q23 deletion syndrome
Here “causes” means how or why the chromosome deletion happens, and the biological effects that follow.
Random error during egg formation (de novo deletion) – Many deletions happen when the mother’s eggs are formed. A small break occurs in the chromosome 10q22.3–q23 region, and a piece is lost. This is not under the parents’ control and usually happens by chance.
Random error during sperm formation – In some cases, the deletion occurs when the father’s sperm cells are made. The break and loss of the 10q23 segment in one sperm cell can lead to a child with the syndrome, even though both parents are physically healthy.
Non-allelic homologous recombination (NAHR) in the 10q22–q23 region – The 10q22–q23 area contains repeated DNA blocks called low-copy repeats (LCRs). During meiosis, these repeats can mis-align and recombine in the wrong way, cutting out the segment between them. This mechanism is a known cause of recurrent 10q22.3–q23.3 deletions.
Chromosome breakage and deletion – If a chromosome breaks and the broken piece is lost instead of repaired, a deletion occurs. For many deletions, including in 10q23, this breakage can happen spontaneously without a clear external trigger.
Balanced translocation in a parent – A parent may have a balanced translocation involving chromosome 10 and another chromosome, with no missing genes in their own body. When egg or sperm cells are formed, the chromosomes can separate unevenly, and the child may receive an unbalanced set that lacks the 10q23 segment.
Chromosomal inversion in a parent – A parent can carry an inversion (a flipped segment) involving the 10q region. When these inverted chromosomes pair and separate, the child can end up with a deletion around 10q23 because part of the looped segment is lost.
Germline mosaicism in a parent – In rare cases, a parent may have some egg or sperm cells that carry the 10q23 deletion and some that do not. This is called germline mosaicism. The parent looks healthy, but more than one child can be born with the deletion.
Loss of PTEN gene function due to deletion – A key cause of many clinical features is the loss of the PTEN gene, a tumor-suppressor gene at 10q23.3. Without PTEN, cells grow and divide more easily, leading to hamartomas, polyps, and higher cancer risk.
Loss of BMPR1A gene function – Deletion of BMPR1A, another important gene in the 10q23 region, leads to abnormal signaling in gut and other tissues. This contributes strongly to juvenile intestinal polyposis and gastrointestinal problems in affected children.
Loss of multiple nearby genes (contiguous gene syndrome) – The deleted area usually includes several genes side by side. Losing many genes at once causes a broad range of symptoms, from facial differences to heart defects and brain changes. This is why the condition is called a “contiguous gene deletion syndrome.”
Abnormal brain development due to deleted genes – Genes in the deleted region are important for brain growth and wiring. Their absence can lead to intellectual disability, speech delay, and sometimes autism-like behaviors.
Abnormal heart development from missing cardiac-related genes – Some genes within 10q22.3–10q23.3, such as BMPR1A and GRID1, are thought to play roles in heart structure and function. Deleting them may cause atrial septal defects, ventricular septal defects, or other cardiac anomalies.
Disrupted mammary gland development genes – The NRG3 gene in this region is involved in mammary gland development in animal studies. Deletion of this gene has been suggested as a reason for congenital breast aplasia in some patients.
Gene-environment interaction – While the primary cause is genetic deletion, environmental factors (like general health, nutrition, and access to medical care) can influence how severely the child is affected and how problems show up over time.
Advanced parental age as a general risk for chromosome errors – In general, older parental age slightly increases the chance of chromosome errors during egg or sperm formation. This does not specifically target 10q23 but may raise the background risk for all chromosomal deletions.
DNA repair problems – In very rare cases, problems with DNA repair systems may make chromosomes more likely to break and lose pieces. This can increase the risk of deletions, including in the 10q region.
Exposure to strong DNA-damaging agents – High-dose radiation, certain chemicals, and some viruses can damage chromosomes. While this is not a typical cause for most 10q23 deletions, in theory such exposures might increase the chance of chromosome breakage.
Early embryonic errors after fertilization – Sometimes the deletion occurs shortly after the egg and sperm join. A mistake during the first cell divisions can create a deletion in all, or in many, of the baby’s cells.
Inheritance in families with known 10q rearrangement – In a few families, one generation is diagnosed with a 10q23 deletion, and genetic testing finds a related structural change in earlier generations. In these families, the deletion can repeat in children unless monitored with prenatal or pre-implantation testing.
Unknown factors – In many children, doctors cannot find any special risk other than normal biological chance. The deletion simply occurs as a rare genetic accident, and the family has no previous history of the condition.
Symptoms and signs
Symptoms can vary widely. Some children have mild learning problems, while others have serious health issues.
Developmental delay – Many children sit, stand, walk, and talk later than other children their age. They may need extra help with learning new skills, such as holding a spoon, dressing, or using words.
Intellectual disability or learning difficulty – Some children have trouble with schoolwork, memory, and problem-solving. The level can range from very mild to more significant. Early special education and therapy are very important.
Speech and language delay, sometimes autism-like features – Children may speak late, have limited words, or have trouble understanding language. Some show poor eye contact, repetitive behaviors, or social difficulties that look like autism spectrum disorder.
Facial differences (dysmorphic facies) – Doctors may notice subtle facial features such as a broad forehead, wide-spaced eyes, long face, or other small differences that help them think about a chromosome condition. These features are not usually harmful by themselves.
Macrocephaly (large head size) in some children – Some patients have a head that measures bigger than expected for age. This can be linked to PTEN deletion and overgrowth. Doctors measure head size regularly to monitor brain and skull growth.
Juvenile intestinal polyps and juvenile polyposis – Many affected children develop multiple benign polyps in the colon and sometimes the stomach or small intestine. These polyps can cause abdominal pain, bleeding, or anemia, and they may need removal.
Gastrointestinal bleeding and anemia – Because polyps can bleed slowly over time, children may become pale, tired, or short of breath due to low blood count (anemia). They may pass dark or bloody stools.
Heart defects – Some children have structural heart problems, such as atrial septal defect (ASD) or ventricular septal defect (VSD). These defects are holes between the heart chambers and may cause breathlessness, poor feeding, or murmur in infancy.
Low muscle tone (hypotonia) and motor delay – Babies may feel “floppy” when lifted and may take longer to roll, sit, or walk. Hypotonia can also affect chewing and swallowing. Physiotherapy often helps improve strength and coordination.
Benign tumors such as lipomas and hemangiomas – Some children develop soft fatty lumps under the skin (lipomas) or red birthmark-like growths made of blood vessels (hemangiomas). These are usually benign but may need monitoring.
Feeding difficulties and failure to thrive – Babies can have trouble sucking, swallowing, or keeping food down. Some fail to gain weight or grow as expected, and may need feeding support or tube feeding in severe cases.
Skeletal or limb anomalies – A few children have club feet, long slender fingers (arachnodactyly), or very flexible joints. These bone and joint differences can affect walking and posture and sometimes need orthopaedic care.
Behavioral and emotional problems – Attention problems, anxiety, or challenging behaviors can occur, especially in children with learning difficulties or autism-like features. Behavioral therapy and support at school are often needed.
Increased long-term risk of certain cancers – Because PTEN is a tumor-suppressor gene, its loss can increase the lifetime risk of some cancers (for example, thyroid, breast, or colon cancer) in older teenagers and adults. Regular screening is usually recommended.
Other rare features – Some reports describe features such as congenital breast aplasia, club feet, joint hyper-laxity, feeding problems, and failure to thrive. Not every child has these, but they show how variable the syndrome can be.
Diagnostic tests
Doctors use a combination of clinical examination, lab tests, imaging, and genetic tests to diagnose chromosome 10q23 deletion syndrome and to check which organs are affected.
Physical examination tests
Complete physical examination and growth review – The doctor checks the child’s weight, height, and head size and compares them with growth charts. They also look at body proportions, muscle tone, and general health. This helps identify developmental delay, overgrowth, or failure to thrive that may suggest a chromosomal problem.
Head circumference measurement – The doctor measures the distance around the child’s head at each visit. A very large or unusual head size can point to PTEN-related overgrowth and support the suspicion of a 10q23 deletion.
Detailed facial and body feature assessment – The doctor carefully examines the face, hands, feet, chest, and spine for subtle differences, such as wide forehead, joint laxity, club feet, or breast aplasia. These features guide genetic testing and help match the child’s appearance with published cases.
Heart and lung examination – Using a stethoscope, the doctor listens for heart murmurs or abnormal breath sounds. Murmurs can suggest ASD or VSD, which are known in some children with 10q23 deletions, and may lead to cardiology referral.
Manual (bedside) tests
Developmental milestone screening – Simple bedside tests are used to see how the child moves, speaks, and interacts. The doctor or therapist asks the child to sit, walk, draw, or follow simple commands. Delays in these tasks support the diagnosis of a neurodevelopmental disorder such as 10q23 deletion syndrome.
Cognitive and learning assessment – Psychologists or special educators use age-based tasks (like picture matching or simple puzzles) to check thinking and learning ability. This helps understand how the deletion is affecting school skills and guides support plans.
Manual motor and muscle tone testing – The clinician gently moves the child’s arms and legs, checks how strongly they push or pull, and feels muscle stiffness or floppiness. Hypotonia and poor motor coordination are common in this syndrome.
Joint range-of-motion and hyper-mobility testing – The doctor bends and straightens the child’s joints to see if they are too loose or stiff. Very flexible joints, hand anomalies, or foot deformities can support the clinical diagnosis and may need physiotherapy or orthopaedic care.
Lab and pathological tests
Complete blood count (CBC) and iron studies – A blood test checks red cells, white cells, and platelets. Low red cells or low iron can point to chronic blood loss from intestinal polyps, which is a key feature of 10q23 deletion syndrome with juvenile polyposis.
Stool test for hidden (occult) blood – A small stool sample is tested for tiny amounts of blood that are not visible. A positive result suggests bleeding polyps or other gut problems and usually leads to endoscopy.
Histopathology of intestinal polyps – During colonoscopy or endoscopy, polyps are removed and examined under a microscope. The pathologist confirms that they are “juvenile polyps,” which are typical in this syndrome, and also checks for early signs of cancer.
Organ function blood tests (liver, kidney, thyroid) – Blood tests for liver enzymes, kidney function, and thyroid hormones help detect organ problems that may appear in some patients or be related to long-term PTEN-related risks.
Chromosome analysis (karyotype) – A standard chromosome test looks at all chromosomes under the microscope. In some children, it can show a visible deletion of 10q23 or a balanced translocation involving chromosome 10 in a parent.
Chromosomal microarray / array-CGH – This sensitive genetic test uses many DNA probes to look for tiny gains or losses of chromosome material. It is very useful for detecting 10q22.3–10q23.3 microdeletions that are too small to see on a regular karyotype. It is now a key test for diagnosing this syndrome.
Electrodiagnostic tests
Electroencephalogram (EEG) – An EEG records the brain’s electrical activity. It may be done if a child has seizures or unusual spells. Some children with chromosomal deletions and developmental delay have seizures, and EEG helps guide treatment.
Nerve conduction study and electromyography (NCS/EMG) – If there is marked hypotonia, weakness, or unusual muscle function, doctors may perform NCS/EMG to look at nerve and muscle activity. This helps rule out other neuromuscular conditions and understand how much the nervous system is affected.
Electrocardiogram (ECG) – An ECG measures the electrical activity of the heart. It may be used along with echocardiography to look for rhythm problems or strain caused by structural heart defects in affected children.
Imaging tests
Brain MRI – Magnetic resonance imaging of the brain can show structural differences, such as white-matter changes or cerebellar anomalies, that have been reported in some patients with 10q22.3–10q23.3 deletions. It helps explain developmental and neurological symptoms.
Echocardiogram (heart ultrasound) – This imaging test uses sound waves to create moving pictures of the heart. It is essential for detecting ASD, VSD, or other heart defects that may occur with this syndrome, and for deciding whether surgery or other treatment is needed.
Abdominal ultrasound and other gut imaging – Ultrasound of the abdomen looks at the liver, spleen, kidneys, and sometimes bowel loops. Combined with endoscopy and colonoscopy, it helps assess the extent of intestinal polyps and other abdominal problems in children with 10q23 deletions.
Non-Pharmacological Treatments (Therapies and Other Supports)
These approaches do not use medicines. They focus on growth, learning, and lowering cancer and complication risks.
Genetic counseling
Genetic counseling helps families understand what a 10q23 deletion means, why it happened, and the chance of it happening again in future pregnancies. The counselor explains the overlap with PTEN/BMPR1A-related syndromes, the cancer risks, and recommended screening plans. This support also helps parents cope with emotions and make informed choices about testing for other family members.Regular cancer-surveillance clinic visits
People with 10q23 deletions often follow PTEN hamartoma tumor syndrome and juvenile polyposis surveillance guidelines. This can include regular colonoscopy, upper endoscopy, thyroid ultrasound, breast imaging, and sometimes kidney scans. The goal is to find polyps or cancers early, when treatment is easier and more successful.Developmental and early-intervention therapy
Developmental delay is common, so early-intervention programs (usually starting in infancy or toddler years) are very important. Therapists assess motor skills, learning, and social development. They build a plan to improve sitting, walking, understanding, and communication. Early support can strongly improve long-term school performance and independence.Physiotherapy and occupational therapy
Physiotherapists help with balance, muscle strength, joint stability, and coordination, especially in children with low muscle tone or joint hyperlaxity. Occupational therapists teach daily living skills, like dressing and feeding, and can recommend adaptive tools. Together they reduce falls, support independence, and improve comfort when there are skeletal or joint problems.Speech and language therapy
Some children have speech delay or social communication difficulties, sometimes linked to autism. Speech therapists work on understanding language, forming words, and using simple communication strategies or devices when needed. Therapy can also help feeding and swallowing in babies with poor weight gain or oral-motor problems.Educational support and individualized school plans
Because learning difficulties and attention problems are possible, many children benefit from special education plans. These may provide classroom aides, extra time for tasks, visual supports, and quiet spaces. Early coordination between parents, teachers, and health professionals helps match teaching style to the child’s needs.Psychological and behavior therapy
Some patients have anxiety, hyperactivity, or autistic features. Psychologists and behavior therapists use simple behavior plans, parent training, and coping strategies to manage challenging behavior. They also support teens and adults who struggle with the stress of living with a chronic, cancer-risk condition.Nutritional counseling
Juvenile polyposis, chronic diarrhea, and bowel surgery can cause weight loss, anemia, or low vitamins. Dietitians design meal plans that are high in calories and protein, with enough iron, calcium, vitamin D, and B-vitamins. They may suggest texture changes or special formulas for children with feeding problems or failure to thrive.Endoscopic monitoring with polyp removal
Regular colonoscopy and upper endoscopy allow doctors to look at the bowel lining and remove polyps before they bleed or become cancerous. For some patients this can delay or even avoid major surgery. It is an invasive procedure but does not involve long-term medicines and is central to care in juvenile polyposis.Family support groups and rare-disease networks
Because 10q23 deletion syndrome is rare, many families feel isolated. Joining rare-disease or PTEN/JPS groups (online or in person) lets families share experiences, practical tips, and emotional support. This can make long follow-up schedules and repeated procedures easier to manage over many years.
Drug Treatments
There is no medicine that repairs the missing piece of chromosome 10. Drug treatment focuses on:
controlling symptoms (bleeding, diarrhea, pain)
correcting anemia or nutrient shortages
treating cancers or severe polyposis when they appear
Below are examples of important drug types; exact choice and dose must always be decided by a specialist for each person.
Sirolimus (Rapamune® – mTOR inhibitor)
Sirolimus blocks the mTOR pathway, which is overactive when PTEN/BMPR1A signaling is disturbed. In difficult juvenile polyposis of infancy with a 10q23 deletion, small case reports show sirolimus may shrink polyps and improve protein-losing enteropathy. It is usually taken once daily, with doses adjusted to reach a target blood level. Important side effects include infections, high cholesterol, mouth ulcers, and delayed wound healing, so it is reserved for severe cases and used under strict monitoring.Everolimus (Afinitor® – mTOR inhibitor)
Everolimus is another mTOR-pathway blocker used in several tumor and overgrowth syndromes. It may be considered in PTEN-related conditions when tumor control is needed, and research is ongoing in PTEN hamartoma tumor syndrome. Tablets are taken once daily, with dosing guided by blood levels (commonly aiming for 5–10 ng/mL). Side effects include mouth sores, infections, raised blood lipids, and changes in blood counts, so careful lab monitoring is essential.Proton pump inhibitors (PPIs, for example omeprazole/Prilosec®)
PPIs reduce stomach acid and help protect the upper gut from ulcers or bleeding, which may occur when there are many gastric polyps or after surgery. Typical adult doses are around 20 mg once daily, but dosing and duration depend on the exact problem and age. Long-term use can cause low magnesium, vitamin B12 deficiency, and fundic gland polyps, so doctors try to use the lowest effective dose and review the need regularly.Loperamide (Imodium® – anti-diarrheal)
Chronic diarrhea is common in aggressive juvenile polyposis or after bowel surgery. Loperamide slows bowel movement, giving more time for water absorption and reducing stool frequency. Short-term, low-dose use can improve comfort and prevent dehydration. Taking too much is dangerous and can disturb heart rhythm, so dosing must follow medical advice and label limits carefully.Oral iron supplements (for example ferrous sulfate)
Many patients develop iron-deficiency anemia because polyps bleed slowly over time. Oral iron tablets gradually rebuild iron stores and improve tiredness, breathlessness, and pale skin. Dose and schedule depend on age, weight, and tolerance; common side effects include nausea, constipation, or dark stools. Some people need intravenous iron if oral forms are not tolerated or if anemia is severe.Folic acid and vitamin B12 supplementation
When large areas of bowel are removed or inflamed, folate and B12 absorption may fall, worsening anemia and nerve function. Supplements help maintain healthy red blood cells and reduce fatigue and neuropathy. Tablets are usually taken once daily; in strong deficiency, injections may be used. Doses must follow lab tests and medical advice to avoid masking other problems.Analgesics such as paracetamol (acetaminophen)
Children and adults may have abdominal pain after endoscopy, surgery, or when polyps are inflamed. Simple painkillers like paracetamol are often first-line because they do not increase bleeding risk the way many non-steroidal anti-inflammatory drugs (NSAIDs) do. Doses are set by weight, and the main risk is liver injury if too much is taken, so strict adherence to recommended limits is vital.Antiemetics (for example ondansetron)
Nausea and vomiting can follow anesthesia, surgery, or intensive medical treatments. Antiemetic drugs block vomiting signals in the brain, making it easier to eat and drink. Ondansetron is often given as a short course, by mouth or injection. Side effects can include headache and, rarely, changes in heart rhythm, so doctors consider other medicines and heart history before prescribing.Antibiotics when there is infection
Endoscopy, major bowel surgery, or severe protein-losing enteropathy can increase infection risk. Short courses of antibiotics may be used to treat or prevent infections around procedures. The type (for example a cephalosporin) and dose depend on the site of infection and local guidelines. Overuse can lead to resistance and gut microbiome changes, so antibiotics are used only when truly needed.Standard oncologic drugs when cancers develop
If colorectal, gastric, thyroid, breast, or other cancers arise, treatment usually follows standard cancer protocols, which may include chemotherapy, targeted drugs, or hormone therapy. Choices depend on tumor type and stage, not just the chromosome deletion. Specialists also consider the person’s underlying PTEN/BMPR1A status when balancing benefits and side effects.
Important: All medicine examples above are educational. Only a qualified doctor who knows the patient’s full history should choose drugs and doses. Never start, stop, or change medicines on your own.
Dietary Molecular Supplements
Supplements are supportive only. They cannot fix the chromosome deletion but can help reduce complications like anemia or poor growth when used under medical guidance.
High-energy oral nutrition formulas
These liquid or powdered drinks provide concentrated calories, protein, vitamins, and minerals for children or adults who struggle to gain weight, have feeding difficulties, or lose protein through the gut. They are often used alongside normal food, especially after bowel surgery or during disease flares. Dietitians choose formulas based on age, allergy, and bowel function.Iron–vitamin complexes
Combined iron with vitamin C, folate, and B12 can improve absorption and red blood cell production in long-term blood loss from polyps. They are usually taken once or twice daily, and blood tests guide the length of treatment. Over-supplementation can cause stomach upset and, rarely, iron overload, so monitoring is important.Calcium and vitamin D
Children with chronic illness, reduced activity, or long-term PPI use may have weaker bones. Calcium and vitamin D work together to build and maintain bone strength. Supplements help prevent osteoporosis and fractures, especially in teens and adults. Doctors adjust dose based on diet and blood levels to avoid kidney stones or very high calcium.Omega-3 fatty acids
Omega-3 fats from fish oil or algae may support heart health and help mild inflammation. In settings of chronic intestinal disease and surgery, they can be part of a balanced anti-inflammatory diet. They are not specific therapy for 10q23 deletion but may be suggested when diet intake is low. High doses can increase bleeding risk slightly, so dosing should be checked with the care team.Probiotics
Probiotics are “good bacteria” supplements that may help restore gut microbiome balance after repeated antibiotics or bowel surgery. They can reduce some types of diarrhea and support gut barrier function, although evidence is mixed and strain-specific. Products should be chosen carefully, especially in very young or immunocompromised patients, because rare infections have been reported.
Immune-Support and Regenerative / Stem-Cell-Related Treatments
For chromosome 10q23 deletion syndrome, there are no approved stem-cell drugs that directly treat the deletion itself. However, in special situations doctors may consider the following approaches, usually in research or very severe disease.
mTOR-pathway modulators as “targeted” therapy
Drugs like sirolimus and everolimus are sometimes described as “targeted” or “pathway-directed” therapies because they counteract overactive PI3K/AKT/mTOR signaling seen when PTEN is lost. In aggressive juvenile polyposis, they may reduce polyp burden and protein loss, acting somewhat like a “molecular brake” on abnormal growth. Their use is experimental and requires close monitoring.Hematopoietic stem cell transplantation (HSCT) – very rare indication
If a person with 10q23 deletion later develops a blood cancer or bone-marrow failure that standard therapy cannot control, HSCT may be considered. In HSCT, high-dose chemotherapy first removes diseased marrow, then donor stem cells are infused to rebuild the blood system. This is a major, high-risk treatment and is not routine for 10q23 deletion itself.Immunoglobulin replacement or other immune-supportive drugs
Some patients with complex cancer-risk syndromes or heavy immunosuppressive therapy develop recurrent infections or low antibody levels. In such selected cases, intravenous or subcutaneous immunoglobulin can help boost defenses. These treatments use pooled antibodies from donors; they do not correct the chromosome problem, but they can reduce serious infections when immune systems are weakened.
At present, gene therapy or direct chromosome repair for 10q23 deletion is research only and not available as standard care.
Surgeries and Procedures
Surgery is often needed to manage polyps and prevent or treat cancers.
Endoscopic polypectomy
During colonoscopy or upper endoscopy, doctors can remove polyps using a snare or other tools. This reduces bleeding, anemia, and cancer risk without open surgery. Many patients need repeated polypectomies throughout life because new polyps continue to grow.Segmental bowel resection
If polyps are very numerous in one part of the colon or small intestine, or if there is severe bleeding, that section of bowel may be surgically removed. The healthy ends are joined again. This can greatly reduce symptoms but may shorten bowel length and affect nutrient absorption.Total colectomy with or without ileal pouch
In some severe juvenile polyposis cases, especially when there is high cancer risk or uncontrolled bleeding, the entire colon is removed. Sometimes surgeons create an ileal pouch connected to the anus; in other cases a permanent stoma is needed. The operation is done to save life and prevent colorectal cancer, but it changes bowel habits permanently.Gastric surgery (partial gastrectomy)
If the stomach contains many large polyps that cannot be removed endoscopically, part of the stomach may be removed to control bleeding and cancer risk. After surgery, smaller meals and careful nutritional planning are required to prevent weight loss and vitamin deficiencies.Standard cancer surgeries (for thyroid, breast, kidney, etc.)
When solid tumors arise in organs such as thyroid or breast, surgery usually follows standard oncologic practice, sometimes combined with radiotherapy or systemic drugs. The presence of a 10q23 deletion influences the need for careful long-term follow-up and screening for new cancers in other organs.
Prevention and Risk-Reduction
You cannot prevent the original chromosome deletion, but you can reduce complications and cancer risk.
Follow all recommended surveillance tests on schedule (endoscopies, thyroid ultrasound, breast imaging, etc.) so that polyps and cancers are found early.
Avoid smoking and vaping, because they increase general cancer and heart disease risk.
Limit alcohol intake, as alcohol can irritate the gut and add to overall cancer risk.
Maintain a healthy body weight and regular physical activity, which supports heart health, reduces some cancer risks, and helps mood and energy.
Protect your skin from too much sun, especially if you have many skin growths or a history of skin tumors.
Keep vaccinations up to date, including flu and other recommended vaccines, to reduce infection risk, especially when on immunosuppressive drugs.
Have regular dental and general check-ups, because mouth, jaw, and general health can be affected by nutrition and long-term medicines.
Share your genetic diagnosis with treating doctors, so they can plan safer anesthesia, surgery, and medication choices.
When to See Doctors
People with chromosome 10q23 deletion syndrome should stay in regular contact with their care team and seek urgent help if needed.
At diagnosis or if the condition is suspected, see a clinical geneticist to confirm the deletion and plan surveillance.
Regularly, follow-up with gastroenterology, surgery, and oncology for polyp checks, cancer screening, and management plans.
Immediately or urgently if there is:
bright red blood in stool or black, tarry stools
vomiting blood
sudden severe abdominal pain, swelling, or vomiting
quick weight loss, fever, or extreme tiredness
new lumps or swellings in the neck, breast, abdomen, or elsewhere
persistent headaches, seizures, or sudden behavior changes
These may signal dangerous complications like bowel obstruction, severe bleeding, or cancer.
What to Eat and What to Avoid
Food choices should be personalized by a dietitian, especially after bowel surgery, but some general points are:
Helpful to eat
Soft, easy-to-digest foods (well-cooked vegetables, ripe fruits without skins, soft grains) after surgery or during flares to reduce gut irritation.
High-protein foods such as eggs, fish, chicken, yoghurt, and legumes to repair tissues and maintain muscle.
Iron-rich foods (lean red meat in moderation, beans, lentils, leafy greens) to support blood counts if anemia is present.
Calcium and vitamin-D sources (dairy, fortified plant milks, oily fish) to protect bones, especially with long-term PPI use or limited mobility.
Plenty of fluids (water, oral rehydration solutions) to prevent dehydration when diarrhea is present.
Often better to limit or avoid (especially during flares)
Very high-fat, deep-fried, or greasy foods, which can worsen diarrhea and cramping in some people.
Very spicy foods if they trigger stomach pain or reflux.
Processed meats and heavily smoked/charred foods, which may add to general bowel-cancer risk.
Excess caffeine (strong tea/coffee or energy drinks) if it worsens heartburn or loose stools.
Alcohol, especially in large amounts, because it can irritate the gut and interact with medications.
Frequently Asked Questions (FAQs)
Is chromosome 10q23 deletion syndrome the same as PTEN hamartoma tumor syndrome?
No. 10q23 deletion syndrome is caused by a missing piece of chromosome that often includes both BMPR1A and PTEN. PTEN hamartoma tumor syndrome usually involves a pathogenic variant in PTEN alone. However, clinical features overlap, and many surveillance recommendations are shared.Is it always inherited from a parent?
No. Many cases are de novo, meaning the deletion starts in the child and is not present in either parent. In other families, a parent can carry the same deletion and pass it on. Genetic testing of parents helps clarify inheritance and recurrence risk.Can lifestyle changes cure the syndrome?
Lifestyle changes cannot replace the missing chromosome segment, so they cannot cure the condition. However, healthy food, exercise, avoiding smoking, and following cancer screening plans can strongly reduce illness and help people feel better and live longer.What is the biggest health risk?
The main long-term risks are severe juvenile polyposis with bleeding and protein loss, and an increased chance of cancers such as colorectal, gastric, thyroid, breast, and others. The exact level of risk depends on which genes are deleted and on individual history.Can children with 10q23 deletion syndrome go to regular school?
Many children can attend mainstream school with the right support for learning or behavior. Others may benefit more from special education settings. Early developmental therapy and cooperation between school and medical teams are key.Does everyone with 10q23 deletion have autism?
No. Some patients show autistic traits or ADHD-like behavior, while others do not. The deletion affects brain development differently in each person. Screening for autism and other neurodevelopmental disorders helps provide early, tailored support.Are pregnancies possible for adults with this syndrome?
Yes, many adults can have children. However, there may be a risk of passing the deletion to offspring, and pregnancy may require extra monitoring because of cancer risks or previous surgeries. Genetic and obstetric counseling before pregnancy is strongly recommended.Will my child need surgery?
Some children do well with regular polyp removal by endoscopy alone, while others need major bowel surgery if polyps are too many or if cancer or severe protein loss develops. Decisions depend on symptoms, polyp number, and response to less invasive treatments such as endoscopic polypectomy or, in rare cases, mTOR-based therapy.What is the long-term outlook?
The outlook is very variable. With modern surveillance and surgery, many people live into adulthood, study, work, and have families. Early diagnosis, good cancer screening, and supportive therapies for development and nutrition all improve quality and length of life.Is there any research on new treatments?
Yes. Researchers are studying better cancer-surveillance tools, new uses of drugs that act on PTEN/PI3K/AKT/mTOR pathways, and long-term outcomes of children with PTEN and BMPR1A deletions. Gene-targeted or cell-based treatments are being explored in the laboratory but are not yet standard care.
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.
