Chromosome 1p32-p31 deletion syndrome is a rare genetic condition. It happens when a small piece is missing from the short arm (the “p arm”) of chromosome 1, in the region called 1p32 to 1p31. This missing piece contains several important genes, especially a gene called NFIA. Because these genes are gone or partly gone, the brain and other body organs may not develop in the usual way. Many children with this syndrome have developmental delay, learning problems, brain structure changes, and sometimes problems with the urinary system or other organs. The exact features are different from person to person, even when the missing piece looks similar.
Chromosome 1p32-p31 deletion syndrome (also called 1p31p32 microdeletion syndrome, NFIA-related disorder, or brain malformations with or without urinary tract defects) is a rare genetic condition caused by the loss (deletion) of a small piece of the short arm of chromosome 1 around bands 1p32–1p31. This deleted region usually includes the NFIA gene, which is very important for normal development of the brain and urinary tract. When one copy of NFIA is missing (haploinsufficiency), the brain may not form normally, especially the corpus callosum (the bridge between the two brain hemispheres), and the fluid spaces in the brain (ventricles) may become enlarged, causing ventriculomegaly or hydrocephalus.[1]
Children with this syndrome often have a combination of problems such as developmental delay, intellectual disability, low muscle tone (hypotonia), seizures, macrocephaly (large head size), feeding difficulties, and characteristic facial features. Many also have urinary tract and kidney problems like vesicoureteral reflux or hydronephrosis, and some have genital anomalies or skeletal differences. The exact symptoms can vary widely even inside the same family, because the size of the deletion and the other genes involved are not always exactly the same in every person.[2]
Other names
This syndrome does not always have the same name in every article. Doctors and researchers may use several names that point to the same or very similar deletion. These names are useful when you search for information in medical papers or genetic reports.
Chromosome 1p32-p31 deletion syndrome – the main and most direct name.
1p31p32 microdeletion syndrome – used when the missing part is small and centred in bands 1p31 and 1p32.
1p32-p31 microdeletion – another simple way to describe the same deleted segment.
NFIA haploinsufficiency syndrome – used when doctors focus on loss of one copy of the NFIA gene, which is thought to be a key cause of brain and skull changes.
Interstitial deletion of 1p31-p32 – “interstitial” means the missing piece is from the middle of the chromosome arm, not from the end.
Microdeletion 1p32p31 with NFIA deletion – used in some detailed case reports and genetic studies.
Types of chromosome 1p32-p31 deletion
Doctors do not have strict “types” like type 1, type 2, etc. But they often group cases in a few ways, based on where and how big the missing piece is, and which genes are lost.
Small NFIA-focused microdeletions – the missing part is relatively small and clearly includes NFIA and only a few nearby genes. These people often have problems with the corpus callosum (the band of nerve fibres linking the two brain halves), head size changes, and learning problems.
Larger 1p31.3–1p32.2 deletions – a bigger segment is missing. More genes are lost, so more body systems can be affected, for example skull bones, eyes, heart, kidneys, or blood vessels.
Overlapping 1p31/1p32 interstitial deletions – some people have deletions that start or end a little outside the classic NFIA area. Their signs may overlap with other 1p deletion syndromes, so doctors must read the genetic chart very carefully.
Deletions with extra nearby gene loss (for example CAMTA1 + NFIA) – in some families, the missing piece covers both CAMTA1 and NFIA and can blend features of CANPMR syndrome and 1p32-p31 deletion syndrome.
Inherited versus de novo deletions – in many patients, the deletion happens “out of the blue” (de novo) in the egg or sperm. In some families, the deletion is passed from a parent who may have mild or unrecognised symptoms.
Causes and risk factors
For this condition, the direct cause is always the same: a missing segment of chromosome 1 in the 1p32-p31 region. However, many different situations can lead to this missing segment. In most cases, the event is random and not due to anything the parents did or did not do.
De novo chromosome break during egg or sperm formation
The most common cause is a fresh error when an egg or sperm is made. During cell division, the chromosome can break in the 1p32-p31 area and join again in a wrong way, leaving a small segment missing. This new change is not seen in the parents’ blood tests.De novo deletion in the early embryo
Sometimes the egg and sperm are normal, but a deletion happens just after fertilisation, while the first cells of the embryo are dividing. All later cells then carry the same missing segment, leading to the syndrome.Parental balanced translocation involving 1p
In a few families, a parent has a “balanced” swap of pieces between chromosomes that does not cause problems for them. When they pass chromosomes to a child, the child can get an “unbalanced” form where the 1p32-p31 piece is missing, causing the syndrome.Parental chromosomal inversion including 1p31–p32
A parent may carry an inversion (a flipped piece of chromosome) that includes the 1p31–p32 segment. During meiosis, this structure can lead to eggs or sperm with deleted segments and result in 1p32-p31 deletion in the baby.NFIA gene haploinsufficiency
The NFIA gene is often included in the missing segment. Having only one working copy (haploinsufficiency) is enough to disturb brain and skull development, and is considered a key molecular cause of the characteristic features of this syndrome.Loss of multiple nearby neurodevelopmental genes
Larger deletions may remove several genes that work together in brain development, such as DAB1, DOCK7, and other candidates. This combined loss can explain more complex or severe symptoms.Vertical transmission from an affected or mildly affected parent
Some case reports describe a parent and child who both have the 1p32-p31 deletion and share similar signs, such as learning problems or brain anomalies. This shows that the deletion can be inherited and does not always cause very severe disability.Germline mosaicism in a parent
A parent can have the deletion only in some egg or sperm cells but not in blood cells, so their test appears normal. They can still have more than one child with the syndrome because some of their germ cells carry the missing segment.General chromosome breakage during meiosis (cell division for eggs and sperm)
During normal meiosis, chromosomes exchange segments. Rarely, an unequal exchange or repair error can remove a small piece at 1p32-p31. This is a general mechanism behind many microdeletion syndromes, including this one.Non-allelic homologous recombination (NAHR)
The 1p31-p32 region contains repeated DNA sequences. These repeats can line up wrongly during meiosis and recombine in the wrong place, producing a recurrent deletion in 1p32-p31.Parental age–related risk (especially maternal age)
Many chromosomal changes are a little more common with higher maternal age. While this has not been proven specifically for this rare syndrome, it is considered a general risk factor for new chromosomal errors.Chromosomal instability background in some families
In some families, repeated chromosomal anomalies are seen across different relatives. This suggests an underlying tendency for chromosome breakage, which could make deletions like 1p32-p31 more likely.Association with contiguous gene syndromes (for example, including CANPMR region)
In rare families, a single deletion covers regions linked to more than one named syndrome, such as both CANPMR (CAMTA1) and NFIA regions. This “contiguous gene syndrome” situation can give rise to the 1p32-p31 deletion picture together with extra features.Possible effect of exposure to ionising radiation before conception
High-dose radiation can damage DNA and increase the general risk of chromosome breaks. There is no direct large study for this exact syndrome, but this mechanism is recognised for chromosomal damage in general.Possible effect of some chemotherapy or mutagenic chemicals before conception
Certain cancer drugs or strong industrial chemicals can harm dividing cells and their chromosomes. In theory, this may slightly raise the chance of new chromosomal deletions like 1p32-p31, although specific data for this syndrome are not available.Chromosome 1p interstitial deletions as part of wider 1p deletion disorders
Some people have interstitial deletions elsewhere on 1p as well as in 1p31–p32. In these individuals, the 1p32-p31 deletion is one part of a broader 1p deletion, and contributes to their overall clinical picture.Overlap with other 1p microdeletion syndromes (for example 1p31.1)
Case reports of 1p31.1 deletions show overlapping signs such as developmental delay and hypotonia. These overlap syndromes may share pathogenic mechanisms with classic 1p32-p31 deletion, blurring the edges between them.Rare mosaic deletions limited to some tissues
In a small number of chromosomal disorders, the deletion is present in some tissues but not others. Mosaicism can lead to milder or unusual symptoms and can make genetic testing harder if only blood is studied.Unknown or idiopathic mechanisms
For many families, doctors cannot find a clear reason why the deletion occurred. No parental rearrangement or known risk factor is found, so the event is called idiopathic, meaning “of unknown cause.”Background genetic and epigenetic modifiers
Other genes across the genome and epigenetic marks (chemical tags on DNA) may change how the deletion shows itself. These background factors do not cause the deletion but can make symptoms milder or more severe.
Symptoms and clinical features
Not every person has all of these features. The combination and severity are very different between individuals, even with similar deletions.
Global developmental delay
Many babies and children learn skills later than other children the same age. They may sit, crawl, walk, and speak later. The delay can range from mild to very marked, and often affects both movement and learning.Intellectual disability or learning difficulties
School-age children often have trouble with understanding new ideas, problem-solving, and communication. Some have mild difficulties and can attend mainstream school with support, while others have moderate or severe intellectual disability.Abnormalities of the corpus callosum
A common MRI finding is a thin, partly formed, or absent corpus callosum (the bridge between the two halves of the brain). This can affect how the two sides of the brain share information and is thought to relate to the NFIA gene loss.Ventriculomegaly or hydrocephalus
Some fetuses and children have enlarged spaces in the brain called ventricles. In some, the fluid build-up is mild; in others it becomes hydrocephalus, which may need surgical treatment. Prenatal ultrasound often first picks up this sign.Macrocephaly or unusual head shape
Many reports mention a large head size (macrocephaly) or a head that looks different from typical, sometimes together with changes in skull bones. Rarely, craniosynostosis (early fusion of skull sutures) is present.Seizures
Some children develop seizures, which can begin in the newborn period or later. The type and frequency vary, and seizures usually need long-term follow-up with a neurologist and treatment with anti-seizure medicines.Hypotonia (low muscle tone) and motor delay
Many babies feel “floppy” when held. They may have weak muscle tone and need extra support to sit or stand. Physical therapy is often required to help them build strength and improve posture and coordination.Distinctive facial features
Mild but recognisable facial features are described, such as frontal bossing (high forehead), wide-set eyes, unusual ear shape, or other subtle differences. These features are not harmful but can give doctors clues to a genetic condition.Abnormalities of the urinary system
Some children have kidney or urinary tract anomalies, such as abnormal kidney shape or position, reflux of urine, or other structural problems. These may need regular checks with ultrasound and specialist advice.Spinal cord and hindbrain anomalies
Tethered cord (spinal cord stuck lower than usual) and Chiari type I malformation (part of the cerebellum slipping down into the spinal canal) are reported. These issues can cause problems with walking, bladder or bowel control, or headaches.Moyamoya phenomenon and blood vessel changes
In a few cases, narrow or blocked brain arteries and Moyamoya-like changes have been described. These can increase the risk of strokes or transient weakness episodes, and require specialist monitoring.Behavioral problems, ADHD, or autism-spectrum-like traits
Some children show hyperactivity, impulsive behaviour, attention problems, or features similar to autism spectrum disorder. They may also have anxiety or compulsive behaviours and often need behavioural and educational support.Cutis marmorata and other skin signs
Cutis marmorata (a lacy, mottled pattern on the skin) has been reported in some patients. This skin sign alone is not dangerous, but when seen with other features it can support the diagnosis.Eye problems, including ocular hypertension
Some patients develop high pressure inside the eye (ocular hypertension) or other eye changes. If untreated, raised eye pressure can threaten vision, so regular eye checks are important.Feeding difficulties and growth concerns
Babies may have trouble feeding, poor weight gain, or reflux. Later on, growth may be slow or irregular. Dietitians and feeding specialists can help manage these issues.
Diagnostic tests
Physical examination tests
General physical and growth examination
The doctor measures weight, height, and head size and compares them with growth charts. They look for signs like large head, unusual skull shape, or body asymmetry. Growth patterns can suggest a genetic condition and guide further testing.Detailed neurological examination
The neurologist checks muscle tone, strength, reflexes, eye movements, and coordination. Low tone, abnormal reflexes, or unusual movements can support the diagnosis and help decide which imaging and electrodiagnostic tests are needed.Dysmorphology and craniofacial assessment
A clinical geneticist looks closely at facial traits, skull shape, hands, feet, and body proportions. Patterns of subtle differences, such as frontal bossing or ear shape, can point to chromosome 1p32-p31 deletion rather than other syndromes.System examination for organ anomalies
The doctor checks the heart, lungs, abdomen, spine, joints, and skin. They look for murmurs, spine curvature, hernias, cutis marmorata, or limb differences that might be part of the syndrome picture.
Manual and functional tests
Standardised developmental assessment (for example Bayley or similar scales)
Psychologists or therapists use structured play-based tests to see how the child is doing in motor, language, social, and problem-solving skills. The scores help describe how severe the developmental delay is and plan early support.Motor function and physiotherapy assessment
Physical therapists test sitting, standing, walking, balance, and fine hand use. They may time tasks or use checklists. This shows which muscle groups are weak and which kinds of therapy, braces, or equipment might help.Speech and language evaluation
Speech-language therapists observe how the child understands words, uses sounds, and communicates with gestures or signs. Many children with chromosome 1p32-p31 deletion need long-term language therapy and sometimes augmentative communication tools.Behavioural and neuropsychological testing
Specialists may use questionnaires and one-to-one tests to look for ADHD traits, autism-like behaviours, anxiety, or learning style. This helps pick suitable teaching methods and behavioural supports.
Laboratory and pathological tests
Chromosomal microarray (array CGH or SNP array)
Chromosomal microarray is the key test for this syndrome. It can detect small gains and losses of DNA across all chromosomes and shows the exact size and position of the 1p32-p31 deletion. This test often confirms the diagnosis after brain or growth concerns are noticed.Conventional karyotyping
A karyotype looks at chromosomes under the microscope. Larger deletions or unbalanced translocations involving 1p32-p31 may be visible. It is less sensitive than microarray but helpful to see structural changes like translocations or inversions.Fluorescence in situ hybridisation (FISH) for 1p32-p31 or NFIA
FISH uses coloured DNA probes that bind to specific chromosome regions. Probes for the NFIA area or 1p32-p31 can confirm that the segment is missing and can be used to test parents to see if they carry the same deletion.MLPA or other gene dosage techniques
Multiplex ligation-dependent probe amplification (MLPA) can measure copy number of selected genes, such as NFIA and others in 1p31–p32. It is useful when a specific gene region needs to be checked, or to clarify uncertain microarray results.Targeted NFIA sequencing
In some patients with a similar clinical picture but no deletion on microarray, sequencing of NFIA may find a small change (point mutation) that also gives NFIA haploinsufficiency. This does not create a 1p32-p31 deletion, but clinically can overlap, so doctors may consider NFIA sequencing in complex cases.Broader exome or genome sequencing
When microarray and NFIA tests are negative, exome or genome sequencing may be used to search for other genetic causes of a similar phenotype. In families with known 1p32-p31 deletion, this can also check for extra genetic changes that might explain atypical features.Basic blood and metabolic screening tests
Doctors often order standard blood counts, electrolytes, thyroid tests, and metabolic screens. These do not diagnose the deletion itself, but help rule out other treatable causes of developmental delay or seizures that might be present alongside the deletion.
Electrodiagnostic tests
Electroencephalogram (EEG)
An EEG records the brain’s electrical activity. It is used if the child has seizures or unusual episodes. Specific patterns may guide the choice of anti-seizure medicine and show whether seizures are well controlled over time.Nerve conduction studies and electromyography (EMG)
If there are unusual muscle weakness patterns or suspected peripheral nerve problems, doctors may perform nerve conduction tests and EMG. These measure how fast and how well nerves send signals to muscles. They are not routine in all patients but can be useful in selected cases.Evoked potentials (visual or auditory)
Evoked potential tests measure how the brain responds to sounds or visual flashes. They can detect pathway delays that may not be obvious during routine examination, and help explain vision or hearing complaints in children who cannot describe their symptoms well.
Imaging tests
Brain MRI
Magnetic resonance imaging (MRI) of the brain is one of the most important tests. It can show ventriculomegaly or hydrocephalus, underdevelopment or absence of the corpus callosum, Chiari malformation, and other structural changes in the brain that are typical for chromosome 1p32-p31 deletion syndrome.Targeted organ imaging (renal ultrasound, echocardiogram, spine and vessel imaging)
Because this deletion can affect kidneys, heart, spine, and blood vessels, doctors often order organ-specific imaging. Renal ultrasound checks the kidneys and urinary tract, echocardiogram checks heart structure and function, spine MRI looks for tethered cord, and vascular imaging checks for Moyamoya-like artery changes.
Non-pharmacological treatments
Because there is no cure for the deletion itself, non-drug therapies are the foundation of care. These approaches usually start in infancy and continue through childhood and adulthood.
1. Early-intervention developmental program
Early-intervention services provide a structured program for babies and toddlers with developmental delay. A multidisciplinary team (developmental pediatrician, physiotherapist, occupational therapist, speech therapist, psychologist, and special-education teacher) works with the child and family on motor, language, social, and cognitive skills. Starting therapy early takes advantage of brain plasticity, which means the young brain can reorganize and build new connections. For children with 1p32-p31 deletion syndrome, early-intervention helps reduce long-term disability, supports family coping, and connects the family with needed services.[4]
2. Physical (physio) therapy
Physical therapy focuses on gross motor skills such as head control, rolling, sitting, standing, and walking. In this syndrome, low muscle tone, poor balance, and sometimes hydrocephalus-related motor issues can delay these milestones. The therapist uses exercises, play-based activities, and sometimes equipment such as standing frames or walkers to improve strength, posture, and coordination. The main purpose is to help the child move as independently and safely as possible and to avoid complications like joint stiffness, contractures, or scoliosis.[5]
3. Occupational therapy
Occupational therapy works on fine motor skills and daily living tasks such as grasping objects, feeding with utensils, dressing, and using the toilet. Children with corpus callosum abnormalities and hypotonia often struggle with coordination and planning movements. Structured activities, sensory-integration techniques, and adaptive equipment (special cups, utensils, seating) help the child participate more fully in home, school, and community life. The purpose is to increase independence and quality of life by breaking complex tasks into small, achievable steps.[6]
4. Speech and language therapy
Many children with 1p32-p31 deletion syndrome have delays in speech, language, and communication. A speech-language therapist assesses understanding, spoken language, feeding safety, and sometimes social communication. Therapy may include exercises for mouth and tongue control, vocabulary building, and using pictures, gestures, or communication devices if speech is very limited. Early, family-centered speech therapy improves long-term communication skills and can reduce frustration and behavior problems that come from not being able to express needs clearly.[7]
5. Feeding and swallowing therapy
Hypotonia, poor coordination, or craniofacial differences can cause feeding difficulties and risk of aspiration (food or liquid going into the lungs). A feeding therapist (often a speech-language pathologist or occupational therapist) works with safe positions for feeding, appropriate textures, pacing, and breathing-swallow coordination. Sometimes a video swallow study is used to check how safely the child swallows. The goal is to achieve safe nutrition and hydration, support growth, and lower the risk of recurrent chest infections.[8]
6. Neurodevelopmental follow-up clinic
Children with complex genetic brain malformations benefit from regular follow-up in a neurodevelopmental or complex-care clinic. A team reviews growth, seizure control, sleep, behavior, learning progress, and family needs at each visit. Adjustments to therapy plans, referrals to new specialists, and anticipatory guidance (what to watch for next) are provided. This coordinated care reduces fragmented services, prevents missed problems, and improves long-term outcomes for children with NFIA-related disorders.[9]
7. Behavioral and psychological therapy
Some individuals have behavioral challenges, anxiety, attention difficulties, or autistic traits. Psychologists or behavioral therapists use structured behavioral programs, parent training, and sometimes cognitive-behavioral strategies (adapted to the child’s level) to manage tantrums, aggression, rigidity, or anxiety. The purpose is to teach the child alternative ways to communicate, cope with changes, and participate in school and family life more smoothly.[10]
8. Vision assessment and low-vision support
Structural brain differences and occasionally eye alignment problems such as strabismus are reported in NFIA-related conditions.[11] A pediatric ophthalmologist checks visual acuity, eye movements, and eye health. If vision is reduced, specialists may provide glasses, patching, or low-vision aids, and therapists may adapt learning materials (contrast, size, lighting). Good vision support is important for motor development, reading, and social interaction.
9. Hearing evaluation and audiology care
Hearing issues may not be the main feature of this syndrome but should still be checked, especially if language delay is severe. A pediatric audiologist assesses hearing and middle-ear function. If hearing loss is found, hearing aids, cochlear implants, or classroom listening devices may be recommended. Better hearing improves speech development, attention, and school performance.[12]
10. Urology and nephrology conservative management
Kidney and urinary tract defects such as vesicoureteral reflux and hydronephrosis are common.[13] Urologists and nephrologists may recommend non-drug strategies like timed voiding, encouraging regular fluids, bladder training, and close monitoring with ultrasound. Parents are taught to recognize signs of urinary tract infection early. The purpose is to preserve kidney function, limit infections, and decide if/when surgery or medicines are needed.
11. Neurosurgical monitoring and hydrocephalus follow-up
For children with ventriculomegaly or hydrocephalus, a pediatric neurosurgeon monitors head growth, imaging, and symptoms such as vomiting, irritability, or sun-setting eyes. Some children remain stable with observation; others need a shunt or endoscopic third ventriculostomy. Even when surgery is not immediately needed, regular review helps detect pressure changes early and guide the family on what warning signs should trigger urgent care.[14]
12. Orthopedic and physiatry care
Hypotonia, abnormal posture, or movement patterns can lead over time to contractures, hip displacement, or spinal deformities. Orthopedic surgeons and physiatrists monitor hips and spine with exams and x-rays and consider bracing, stretching programs, or surgery when needed. The aim is to protect mobility, reduce pain, and support comfortable sitting, standing, and walking.
13. Special education and learning support
Most children will require individualized educational plans (IEPs) with adapted curriculum, smaller class sizes, or specialist teaching. Educational psychologists and special-education teachers assess strengths and weaknesses in learning, communication, and behavior, and then design specific goals. This support helps the child access school, develop practical skills, and build self-esteem even when intellectual disability is present.
14. Assistive communication and technology
For children with very limited speech, assistive technology such as picture-exchange systems, communication boards, tablets with speech-generating apps, and adapted keyboards can be life-changing. Specialists teach the child and family how to use these tools in daily routines. The purpose is to allow communication of choices, pain, and emotions, which often reduces frustration and improves participation at school and home.
15. Family genetic counseling
Genetic counseling explains why the deletion occurred, its recurrence risk, and options for future pregnancies. In many cases the deletion arises de novo (new in the child), but in some families a parent carries a rearrangement involving NFIA.[15] Counselors can discuss prenatal testing, emotional impact, and connection to patient organizations for rare chromosome disorders. Understanding the genetic cause can reduce guilt and help families plan.
16. Psychosocial and peer-support services
Living with a rare neurodevelopmental syndrome is stressful. Social workers, psychologists, and patient-support organizations help families with practical issues (financial support, inclusive schooling, respite care) and emotional support. Meeting other families facing similar challenges reduces isolation and provides real-life tips for daily care.
17. Sleep hygiene and behavioral sleep interventions
Children with brain malformations and seizures often have sleep difficulties, such as frequent waking or irregular sleep patterns. Before using medicines, clinicians usually recommend sleep hygiene: regular bedtime routines, consistent wake times, limiting screens before bed, and creating a calm, dark bedroom environment. Sometimes behavioral sleep programs are added. Better sleep improves mood, learning, and seizure control.
18. Nutritional counseling
Growth problems can occur due to feeding issues, high energy use from muscle tone abnormalities, or chronic illness. Dietitians review calorie intake, texture, feeding schedule, and micronutrients. They can suggest calorie-dense foods, safe thickening agents, or tube-feeding if needed. The main goal is to maintain healthy growth, prevent deficiencies, and avoid obesity when mobility is reduced.
19. Respiratory and chest physiotherapy
If a child has recurrent chest infections due to aspiration or poor cough strength, respiratory physiotherapists may teach airway-clearance techniques, breathing exercises, and positioning. These strategies help move mucus out of the lungs, reduce infection risk, and improve energy for daily activities.
20. Transition planning to adult services
As teenagers with this syndrome grow older, care must gradually move from pediatric to adult services. Transition planning includes teaching the young person (as far as possible) about their condition, supporting decision-making, and connecting them with adult neurology, nephrology, urology, and disability services. Early planning avoids sudden breaks in care and supports long-term independence and safety.
Drug treatments
There is no specific drug that corrects the chromosome 1p32-p31 deletion or NFIA haploinsufficiency. Medicines are used to treat associated problems such as seizures, spasticity, urinary tract issues, reflux, constipation, and behavioral symptoms. All doses, schedules, and combinations must be chosen and monitored by specialists.
Below are examples of drug strategies commonly considered; they are based on FDA-approved indications for similar symptoms, not on approval for this rare syndrome itself.
1. Antiseizure therapy with levetiracetam
Levetiracetam (brand example: KEPPRA) is a broad-spectrum antiseizure medicine used for focal, myoclonic, and primary generalized tonic–clonic seizures.[16] It works by modulating synaptic vesicle protein SV2A, which helps stabilize neuronal firing. Labeling from the FDA describes its use as adjunctive therapy in several seizure types and recommends starting with a low dose and titrating based on response and kidney function.[17] In 1p32-p31 deletion syndrome, doctors may choose levetiracetam because it has relatively few drug interactions and can be given orally or by injection when needed.
2. Antiseizure therapy with valproate (valproic acid/valproate sodium)
Valproate is another broad-spectrum antiseizure medicine that increases brain levels of gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter.[18] FDA labels for valproic acid and valproate sodium injection describe indications for multiple seizure types and stress serious risks such as liver failure and teratogenicity in pregnancy.[19] In children with complex brain malformations, valproate may be chosen when seizures are difficult to control, but specialists must weigh benefits against risks like liver toxicity, weight gain, and metabolic effects.
3. Other antiseizure medicines (lamotrigine, topiramate, etc.)
Depending on seizure type and EEG findings, neurologists may use additional antiepileptic drugs (AEDs) such as lamotrigine, topiramate, or others, following FDA-approved indications for epilepsy. These drugs act through different mechanisms (e.g., sodium-channel modulation, glutamate receptor effects, or GABA enhancement). In NFIA-related disorder, they are used in standard ways to reduce seizure frequency and severity, often in combination with non-drug measures like sleep regulation and avoiding triggers.[20]
4. Rescue medicines for acute seizures
For prolonged seizures or clusters, doctors may prescribe rapid-acting benzodiazepines such as diazepam or midazolam in formulations approved for seizure emergencies. These medicines quickly enhance GABAergic inhibition to stop seizures. Families are trained in when and how to use them safely, and emergency plans are written so schools and caregivers know what to do.
5. Baclofen for spasticity and increased tone
Some children with this syndrome develop spasticity or increased muscle tone. Baclofen is a GABA-B receptor agonist approved by the FDA for treatment of spasticity.[21] It reduces the release of excitatory neurotransmitters in the spinal cord, relaxing muscles and improving comfort and mobility. Labels recommend starting with low doses in divided schedules and slowly increasing under medical supervision to avoid side effects such as drowsiness, low blood pressure, or withdrawal reactions if stopped suddenly.[22]
6. Other antispasticity options (tizanidine, botulinum toxin, intrathecal baclofen)
In more severe spasticity not well controlled with oral baclofen, doctors may consider additional antispasticity approaches such as tizanidine or focal botulinum toxin injections, or (very rarely) intrathecal baclofen pumps in older children. These treatments aim to reduce painful spasms, improve positioning, and facilitate physiotherapy. Choice depends on the pattern of spasticity, overall health, and family preference.
7. Oxybutynin for neurogenic or overactive bladder
If a child has bladder overactivity, incontinence, or reflux-related bladder dysfunction, urologists may prescribe anticholinergic medicines such as oxybutynin (brand example: DITROPAN XL). FDA labeling states that oxybutynin is indicated for overactive bladder and for detrusor overactivity associated with neurologic conditions, including certain pediatric patients.[23] It works by blocking muscarinic receptors in the bladder muscle, reducing involuntary contractions. Side effects can include dry mouth, constipation, and blurred vision, so careful monitoring is needed.
8. Prophylactic antibiotics for vesicoureteral reflux
For children with vesicoureteral reflux and recurrent urinary tract infections, doctors may use long-term, low-dose antibiotics (such as trimethoprim-sulfamethoxazole) according to pediatric urology guidelines. These medicines do not correct the anomaly but reduce infection risk until reflux improves or surgery is performed. Dose and duration are individualized, and the care team monitors for side effects and resistance.
9. Acid-suppressing medicines for reflux
Gastro-oesophageal reflux can worsen feeding problems and aspiration risk. Proton-pump inhibitors (PPIs) or H₂-blockers, used in standard pediatric dosing schedules, reduce stomach acid and help heal oesophagitis. They are usually combined with positioning and feeding modifications. Long-term use is monitored carefully because of possible effects on nutrient absorption and infection risk.
10. Laxatives for chronic constipation
Low tone, limited mobility, and some medicines may cause constipation. Osmotic laxatives such as polyethylene glycol are widely used in children under physician guidance to soften stools and improve bowel frequency. Adequate fiber and fluids, plus toilet routines, are always combined with laxatives. The goal is to prevent pain, fecal impaction, and worsening bladder issues due to stool burden.
11. Medicines for sleep difficulties
When behavioral sleep strategies are not enough, clinicians may occasionally use melatonin or other sleep-supporting medicines within recommended pediatric practice. These help regulate the sleep–wake cycle in children with neurodevelopmental disorders, but careful monitoring is required to avoid daytime sleepiness or interactions with other drugs (especially antiseizure medicines).
12. ADHD and behavior-modifying medicines (when indicated)
In some older children, attention-deficit, hyperactivity, or severe impulsive behavior may significantly affect safety and learning. Child psychiatrists or developmental pediatricians may consider stimulant or non-stimulant ADHD medications, following standard guidelines, when non-drug strategies alone are insufficient. These are started cautiously, with close cardiac and behavioral monitoring, because children with structural brain differences may respond differently from typical ADHD patients.
(In practice, a specialist may use a wider range of medicines than the examples above. Choices are made case by case; there is no fixed “20-drug protocol” for this syndrome.)
Dietary molecular supplements
There is no specific vitamin, mineral, or supplement proven to cure chromosome 1p32-p31 deletion syndrome. However, good nutrition and targeted supplementation can support general health, growth, bone strength, and brain function. All supplements should be discussed with a doctor or dietitian, especially if the child is on multiple medications.
Multivitamin with minerals – A balanced children’s multivitamin can cover small daily gaps in diet, especially when feeding is difficult or selective. It normally contains vitamins A, B-complex, C, D, E, and trace minerals like zinc and selenium. The purpose is to support immune function, skin and mucosal health, and general metabolism when oral intake is marginal.
Vitamin D – Vitamin D is essential for bone mineralization and muscle function. Children with limited outdoor activity or feeding difficulties are at risk for deficiency. Supplementation at standard pediatric doses helps maintain normal blood levels and supports bone growth and immune regulation. Blood tests guide dose adjustments to avoid deficiency or toxicity.
Calcium – When dietary calcium is low, supplements may be recommended to support bone density, especially in children with reduced mobility or those taking antiseizure drugs that affect bone health. Calcium works together with vitamin D in bone metabolism. The goal is to reduce fracture risk and support orthopedic stability.
Omega-3 fatty acids (DHA/EPA) – Omega-3 fats from fish oil or algae oils have roles in brain development and anti-inflammatory pathways. Some studies in neurodevelopmental conditions suggest possible benefits for attention, behavior, or mood, although evidence is not specific for this syndrome. Given in age-appropriate doses, omega-3s can be a safe adjunct to a balanced diet, provided fish-oil products are from reputable sources that control contaminants.
Iron (when deficient) – Iron deficiency can worsen fatigue, developmental delay, and attention problems. If blood tests show low iron or low ferritin, doctors may prescribe oral iron in supervised doses. Iron supports hemoglobin formation and brain myelination. Too much iron can be harmful, so supplementation should always be based on lab results rather than self-treatment.
Zinc – Zinc plays roles in immune function, wound healing, and taste and smell. Children with chronic illness or poor intake may benefit from modest zinc supplementation if deficiency is suspected. Correcting zinc deficiency can improve appetite and infection resistance, but excess zinc can interfere with copper balance, so monitoring is important.
Probiotics – Some families and clinicians use probiotic preparations to support gut health, particularly when the child has frequent antibiotics for urinary or respiratory infections. Probiotics may help restore a healthy gut flora balance and reduce antibiotic-associated diarrhea, although effects vary by strain and product.
Fiber supplements – When diet alone cannot provide enough fiber to prevent constipation, soluble fiber supplements may be used. Fiber increases stool bulk and improves bowel regularity when combined with adequate fluid intake. Careful introduction prevents bloating and discomfort.
High-calorie modular supplements – For children who cannot take sufficient calories through regular meals, specialized high-energy drinks or powders can be added. These products provide extra calories, protein, and micronutrients in a small volume, helping to maintain weight and muscle mass without overloading the stomach.
Specialized formulas for tube-feeding – If a child requires tube-feeding, dietitians select formulas that match age, kidney function, and calorie needs. Some formulas are energy-dense; others are tailored for kidney health or fluid restriction. These formulas are not “treatments” for the genetic syndrome but are essential tools to secure safe, long-term nutrition.
Immune booster, regenerative, and stem-cell-related drugs
For chromosome 1p32-p31 deletion syndrome, there are currently no approved immune-boosting, regenerative, or stem-cell drugs that specifically treat the underlying genetic cause. Research in gene therapy and stem-cell approaches for neurodevelopmental disorders is ongoing in general, but not yet standard care for this NFIA-related condition.[21]
Routine vaccinations – The most important “immune support” is staying up-to-date with all routine vaccines recommended for age. Vaccines train the immune system to prevent serious infections like pneumonia, meningitis, measles, and influenza, which can be especially risky in children with neurological conditions.
Influenza and pneumococcal vaccination – Annual flu shots and appropriate pneumococcal vaccines are often recommended because respiratory infections can be more severe in children with low tone, seizures, or feeding difficulties. Preventing these infections protects brain and lung health.
No disease-specific immune-modulating drug – There is no evidence that long-term immune-stimulating medicines (like “immune boosters” marketed as supplements) specifically improve outcomes in NFIA-related disorder. Unsupervised use of such products can sometimes cause side effects or interactions with other medicines, so any immune-active drug should only be taken under specialist advice.
Regenerative and neuroprotective research – Scientific studies are exploring neuroprotective agents and cell-based therapies for various brain malformations and genetic epilepsies, but these are still experimental. Participation in clinical trials, if available and appropriate, is decided carefully by families and specialist teams, with full understanding of potential risks and unknown benefits.
Stem-cell therapies (experimental only) – Commercial stem-cell “treatments” for neurodevelopmental disorders offered outside properly regulated clinical trials often lack strong evidence and may be unsafe or very expensive. At present, no stem-cell therapy is approved as standard treatment for chromosome 1p32-p31 deletion syndrome, and families should be warned about unrealistic promises.
Focus on protecting existing brain and kidney function – The most practical “regenerative” approach today is to prevent secondary damage: good seizure control, prevention of severe infections, protecting kidney function, adequate nutrition, and early therapies to build functional skills. These strategies help the child make the best possible use of existing brain networks.
Surgical treatments
Surgery is not used to “fix” the chromosome deletion, but certain structural complications may require operations. Decisions are highly individualized.
Ventriculoperitoneal shunt or endoscopic third ventriculostomy – If hydrocephalus develops (progressive enlargement of brain ventricles with signs of raised pressure), neurosurgeons may place a shunt to drain excess cerebrospinal fluid into the abdomen, or perform an endoscopic procedure to create a new drainage pathway. The goal is to relieve pressure, protect brain tissue, and reduce symptoms such as vomiting, lethargy, and vision problems.
Surgery for severe vesicoureteral reflux or urinary tract obstruction – When conservative management and medicines cannot control reflux or obstruction, urologists may perform procedures such as ureteral reimplantation or correction of ureteropelvic junction obstruction. These surgeries are done to protect kidney function, reduce infections, and prevent long-term kidney damage.
Orthopedic surgery for hip dislocation or severe contractures – If spasticity, hypotonia, or abnormal posture leads to hip displacement or severe joint contractures, orthopedic surgery (such as tendon lengthening or hip reconstruction) may be considered. The aim is to improve positioning, reduce pain, and allow better sitting or standing, often combined with intensive physiotherapy afterward.
Craniosynostosis surgery (when present) – Craniosynostosis (early fusion of skull sutures) has been described in some NFIA-related cases.[22] In selected children, craniofacial surgeons may operate to reopen the fused sutures, reshape the skull, and relieve brain constriction. This helps protect brain growth and can also improve head shape and sometimes eye problems.
Gastrostomy tube placement – When oral feeding is unsafe or insufficient despite therapy, a surgeon may place a gastrostomy tube (G-tube) directly into the stomach. This allows reliable, long-term delivery of nutrition, fluids, and medicines while still allowing safe oral tastes if appropriate. The purpose is not cosmetic; it is to prevent malnutrition, aspiration, and repeated hospital admissions for dehydration or poor weight gain.
Prevention strategies
Chromosome 1p32-p31 deletion syndrome itself cannot be prevented once the deletion is present, but many complications can be reduced with careful management:
Genetic counseling before future pregnancies – Parents can discuss recurrence risk, options for prenatal or pre-implantation testing, and carrier testing for other family members.
Early diagnosis and early-intervention referral – Recognizing developmental delay, seizures, or unusual brain imaging early and arranging genetic testing allows earlier therapies and support.
Regular kidney and urinary tract monitoring – Schedule periodic ultrasounds and urine checks to detect problems before permanent kidney damage occurs.
Strict infection prevention – Follow vaccination schedules, maintain good hand hygiene, and treat urinary and respiratory infections promptly.
Seizure action plan – Agree with the neurologist on what to do for prolonged seizures (rescue medicines, when to call emergency services) to reduce the risk of status epilepticus and injury.
Safe feeding and swallowing – Use appropriate textures and positions, and follow recommendations from swallow studies to prevent aspiration and lung damage.
Fall and injury prevention at home and school – Use safety gates, non-slip flooring, and appropriate supports (helmets, wheelchair belts) as needed to reduce trauma risk in children with poor balance or seizures.
Monitoring growth and nutrition – Regular weight, height, and nutritional reviews help prevent severe undernutrition or obesity, both of which worsen health outcomes.
Support for mental health and caregiver stress – Early psychosocial support reduces burnout, depression, and family breakdown, which indirectly protects the child’s health and development.
Careful medication review – Regularly review all medicines with doctors to avoid harmful interactions and to adjust doses as the child grows or as kidney function changes.
When to see a doctor urgently or routinely
Families should have clear guidance on when to seek medical help:
Urgent or emergency help is needed if the child has:
A seizure lasting longer than the agreed time in the seizure action plan, or repeated seizures without full recovery.
Sudden change in consciousness, severe vomiting, bulging fontanel (in babies), or rapidly increasing head size, which may suggest raised intracranial pressure.
High fever with vomiting, lethargy, or breathing difficulty.
Signs of urinary tract infection such as high fever, vomiting, foul-smelling urine, or unexplained irritability.
Severe pain, difficulty breathing, or any sudden change that worries the family.
Routine follow-up with genetics, neurology, nephrology/urology, and rehabilitation teams is important to:
Review developmental progress and adjust therapy goals.
Check seizure control and medicine side effects.
Monitor kidney function, blood pressure, and growth.
Update vaccines and long-term plans for education and transition to adult care.
What to eat and what to avoid
There is no special “chromosome 1p32-p31 deletion diet”, but good, balanced nutrition supports brain, bone, and kidney health. Always follow individual advice from the child’s doctors and dietitian.
Emphasize a balanced diet – Offer a mix of fruits, vegetables, whole grains, lean proteins, and healthy fats to provide energy and micronutrients.
Prioritize adequate fluid intake – Encourage regular drinking (unless fluid restriction is ordered) to support kidney function and reduce urinary infections.
Include calcium- and vitamin-D-rich foods – Dairy products, fortified plant milks, and some fish support bones, especially in children with reduced mobility.
Provide enough protein – Meat, fish, eggs, dairy, legumes, and tofu help build muscle and support immune function, important in children with chronic illness.
Use texture-modified foods when needed – For swallowing difficulties, follow recommended textures (puree, minced, soft) and thickened fluids to keep eating safe.
Avoid excessive sugar-sweetened drinks and junk food – Too much sugar and fat can lead to weight gain, which makes mobility and care more difficult and may strain the heart and kidneys.
Limit very salty foods if kidney or blood-pressure issues exist – Processed meats, chips, and salty snacks may need to be reduced if nephrologists advise a low-salt diet.
Be careful with “mega-dose” supplements or herbal products – Some over-the-counter products may interact with antiseizure or other medicines, or stress the liver and kidneys. Always check with doctors before starting new supplements.
Watch for food allergies or intolerances – If particular foods seem to cause worsening reflux, diarrhea, or eczema, dietitians and doctors can help check for allergies and adjust the diet safely.
Support enjoyable family meals – Eating together with relaxed routines can improve appetite and make feeding therapy strategies easier to implement.
Frequently asked questions
1. Is chromosome 1p32-p31 deletion syndrome the same as NFIA-related disorder?
They are closely related concepts. Many people with chromosome 1p32-p31 deletions lose part or all of the NFIA gene, and the resulting clinical picture is often called NFIA-related disorder or brain malformations with or without urinary tract defects. In some patients NFIA is disrupted by a smaller change, not a large deletion, but the core features (brain malformations plus developmental and urinary problems) overlap.[23]
2. What are the most common symptoms?
Common features include developmental delay or intellectual disability, low muscle tone, seizures, enlarged brain ventricles (hydrocephalus or ventriculomegaly), abnormalities of the corpus callosum, macrocephaly, urinary tract anomalies, and distinctive facial features. The exact combination and severity vary widely from person to person.[24]
3. How is the diagnosis made?
Diagnosis usually begins with clinical suspicion (developmental delay, seizures, abnormal brain MRI, urinary defects) and is confirmed by chromosomal microarray or other genomic tests that show a deletion in the 1p32-p31 region. Brain imaging and kidney/urinary tract imaging help define the structural problems, and a clinical geneticist interprets all results together.[25]
4. Is this condition inherited?
In many cases, the deletion occurs de novo, meaning it appears for the first time in the affected child and is not present in either parent. However, in some families a parent may carry a balanced rearrangement or a deletion with milder symptoms. Genetic testing of parents is important to understand recurrence risk for future pregnancies.[26]
5. Can it be cured?
At present there is no cure that can replace the missing chromosomal material or fully correct NFIA haploinsufficiency. Treatment focuses on supporting development, preventing complications, and improving quality of life through therapies, medicines for specific problems, and careful monitoring.
6. What is the long-term outlook (prognosis)?
Prognosis varies, because some individuals have only mild learning difficulties while others have significant physical and cognitive disabilities. Early diagnosis, good seizure control, protection of kidney function, and strong rehabilitation support can improve functional outcomes, but many people will require lifelong support in learning, daily living, and medical follow-up.
7. Will my child be able to walk and talk?
Some children do learn to walk and use spoken language, often later than peers, while others may remain non-verbal or need wheelchairs and communication devices. It is usually not possible to predict early in life. Close work with therapy teams (physio, occupational, speech) gives each child the best chance to reach their personal potential.
8. Does every child with this syndrome have seizures?
No. Seizures are common but not universal. Some children never have seizures; others may have them in early childhood and later outgrow them; some need long-term antiseizure treatment. Regular neurological follow-up and EEG tests are used when there is concern.
9. Are kidney problems always present?
Many, but not all, individuals have urinary tract defects or kidney anomalies such as reflux, hydronephrosis, or kidney hypoplasia. Regular urine tests and ultrasounds are recommended even when the child appears well, because early treatment can prevent long-term kidney damage.
10. Can my child attend a regular school?
Some children with milder involvement can attend mainstream school with extra support (classroom aides, resource teachers, adapted work). Others will need special-education settings. Education plans are individualized and should be reviewed regularly as the child grows.
11. Is behavioral or autism-like difficulty part of this syndrome?
Many rare copy-number variants that affect brain development are associated with autism spectrum features, attention problems, and other behavioral issues. In NFIA-related disorders, some children show autistic traits or significant behavioral challenges. Assessment by neurodevelopmental specialists helps guide therapy and, when needed, medication plans.
12. Are there clinical trials or research studies?
Because the condition is rare, clinical trials dedicated specifically to chromosome 1p32-p31 deletion syndrome may be limited. However, families may be able to join research on broader neurodevelopmental disorders, copy-number variants, or brain malformations. Geneticists can help identify registries and research groups studying NFIA-related conditions.
13. Should we avoid sports or physical activity?
In general, safe physical activity is encouraged, adapted to the child’s abilities. Physiotherapists can recommend suitable activities and safety measures. Contact sports or activities with high fall risk may need extra caution if seizures, poor balance, or bone fragility are issues.
14. Is pregnancy possible for affected adults?
Some adults with milder forms can become parents. Because the deletion can be transmitted to children (often with a 50% chance if present in a parent), genetic counseling before pregnancy is very important. Obstetric and genetics teams can discuss options such as prenatal testing or pre-implantation genetic testing.
15. What can families do right now to help?
The most impactful steps are:
Keep regular follow-ups with all specialists.
Enroll the child in early-intervention and school-based therapies.
Learn and apply seizure, feeding, and infection-prevention plans.
Seek emotional and practical support from professionals and peer groups.
These actions do not change the underlying chromosome deletion, but they greatly influence comfort, function, and quality of life for the child and the whole family.
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 16, 2026.
