17q23.1q23.2 microdeletion syndrome is a rare genetic condition caused by a small missing piece of chromosome 17. People with 17q23.1q23.2 microdeletion syndrome often have developmental delays, low muscle tone, feeding difficulties, and sometimes heart or skeletal differences. Signs usually begin in infancy or early childhood and the condition is lifelong, but not everyone will have the same experience. Treatment focuses on supportive care like physical, occupational, and speech therapy, plus management of heart or orthopedic issues when present. The outlook varies and depends on the features, and many children and adults with 17q23.1q23.2 microdeletion syndrome do well with coordinated care.
Overview
17q23.1q23.2 microdeletion syndromeSymptoms
17q23.1q23.2 microdeletion syndrome is usually noticed in infancy or early childhood. Common features include growth delay, small head size, feeding problems, low muscle tone, and developmental and speech delays. Some have limb or patella differences, heart or kidney defects.
Outlook and prognosis
Many living with 17q23.1q23.2 microdeletion syndrome grow and learn with tailored supports, though milestones may come later. Health needs vary; common goals include supporting development, heart health, and bone alignment. Early therapies and regular follow-up often improve long-term independence.
Causes and risk factors
17q23.1q23.2 microdeletion syndrome results from deletion on chromosome 17, usually de novo before birth. Less often inherited from a parent with the deletion or rearrangement; recurrence risk rises if a parent is a carrier. Not linked to lifestyle or environment.
Genetic influences
Genetics is central to 17q23.1q23.2 microdeletion syndrome; the condition results from a small missing segment on chromosome 17. The exact genes lost can shape severity, learning differences, growth, and heart or limb features. Most cases are new (de novo), though inheritance can occur.
Diagnosis
Doctors suspect 17q23.1q23.2 microdeletion syndrome based on developmental delays, growth differences, and congenital anomalies. Diagnosis is confirmed by genetic tests, often chromosomal microarray. Genetic diagnosis of 17q23.1q23.2 microdeletion syndrome may follow prenatal screening or postnatal evaluation.
Treatment and drugs
Treatment for 17q23.1q23.2 microdeletion syndrome focuses on each person’s needs. Care may include early therapies for speech and motor skills, heart or bone evaluations, seizure management if needed, and learning supports. A coordinated team—genetics, cardiology, neurology, orthopedics, and therapies—helps guide care.
Symptoms
Day to day, families often notice differences in growth, muscle tone, and how quickly milestones arrive. Features vary from person to person and can change over time. For context, early features of 17q23.1q23.2 microdeletion syndrome can include slower growth, feeding challenges, and developmental delays.
Babies and children may grow at a slower rate and end up shorter than peers. This can mean clothes sizes change later and weight gain needs extra monitoring. Many with 17q23.1q23.2 microdeletion syndrome benefit from regular growth checks.
Muscles can feel looser or floppy, especially in infancy. This can delay rolling, sitting, or walking, and therapy often helps.
Babies may have trouble latching, coordinating suck and swallow, or may tire easily during feeds. Reflux or slow weight gain can occur and may require help from a feeding team.
Motor and learning milestones may take longer to reach. Many with 17q23.1q23.2 microdeletion syndrome need early intervention and school supports to thrive.
How people usually first notice 17q23.1q23.2 microdeletion syndrome?
Many families first notice something around infancy or early childhood, such as slower-than-expected growth, feeding difficulties, or delays in sitting, crawling, or walking. Doctors are often alerted by small head size (microcephaly), shorter height, or congenital differences seen on exam or ultrasound, and the pattern leads to genetic testing that confirms a 17q23.1q23.2 microdeletion. For many, the first signs of 17q23.1q23.2 microdeletion syndrome are developmental delays and growth concerns that prompt a referral to genetics or neurology.
Types of 17q23.1q23.2 microdeletion syndrome
17q23.1q23.2 microdeletion syndrome is a genetic condition caused by a small missing segment on chromosome 17. There aren’t established clinical subtypes based on different breakpoints or genes within this region that are widely accepted in medical genetics. Because of that, discussions about types of 17q23.1q23.2 microdeletion syndrome focus more on individual differences in features and severity rather than true variants. Not everyone will experience every type of symptom pattern, and intensity can range from mild to more pronounced.
No recognized variants
At this time, there are no distinct, consensus variants of 17q23.1q23.2 microdeletion syndrome defined by clear genetic or clinical differences. Clinicians describe a spectrum of features that can vary person to person rather than types of 17q23.1q23.2 microdeletion syndrome.
What genetics can tell you about symptoms
Some people with 17q23.1q23.2 microdeletion syndrome have low muscle tone, feeding challenges, and delayed motor milestones because missing genes in this region act like weakened “dimmer switches” for muscle and growth signals. Others develop heart defects or short stature when genes guiding heart structure and bone growth are deleted.
Causes and risk factors
The main cause is a tiny missing piece on chromosome 17 at 17q23.1q23.2 that starts at conception. Most cases are new and not caused by anything parents did, and a few come from a parent who carries the same change or a balanced chromosome change. If a parent carries the deletion, each pregnancy has a 50% chance of inheriting it, while the chance is low when both parents test negative. Risk factors for 17q23.1q23.2 microdeletion syndrome are mostly genetic, and everyday exposures do not cause the deletion but can affect health over time. Genetic testing can sometimes clarify your personal risk.
Environmental and biological risk factors
If you’re planning a pregnancy or already expecting, it’s natural to wonder what might raise or lower the chance of a baby being born with 17q23.1q23.2 microdeletion syndrome. Risk factors for 17q23.1q23.2 microdeletion syndrome are mostly tied to how chromosomes are built and copied, with only a few known environmental influences. Doctors often group risks into internal (biological) and external (environmental).
Repeated DNA stretches in this part of chromosome 17 can misalign when eggs or sperm are formed. This misalignment raises the chance that a tiny segment is lost. It is a built-in biological vulnerability of the region.
If a parent carries a balanced chromosome change that involves this region, the chance of a child having 17q23.1q23.2 microdeletion syndrome is higher. Balanced changes usually cause no health problems for the parent, but they can lead to missing or extra pieces in children.
Rarely, a parent has a small number of egg or sperm cells with the deletion even though standard blood testing looks normal. This can slightly increase recurrence risk for 17q23.1q23.2 microdeletion syndrome in future pregnancies. It is uncommon but possible.
Most cases happen by chance, but some studies suggest new chromosome changes become a bit more likely as mothers or fathers get older. Any effect appears small and is not specific to this syndrome.
Genetic risk factors
Risk in 17q23.1q23.2 microdeletion syndrome mainly comes from a tiny missing segment on chromosome 17 that is often new in a child, but sometimes inherited. Which genes fall inside the missing piece can vary, and that helps explain why early symptoms of 17q23.1q23.2 microdeletion syndrome differ from one person to another. Risk is not destiny—it varies widely between individuals. Genetic testing can show whether the change is de novo or runs in the family, which guides recurrence risk for future pregnancies.
17q23 microdeletion: A small stretch at 17q23.1–q23.2 is missing on one copy of chromosome 17. Losing one copy of several genes can disrupt development.
TBX2 and TBX4: The deletion often includes TBX2 and TBX4, genes important for limb, heart, and lung development. Having only one working copy of these genes is a major driver of 17q23.1q23.2 microdeletion syndrome.
Usually de novo: In most families, the microdeletion happens as a new change around the time of conception. Parents typically do not carry it in their blood cells.
Autosomal dominant inheritance: If a parent has the same deletion, each child has a 50% chance to inherit it. Features can be milder or different, even within the same family.
Variable expressivity: People with the same 17q23.1q23.2 microdeletion can have different features and levels of impact. This reflects which genes are lost and other background genes.
Incomplete penetrance: Some people carrying the deletion have few or subtle signs. A parent may seem unaffected yet still pass on the deletion.
Parental mosaicism: Rarely, a parent has the deletion only in some egg or sperm cells, raising recurrence risk even when blood testing is normal. Specialized counseling can address this small possibility.
Genomic hotspots: Repeated DNA sequences in 17q23 can misalign during cell division, predisposing to the same microdeletion in unrelated families. This is why breakpoints often look similar.
Deletion size matters: The exact size and gene content differ across people with 17q23.1q23.2 microdeletion syndrome. Larger deletions remove more genes and may increase the chance of certain features.
Recurrence risk: When the deletion is de novo, the chance of it happening again is low but not zero. When inherited from a parent, the chance for each pregnancy is about 50%.
Lifestyle risk factors
Lifestyle habits do not cause 17q23.1q23.2 microdeletion syndrome, but they can meaningfully influence symptom control, growth, mobility, and complication risks. Thoughtful choices around nutrition, physical activity, sleep, and therapies can support development and reduce strain on the heart, lungs, and musculoskeletal system. This overview focuses on how lifestyle affects 17q23.1q23.2 microdeletion syndrome in day-to-day management. It highlights practical areas where routines can either help or hinder outcomes.
Calorie- and protein-adequate meals support linear growth, muscle strength, and wound healing in children who are small for age. Poor intake can worsen low muscle tone and delay motor milestones.
Speech/feeding-therapist–guided textures and pacing can improve intake and reduce aspiration risk when dysphagia is present. Skipping these strategies can lead to poor growth and more respiratory complications.
Regular PT and daily home exercises help maintain range of motion, build strength, and support motor milestones despite limb differences. Prolonged inactivity increases contractures, pain, and mobility limitations.
Clinician-guided, low-impact activity can improve endurance and bone health when cardiac or pulmonary issues are monitored. Overexertion may provoke fatigue or cardiorespiratory strain in those with congenital heart or lung involvement.
Risk prevention
17q23.1q23.2 microdeletion syndrome is a genetic condition present from conception, so the deletion itself can’t be prevented. Prevention focuses on family planning options and reducing complications through early, proactive care. Recognizing early symptoms of 17q23.1q23.2 microdeletion syndrome can help start supports sooner and avoid downstream problems. Knowing your risks can guide which preventive steps matter most.
A genetics professional can explain inheritance, recurrence risk, and testing options. This helps you understand whether future pregnancies could be affected.
Options like preimplantation genetic testing (PGT) and IVF may reduce the chance of passing on a known deletion. Prenatal tests can also be discussed before pregnancy.
During pregnancy, noninvasive screening and diagnostic tests can look for 17q23.1q23.2 microdeletion syndrome. Early results allow planning for delivery and newborn care.
If 17q23.1q23.2 microdeletion syndrome is suspected, prompt referral to physical, occupational, and speech therapy can prevent avoidable delays. Starting supports early often improves feeding, movement, and communication.
Transmission
17q23.1q23.2 microdeletion syndrome is not infectious—you can’t catch it or pass it through everyday contact, coughing, or breastfeeding. It happens because a small piece of chromosome 17 is missing and can only be passed through genes from parent to child.
If you’re wondering how 17q23.1q23.2 microdeletion syndrome is inherited, most cases occur as a brand-new change in the egg or sperm, so parents usually do not carry it. When a parent does have the same deletion, it follows an autosomal dominant pattern—each pregnancy has about a 50% (1 in 2) chance of inheriting it. Rarely, a parent may carry the change in only some cells (mosaic), which can change the chance; a genetics professional can explain the genetic transmission of 17q23.1q23.2 microdeletion syndrome for your family.
When to test your genes
Because 17q23.1q23.2 microdeletion syndrome is genetic, testing is recommended when a child shows features like growth restriction, developmental delay, limb differences, or congenital anomalies, or when there’s a relevant family history. Genetic results can confirm the diagnosis, guide therapies and surveillance, and inform recurrence risks. Prenatal testing may be considered if ultrasound findings suggest this deletion.
Diagnosis
Evaluation usually starts when a child shows a mix of growth, developmental, or limb differences that raise suspicion for a chromosome change. Early and accurate diagnosis can help you plan ahead with confidence. The genetic diagnosis of 17q23.1q23.2 microdeletion syndrome is typically confirmed with a lab test that looks for small missing pieces of DNA. Doctors then tailor follow-up tests to check for features that sometimes occur with this condition, such as heart differences or breathing concerns.
A pediatric exam looks for patterns such as small head size, short stature, limb or finger differences, and facial features. Developmental, feeding, and growth histories help shape next steps.
A detailed family and health history can help spot inherited patterns or similar features in relatives. This guides whether parents should be tested and informs future pregnancy planning.
This is the first-line genetic test to find tiny missing pieces of chromosome 17 in the q23.1–q23.2 region. A positive result confirms the microdeletion and supports the diagnosis.
Targeted tests such as FISH or MLPA can verify the specific missing segment if needed. These tests also help map the exact size and genes involved.
Stages of 17q23.1q23.2 microdeletion syndrome
17q23.1q23.2 microdeletion syndrome does not have defined progression stages. It’s a lifelong genetic change that tends to show up from birth or early childhood, and differences vary widely rather than moving through predictable steps. Doctors consider early symptoms of 17q23.1q23.2 microdeletion syndrome—such as feeding difficulties, slower growth, or limb and heart findings—alongside a physical exam and developmental checks, then confirm with a chromosome microarray test or a similar genetic test. Genetic testing may be offered to clarify certain risks.
Outlook and prognosis
Daily life with 17q23.1q23.2 microdeletion syndrome can vary a lot—some children have mild learning differences and subtle physical features, while others need support for growth, heart, or muscle concerns. Everyone’s journey looks a little different. Some early symptoms of 17q23.1q23.2 microdeletion syndrome include low muscle tone, feeding challenges, and delayed milestones; over time, many kids make steady gains with therapies like physical, speech, and occupational therapy. Heart differences can occur in a subset, so early cardiac checks matter. When thinking about the future, it helps to remember that medical follow-up and school supports often shape day-to-day progress more than the chromosome finding alone.
For most people with 17q23.1q23.2 microdeletion syndrome, life expectancy is near typical, especially when heart issues—if present—are identified and treated. Serious complications are uncommon but can happen when there are significant heart defects or breathing difficulties, particularly in early childhood. Prognosis refers to how a condition tends to change or stabilize over time. Many children continue to learn new skills through adolescence, and adults may live independently or with some supports, depending on cognitive and motor needs. With ongoing care, many people maintain good overall health and participate in school, work, and community life.
Looking at the long-term picture can be helpful. Regular check-ins with pediatrics, cardiology, and developmental specialists let teams catch concerns early and tailor therapies as needs change. Genetic testing can sometimes provide more insight into prognosis, especially if other gene changes are present that might explain differences in growth or development. Talk with your doctor about what your personal outlook might look like.
Long-term effects
People with 17q23.1q23.2 microdeletion syndrome often grow and develop on a different timeline, which can shape school needs, movement, and day-to-day independence. Long-term effects vary widely, and no two people have the exact same mix or severity over time. Some traits are noticeable in infancy, while others become clearer in childhood or the teen years. Families sometimes first spot early symptoms of 17q23.1q23.2 microdeletion syndrome through delays in sitting, walking, or first words, and these early patterns can guide long-term planning.
Cognitive abilities can range from mild to moderate differences, often with uneven strengths across subjects. Many need tailored educational support through school years. Progress can continue into adulthood at an individual pace.
Many have shorter stature and a smaller head size compared with peers. These features are typically lifelong and may be noted from infancy onward.
Speech may emerge later and remain less fluent than peers. Some have ongoing challenges with articulation or understanding complex language.
Sitting, standing, and walking can be delayed, with clumsiness or low muscle tone persisting for some. Fine motor skills like handwriting or buttoning may remain harder over time.
How is it to live with 17q23.1q23.2 microdeletion syndrome?
Living with 17q23.1q23.2 microdeletion syndrome often means navigating developmental delays, learning differences, and sometimes medical needs like growth concerns, heart differences, or feeding challenges in infancy. Day to day, families may coordinate therapies, school supports, and regular check-ins with specialists, celebrating steady gains while adjusting routines to match a child’s pace and strengths. For siblings, relatives, and teachers, clear communication and consistent strategies help everyone stay aligned, reduce stress, and reinforce progress. Many families find a strong rhythm over time, building confidence through early intervention, tailored education plans, and supportive communities.
Treatment and drugs
Treatment for 17q23.1q23.2 microdeletion syndrome focuses on easing symptoms, supporting development, and preventing complications. Care typically involves a team approach with early developmental therapies (physical, occupational, and speech therapy), educational support, and targeted care for features such as feeding difficulties, growth concerns, or heart differences. Doctors sometimes recommend a combination of lifestyle changes and drugs, for example using medications to manage seizures, reflux, or attention and behavior challenges if they occur. Regular follow-up with genetics, pediatrics, cardiology, neurology, and other specialists helps tailor care over time and adjust plans as needs change. Supportive care can make a real difference in how you feel day to day.
Non-drug treatment
For many families, day-to-day support matters as much as medical visits when living with 17q23.1q23.2 microdeletion syndrome. Non-drug treatments often lay the foundation for progress, helping with movement, feeding, communication, and learning. Early symptoms of 17q23.1q23.2 microdeletion syndrome can be subtle, so starting supportive therapies early can make a real difference. Plans are individualized and usually evolve as children grow and school demands change.
Coordinated services in infancy and toddler years help build motor, language, and social skills. Teams tailor goals as development unfolds. This often includes parent coaching to carry skills into daily routines.
Exercises and play-based movement improve strength, balance, and coordination. Therapists may suggest stretches, core work, and ways to support gross motor milestones.
Fine-motor practice, sensory strategies, and self-care training help with dressing, grasp, and school tasks. Adaptive tools or splints may support hand use if there are limb differences.
Support targets early feeding and oral-motor skills, then speech sounds, understanding, and social communication. Augmentative and alternative communication can provide a voice while speech develops.
Your genes may have an impact on how drugs work for you
Genes can change how your body handles certain medications for 17q23.1q23.2 microdeletion syndrome, affecting dose needs, benefits, and side‑effect risks. Pharmacogenetic testing and careful monitoring help clinicians choose safer options and adjust dosing over time.
Pharmacological treatments
There isn’t a single “one-size-fits-all” drug for 17q23.1q23.2 microdeletion syndrome. Medicines are chosen based on specific needs like pulmonary blood pressure, seizures, reflux, behavior, or heart function. Not everyone responds to the same medication in the same way. Your care team will tailor choices, monitor effects, and adjust over time to match what helps most day to day.
When TBX4-related pulmonary arterial hypertension is present, specialists may use sildenafil or tadalafil; bosentan, ambrisentan, or macitentan; and sometimes prostacyclin-pathway drugs like epoprostenol, treprostinil, iloprost, or selexipag. These medications for pulmonary hypertension in 17q23.1q23.2 microdeletion syndrome require close monitoring of blood pressure, oxygen levels, and liver function. Care is usually coordinated in a pulmonary hypertension center.
If seizures occur in 17q23.1q23.2 microdeletion syndrome, common options include levetiracetam, valproate, or lamotrigine. Doctors match the drug to seizure type and age, and they check levels and side effects over time.
When congenital heart disease leads to heart failure, diuretics like furosemide and spironolactone can ease fluid buildup. ACE inhibitors such as enalapril and sometimes beta-blockers may support heart function in 17q23.1q23.2 microdeletion syndrome.
For frequent reflux, acid-reducing drugs like omeprazole or lansoprazole can protect the esophagus and improve feeding comfort. In 17q23.1q23.2 microdeletion syndrome, this may help with irritability, coughing after feeds, or slow weight gain.
Genetic influences
This syndrome is linked to a tiny missing piece of chromosome 17 in the 17q23.1–q23.2 region. That missing segment removes one copy of several genes that guide early development, including genes involved in limb, heart, and lung formation. Even with the same gene change, people can have very different features and support needs, in part because the size of the missing piece and which genes are lost can differ. In most families, the microdeletion happens for the first time in the child (a de novo change) and is not inherited from either parent; it isn’t caused by anything a parent did before or during pregnancy. Less often, a parent carries the same deletion—sometimes with mild or no symptoms—or has a chromosome rearrangement, which can raise the chance of it happening again. Genetic testing for 17q23.1q23.2 microdeletion syndrome, together with parental testing and genetic counseling, can clarify whether it was inherited and help estimate recurrence risk for future pregnancies.
Is 17q23.1q23.2 microdeletion syndrome genetic?
Genetics is central to 17q23.1q23.2 microdeletion syndrome; the condition results from a small missing segment on chromosome 17. The exact genes lost can shape severity, learning differences, growth, and heart or limb features. Most cases are new (de novo), though inheritance can occur.
Pharmacogenetics—how genetics influence drug effects
For people with 17q23.1q23.2 microdeletion syndrome, medicines are chosen to manage day-to-day needs—such as development and behavior, muscle tone, and heart or lung concerns—and genetics can sometimes guide dose and drug choice. The microdeletion itself doesn’t usually include the common genes that control how drugs are broken down, so response to medicine is more influenced by a person’s separate variants in liver enzymes (often called the CYP enzymes). Those variants can change how well pain relievers like codeine, certain antidepressants and anti-anxiety medicines, and some seizure medicines work (if used), and how likely side effects are. Organ involvement matters too: heart or lung conditions and smaller body size may lead doctors to avoid medicines that affect heart rhythm or breathing, and to start with lower doses that are adjusted slowly. Alongside medical history and current medicines, genetic testing can sometimes identify how your body is likely to process specific drugs. If several treatments haven’t worked as expected, you can ask whether pharmacogenetic testing in 17q23.1q23.2 microdeletion syndrome might help tailor therapy and reduce trial-and-error.
Interactions with other conditions
Day to day, other health issues can shape how 17q23.1q23.2 microdeletion syndrome shows up and how hard symptoms feel. Doctors call it a “comorbidity” when two conditions occur together. Heart differences present at birth and lung problems, including pulmonary hypertension, can add to feeding fatigue, fast breathing, and poor weight gain; when colds or asthma flare, breathing and sleep can be more strained. Orthopedic issues like hip instability or clubfoot may compound low muscle tone, so delays in sitting, standing, or walking can be more noticeable, and therapy plans often need to account for both. Recurrent ear infections or hearing loss can make early symptoms of 17q23.1q23.2 microdeletion syndrome—such as delayed speech—harder to interpret, while vision problems may further affect learning and balance. Some families also see reflux, constipation, or feeding difficulties interact with growth concerns, making nutrition support especially important. With careful care, many people live well despite having both 17q23.1q23.2 microdeletion syndrome and another condition, and coordinated follow-up with cardiology, pulmonology, orthopedics, and developmental services can help keep progress on track.
How genes can cause diseases
Humans have more than 20,000 genes, each carrying out one or a few specific functions in the body. One gene instructs the body to digest lactose from milk, another tells the body how to build strong bones and another prevents the body's cells from beginning to multiply uncontrollably and developing into cancer. As all of these genes combined are the building instructions for our body, a defect in one of these genes can have severe health consequences.
Through decades of genetic research, we know the genetic code of any healthy/functional human gene. We have also identified that in certain positions on a gene, some individuals may have a different genetic letter from the one you have. We call these hotspots "Genetic Variations" or "Variants" in short. In many cases, studies have been able to show that having the genetic letter "G" in the position makes you healthy, but having the letter "A" in the same position disrupts the gene function and causes a disease. Genopedia allows you to view these variants in genes and summarizes all that we know from scientific research, which genetic letters (Genotype) have good or bad consequences on your health or on your traits.
History
Throughout history, people have described babies who were smaller than expected at birth, had feeding challenges, or later showed delays in walking and talking. Families sometimes recalled a cousin with a similar facial look or a relative who needed extra help in school. Long before genetic testing, these patterns were noticed but rarely linked to a single cause. Doctors grouped features by what they could see and measure—growth, learning, heart structure—without knowing the shared thread.
From early theories to modern research, the story of 17q23.1q23.2 microdeletion syndrome follows the wider arc of genetics. In the late 20th century, chromosome studies could spot large missing or extra pieces, but not the smaller, hard‑to-see gaps. As molecular tools improved, especially with array-based testing in the early 2000s, clinicians began to find tiny missing segments on the long arm of chromosome 17. Some children first came to attention because of a heart difference found on ultrasound, others for slow growth or low muscle tone; only later did testing reveal they shared the same small deletion.
Initially understood only through symptoms, later cases helped map which missing genes lined up with which features. Reports showed that people with 17q23.1q23.2 microdeletion syndrome might have combinations of growth restriction, developmental delay, heart conditions, or limb differences, while others had milder findings. This variability explained why earlier descriptions were fragmented and why many families did not receive a unifying name. As more centers shared data, the condition moved from a scattered set of case reports to a recognized microdeletion syndrome.
In recent decades, awareness has grown as prenatal and pediatric genetics became more available. Clinicians learned that the deletion can be inherited or can arise for the first time in a child, which clarified why some family trees showed a pattern and others did not. International databases helped confirm the typical size and location of the missing piece at 17q23.1q23.2, while also showing that not everyone with the deletion has the same medical needs.
Knowing the condition’s history helps explain today’s approach: careful clinical checks, targeted genetic testing, and support tailored to each person’s mix of strengths and challenges. What began as scattered observations has become a clearer picture, guiding earlier recognition of 17q23.1q23.2 microdeletion syndrome and more coordinated care for those living with it.