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Smith-Magenis Syndrome

Smith-Magenis syndrome (SMS) is a rare genetic condition that affects learning, behavior and, above all, sleep. Most people are affectionate and engaging, and most also need steady support with sleep, self-injury, speech and health checks. A genetic test confirms it, and a care team, therapies and school supports can help.

Get help right away for these. Call 911 or go to the nearest emergency room if someone is in immediate danger from self-injury or aggression, or has seriously hurt themselves. Self-injury is nearly constant in SMS, seen in more than 95% of people, and inserting objects into body openings is reported in about 3 in 10. Decreased sensitivity to pain and temperature can make the consequences of these behaviors worse (Rinaldi et al., 2022), so injuries may be more serious than the person seems to feel. Any head injury, bleeding, swallowed object or object stuck in an ear, nose or elsewhere needs a medical check.

Seek emergency care for these medical signs:

  • a bluish color of the skin, lips or fingernails, fast or difficult breathing, or a baby who is unusually sleepy or tires out during feedings, which can be signs of a heart defect (MedlinePlus);
  • a seizure that lasts longer than 5 minutes, or repeated seizures without waking in between, which is a medical emergency (MedlinePlus);
  • flashes of light, sudden vision changes or a sudden increase in floaters, which can be signs of a serious retinal problem that needs care right away. Retinal detachment is a medical emergency (MedlinePlus).

See a doctor promptly for fever with back or side pain or burning urination, which can be signs of a urinary tract infection (MedlinePlus); ear pulling, fluid draining from an ear or new hearing problems (MedlinePlus); and a back leaning to one side or uneven shoulders and hips (MedlinePlus). See “Health checks and warning signs” below.

Severe sleep loss is a safety issue too. If a child is awake and unsupervised at night, or caregivers are too exhausted to stay safe, tell the doctor now. Sleep problems in SMS can be treated (Kaplan et al., 2020).

Caregivers and older teens in crisis: call, text or chat with the 988 Suicide & Crisis Lifeline, free and confidential, 24 hours a day (988 Lifeline).

What is Smith-Magenis syndrome?

Smith-Magenis syndrome (SMS) is a developmental disorder that affects behavior, emotions and learning. Its major features are distinctive facial features, sleep disturbances, behavioral problems, mild to moderate intellectual disability, and delayed speech and language (MedlinePlus Genetics). It was first described in 1982 and later named for the two doctors who described the pattern, Ann Smith and Ellen Magenis (Rinaldi et al.). It affects at least 1 in 25,000 people, though many are probably never diagnosed, so the true figure may be closer to 1 in 15,000 (MedlinePlus Genetics). Other names include 17p- syndrome and chromosome 17p deletion syndrome (MedlinePlus Genetics).

What causes it, and does it run in families?

In most people, SMS comes from a small missing piece (a deletion) on the short arm of chromosome 17, at a spot called 17p11.2. The missing piece is usually about 3.7 million DNA building blocks long. Researchers believe that losing one gene in that stretch, RAI1, causes many of the features. The RAI1 protein helps control other genes, including genes that run daily (circadian) rhythms such as the sleep-wake cycle (MedlinePlus Genetics). About 90% of people have the deletion, and about 10% have a change within RAI1 itself (Rinaldi et al.).

SMS is usually not inherited. It typically happens when eggs or sperm form, or very early in development, and most people have no family history. In a small number of families, a parent with no signs of the condition carried the change only in their egg cells, so, rarely, the condition can run in a family (MedlinePlus Genetics). A genetic counselor can talk through the chances for your family (MedlinePlus).

People with a RAI1 change are less likely than those with the deletion to have short stature, hearing loss, or heart or kidney differences (MedlinePlus Genetics).

What does SMS look like at different ages?

Babies and toddlers

Babies often have low muscle tone (hypotonia), seem unusually sleepy and have feeding difficulties. They may make few sounds, and in the first months some need to be woken for night feedings. This has been summed up as “quiet babies sleeping poorly”, and parents may call them “perfect babies.” Walking comes on average at 20 to 25 months, and about two-thirds say first words by age 3. Speech is delayed more than understanding (Rinaldi et al.). The face can look subtle in early childhood and becomes more distinctive later (MedlinePlus Genetics). Because the signs are subtle early on, most children are diagnosed in mid-childhood (Gropman et al., 2006).

School age and teens

  • Learning. Most people have a mild to moderate intellectual disability (MedlinePlus Genetics). In school, long-term memory and perceptual skills tend to be strengths, while short-term memory, step-by-step (sequential) processing and math are weaker. Behavior, hyperactivity and distractibility often lower school performance further (Rinaldi et al.).
  • Communication and personality. People with SMS are typically affectionate and engaging (MedlinePlus Genetics). In a registry of 82 people, more than 40% had strengths in social interest, humor and memory for people, past events or facts. About 60% communicated using speech, most people with SMS were using speech by age 6, and 41% had used sign language before speech (Brennan et al., 2024).
  • Behavior. Most people also have temper tantrums and outbursts, aggression, anxiety, impulsiveness and trouble paying attention. Self-injury is very common, including biting, hitting, head banging and skin picking. Other behaviors include self-hugging and “lick and flip” (licking fingers and flipping pages) (MedlinePlus Genetics). Nail pulling and inserting objects into body openings are especially typical of SMS. Behavior is affected by age, sleep, communication skills and surroundings (Rinaldi et al.).
  • Emotions. Emotional reactions can look much younger than schoolwork: researchers describe an “inner toddler,” with academic skills near a 6- to 8-year-old level and emotional reactions nearer a 1- to 3-year-old level, which can make friendships hard (Rinaldi et al.).
  • Body. Other common signs include short stature, scoliosis, obesity, a hoarse voice, hearing loss and nearsightedness. Heart and kidney differences are less common (MedlinePlus Genetics). Weight tends to rise from preadolescence, and overeating and food-seeking appear with adolescence (Rinaldi et al.).

Autism and ADHD. Speech delay and repetitive movements can resemble autism, and before SMS was identified many people were diagnosed with ADHD, autism or a psychiatric disorder (Rinaldi et al.). If that happened to your family, a genetic test may be worth asking about. See our Autism and ADD & ADHD guides.

Adulthood

A scoping review of adults found that many childhood features continue, including self-injury, aggression, sleep-wake problems and seizures (Korteling et al., 2024). Adults generally rely on caregivers (Rinaldi et al.).

How is SMS diagnosed?

Doctors suspect SMS from the combination of physical, developmental and behavioral features and the sleep disorder (Gropman et al.). Genetic testing can help confirm or rule out a suspected genetic disease (NIH GARD). It looks for changes in DNA, usually in a blood or cheek-swab sample (MedlinePlus). Genome-wide tests such as array-CGH and next-generation sequencing are the approaches used to find the molecular cause. Only about half of the people doctors suspected of having SMS were confirmed by genetic testing, which suggests that other genes can produce a similar picture (Rinaldi et al.). For rare conditions, getting an accurate diagnosis takes more than six years on average, and a children’s hospital or university center with a multidisciplinary team can help (NIH GARD).

A diagnosis is a starting line. There is no specific therapy for SMS, so care means treating each problem as it arises (Rinaldi et al.). Early, targeted intervention and sticking with therapy can improve overall health, quality of life and social functioning (Rinaldi et al.). GARD suggests building a team that can include a neurologist, a geneticist and an endocrinologist (NIH GARD).

You are carrying a lot. In a French study, 70% of parents had to change their working hours, and about half of the children could follow adapted schooling (Rive Le Gouard et al., 2021). Needing support is not a failure. It is the expected part of caring for a child with SMS, and the sections below cover where to find it, including a parent organization that GARD lists for SMS.

Side by side

Six approaches compared

For every condition we look at the same six approaches: what each involves, what it typically costs, and what a patient can realistically expect.

ApproachWhat it involves Estimated costWhat to expect
Conventional medicine (AMA) A genetics-led team (genetics, neurology, sleep, hearing, eye, heart, kidney and spine checks as needed), early intervention and school services, speech, occupational and physical therapy, behavior support, and sleep treatment that can include sleep routines, melatonin, a beta-blocker or an FDA-approved sleep medicine. There is no cure. Early intervention is free or reduced-cost with no doctor referral; school services are free under IDEA; Medicaid covers medically necessary care for enrolled children under 21; Medicare Part B pays 80% of the approved amount of medically necessary outpatient physical therapy after the deductible. Genetic testing, speech and occupational therapy, and sleep medicines: cost estimate being researched. Treatment does not cure SMS, but good sleep, behavior support, therapy and regular health checks can improve health, quality of life and daily life for the whole family.
Chiropractic Spinal manipulation. We found little research on it for SMS. About $55–$100 for a self-pay follow-up visit and $90–$200 for a first visit. Not a treatment for SMS. Scoliosis in SMS needs monitoring by a doctor, and reviews of manipulation for idiopathic scoliosis found very low-quality evidence.
Acupuncture Thin needles, sometimes with electrical stimulation. We found little research on acupuncture for SMS. About $125–$230 for a first private visit and $90–$185 for follow-ups; community clinics about $50–$90. No proven benefit for SMS. Needles can be hard for a child who dislikes touch, and reduced pain sensitivity means a child may not show pain.
Herbal medicine No herb or supplement has been shown to treat SMS. Melatonin, a hormone supplement, is often used for sleep, with a clinician’s guidance. Cost estimate being researched. Melatonin may shorten the time to fall asleep but has limited effect on total sleep or behavior. Supplement labels can be inaccurate, and many supplements haven’t been tested in children.
Massage therapy Gentle massage, adapted to the person’s touch and sound sensitivities. We found little research on massage for SMS. At one national chain, about $125–$160 for a 60-minute massage for non-members; memberships run about $70–$90 a month. May relax some people, but it is not a treatment for SMS. Avoid vigorous deep-tissue work, and agree on a clear way for the person to say “stop.”
MBHA Wellness Coach Family-centered support: sleep routines and sleep diaries, behavior and trigger tracking, visits and records, school and benefits navigation, safe food routines, caregiver wellbeing and respite, and connecting with other SMS families. Cost estimate being researched. Parent Centers, early intervention and school services are free to families. Supports, but never replaces, your child’s medical, therapy and school team.

Approach 1 of 6

Conventional medicine (AMA)

SMS cannot be cured, and no specific therapy exists, so conventional care means treating each problem. Treatment focuses on behavioral and educational help for the two central traits, behavior and sleep (Rinaldi et al., 2022). Optimal care is multidisciplinary and needs strong parental involvement (Rive Le Gouard et al., 2021).

1. A care team that knows SMS

  • Start with a pediatrician or primary care provider and ask for a referral to a geneticist. GARD notes that most primary care providers are not familiar with rare diseases, so a coordinated team of specialists helps (NIH GARD).
  • GARD lists Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS) as an organization that may maintain a list of experts and expert centers for SMS (NIH GARD).
  • Keep a folder with your child’s genetic report and a list of specialists.

2. Early intervention (birth to age 3)

  • Every state and territory has a publicly funded early intervention program that provides services free or at reduced cost to any eligible child. Services may include speech, physical and occupational therapy. A doctor’s referral is not needed. Call your state’s program and ask for an evaluation (CDC).
  • This is Part C of the federal Individuals with Disabilities Education Act (IDEA), written into an Individualized Family Service Plan (ECTA Center).
  • Because babies with SMS often have low muscle tone, feeding difficulties and delayed speech (Rinaldi et al.), early evaluation can start therapy before a genetic diagnosis arrives. You don’t need to wait for one. See our Hypotonia guide.

3. Speech, occupational and physical therapy

  • Speech and language. Delays and impairment are common, but in a 2024 registry most people with SMS communicated with speech by age 6, and neither hearing loss nor ear infections made language impairment worse (Brennan et al., 2024). Many families use sign language as a bridge: 41% of that registry had used it before speech. Velopharyngeal insufficiency, where the soft palate does not close off the nose properly, is recurrent in SMS and may lead to nasal-sounding speech, sound errors and swallowing difficulties, so ask about it (Rinaldi et al.).
  • Occupational and physical therapy. Physical, speech and occupational therapy are among the treatments for developmental disabilities (MedlinePlus). SMS involves low muscle tone, delayed motor milestones, daily-living skills that can fall behind with age, and sensitivity to touch and sound (Rinaldi et al., Brendal et al.), the kinds of needs these therapists work on.
  • Adults. Medicare Part B helps pay for medically necessary outpatient physical therapy after the deductible, with no yearly cap on what it pays (Medicare.gov).

4. School: special education and the IEP

Under IDEA Part B, eligible children with disabilities ages 3 to 21 have the right to a free appropriate public education in the least restrictive environment, planned in an Individualized Education Program (IEP) (ECTA Center). For a child age 3 or older, contact any local public elementary school and ask for a preschool special education evaluation (CDC). Ideas to bring to the IEP meeting:

5. Behavior support and medicines

  • Start with behavior and environment. A 2025 review of 18 trials in children with intellectual disability (not SMS specifically) found that non-drug, mostly psychosocial, interventions significantly reduced behaviors that challenge while the medicines tested did not, though the effect was small, the studies were small and the overall pooled reduction was not significant. It supports using non-drug approaches first (Lye et al., 2025).
  • Look for medical causes. A systematic review found links between challenging behavior and urinary incontinence, pain related to cerebral palsy and long-term sleep problems, and between self-injury and visual impairment. The evidence was generally low (de Winter et al., 2011). Sleep loss and vision problems are worth checking in SMS, along with the ear infections and constipation that are common in it, and because pain sensitivity may be reduced, a medical cause can be hard to spot.
  • Medicines. Evidence for medicines in SMS is scarce and rests mostly on clinical experience, case reports and small series. In one retrospective study, stimulants were the preferred treatment for hyperactivity, clonidine was sometimes added, and an antipsychotic improved hyperactivity and maladaptive behavior including aggression and self-injury, with possible side effects of weight gain, increased appetite, high blood fats, insulin resistance and fatigue (Rinaldi et al.). Ask the prescriber to explain monitoring. We don’t list doses.
  • For more on ADHD medicines see our ADD & ADHD guide, and for general behavior strategies our Behavioral Problems guide.

6. Sleep and health checks

Sleep treatment is covered in the “Sleep and the body clock” section, and the hearing, eye, heart, kidney and spine checks in “Health checks and warning signs.”

What it costs

  • Early intervention (under 3): free or reduced cost for eligible children, no referral needed (CDC).
  • School services (3 to 21): a free appropriate public education under IDEA (ECTA Center).
  • Medicaid: children under 21 enrolled in Medicaid are entitled to EPSDT, which requires states to provide medically necessary services needed to correct or ameliorate health conditions (Medicaid.gov).
  • Medicaid waivers: some states cover habilitation and respite care through home and community-based waivers, which can be limited to a set number of people (Medicaid.gov).
  • Medicare physical therapy: after the Part B deductible, you pay 20% of the Medicare-approved amount (Medicare.gov).
  • Genetic testing, speech therapy, occupational therapy and sleep medicines: cost estimate being researched.

Find a medical doctor in our directory

Approach 2 of 6

Chiropractic

We found little research on chiropractic care for SMS. A PubMed search on October 28, 2026 for chiropractic or spinal manipulation together with Smith-Magenis returned no records (PubMed search). It is not a treatment for SMS or its sleep and behavior features.

Scoliosis

Curved spine is common in SMS: 43% of the French group had scoliosis (Rive Le Gouard et al.). A case report described a severe, progressive curve in a girl with SMS that bracing did not stop and that was corrected with surgery (Tsirikos et al., 2010). Scoliosis in SMS should be followed by a doctor, with checkups, bracing or surgery decided by curve size and growth (MedlinePlus). A 2023 review of four trials in adolescent idiopathic scoliosis, a different condition from SMS, found the evidence too low in quality to support spinal manipulation (Sun et al., 2023).

Safety

Mild soreness after manipulation is common and usually passes within 24 hours. Serious problems are very rare but may be more likely in people with underlying health problems that raise the risk of injury (NCCIH). Tell any practitioner about scoliosis and any heart or kidney differences, and check with your child’s doctor first. Do not use chiropractic care in place of scoliosis monitoring.

What it costs

A typical self-pay follow-up visit runs about $55–$100 and a first visit about $90–$200 (The Pricer).

Find a chiropractor in our directory

Approach 3 of 6

Acupuncture

We found little research on acupuncture for SMS. A PubMed search on October 28, 2026 for acupuncture, acupressure or electroacupuncture together with Smith-Magenis returned no records (PubMed search). Any benefit for sleep or behavior in SMS is unproven.

Things to think about

  • Touch and sensory needs. People with SMS can have touch (tactile) aversion and sound hypersensitivity (Rinaldi et al.). Needles and a busy clinic can be overwhelming.
  • Reduced pain sensation. Because pain sensitivity may be decreased, a person may not show or say when something hurts (Rinaldi et al.). A trusted adult should stay in the room and watch for signs of distress.
  • Safety. Relatively few complications are reported, but nonsterile needles and improper treatment have caused infections, punctured organs and nervous system injury. Most states license acupuncturists (NCCIH).

What it costs

Private sessions run about $125–$230 for a first visit and $90–$185 for follow-ups; community clinics with shared rooms charge about $50–$90 (The Pricer).

Find an acupuncturist in our directory

Approach 4 of 6

Herbal medicine

No herb or supplement has been shown to treat SMS. A PubMed search on October 28, 2026 for herbal medicine or supplements together with Smith-Magenis returned three records, none of them about an herbal or supplement treatment (PubMed search). We found little research.

Melatonin for sleep, only with your child’s clinician

Melatonin is a hormone supplement rather than an herb, and it is the most common non-prescription sleep aid for SMS. Evidence consists of small case series and parent reports. Short trials found a decrease in the time to fall asleep, with little effect on total sleep or behavior (Rinaldi et al., 2022). In a 2025 study of 20 children with SMS, melatonin partly improved sleep, and daytime melatonin levels stayed very high, which the authors suggested might reflect build-up from supplements (Comajuan et al., 2025).

  • NCCIH advises parents to speak with a health care provider before giving melatonin to a child. Little is known about long-term use or effects on puberty (NCCIH).
  • A 2023 study found 22 of 25 over-the-counter melatonin gummies were inaccurately labeled, and melatonin ingestion by young children has led to many emergency visits, so store it out of reach (NCCIH).
  • Timing matters in SMS because of the upside-down body clock. The treatment idea is to block daytime melatonin and give melatonin in the evening (De Leersnyder, 2006), so let the prescriber decide when to give it. We don’t list doses.

Other supplements

Many dietary supplements haven’t been tested in children (NCCIH). Because medicines for sleep, hyperactivity and behavior are common in SMS, tell your child’s doctor and pharmacist about every herb, vitamin and supplement, and bring the bottles to appointments.

Approach 5 of 6

Massage therapy

We found little research on massage for SMS. A PubMed search on October 28, 2026 for massage together with Smith-Magenis returned no records (PubMed search). Some people with SMS may enjoy firm, predictable touch, but it is not a treatment for SMS.

Follow the person’s lead

  • Touch aversion and hypersensitivity to sound are part of the SMS picture (Rinaldi et al.), so choose a quiet room and a calm therapist, and stop if the person pulls away.
  • Reduced pain sensitivity (Rinaldi et al.) means a person may not say when pressure is too much. Choose light to moderate pressure and agree on a simple way to say “stop.”

Safety

The risk of harm from massage appears low. Rare serious problems have occurred, sometimes with vigorous deep-tissue massage. Most states license or certify massage therapists (NCCIH). Avoid deep-tissue or vigorous work, and tell the therapist about scoliosis, heart or kidney differences and skin picking sores.

What it costs

Prices vary by location. At one national chain, published price lists show about $125–$160 for a 60-minute massage for non-members, and memberships run about $70–$90 a month (The Pricer). Tips are extra.

Find a massage therapist in our directory

Approach 6 of 6

MBHA Wellness Coach

Caring for someone with SMS takes teamwork and stamina. An MBHA Wellness Coach can help with the everyday side of life, working alongside, never instead of, your doctors, therapists and school.

Sleep routines and a sleep diary

Good sleep habits include regular day and night routines, relaxing bedtime rituals, a dark bedroom at night, and avoiding caffeine and electronic devices (Rinaldi et al.). A coach can help you build the routine and keep a sleep diary of bedtimes, night wakings, naps and behavior to share with the doctor. See also our Sleep Problems guide.

Tracking triggers and good days

Behavior is shaped by sleep, communication skills, age and surroundings (Rinaldi et al.), so a simple log of what happened before and after an outburst can reveal patterns. It supports the functional assessment a behavior specialist may do (Shawler et al.). Celebrate strengths too: affection, humor and memory for people and facts are common (Brennan et al.).

Food and activity routines

Overeating and food-seeking appear with adolescence, and weight rises from preadolescence (Rinaldi et al.). A coach can help the family set predictable mealtimes and active routines. See our Weight Control guide, and for constipation our Bowel Problems guide.

Appointments, records and school meetings

Prepare questions and a one-page summary for each visit, since building the right care team is key to long-term health with a rare disease (NIH GARD). A coach can help you practice for the IEP meeting and connect you with a Parent Center (Center for Parent Information and Resources).

Caring for the caregivers

Connecting with other families

  • GARD lists PRISMS, a parent and researcher organization for SMS. GARD notes that patient organizations can help families connect, build public awareness and drive research (NIH GARD).
  • MedlinePlus Genetics points families to the National Organization for Rare Disorders (NORD) for patient support (MedlinePlus Genetics).

Planning for adulthood

Many adults with SMS need ongoing help with daily tasks (Rinaldi et al.), and a review found that many childhood features continue into adulthood (Korteling et al.). A coach can help you start thinking early about housing, day programs and the Medicaid options above.

Another approach

Sleep & the body clock

Disrupted sleep is characteristic of SMS and usually starts early in life. People may have trouble falling asleep, wake several times at night and early in the morning, and be very sleepy during the day (MedlinePlus Genetics). Nearly everyone with SMS has a sleep problem (Rinaldi et al.), and in a review across genetic syndromes, excessive daytime sleepiness was highest in SMS, at 60% (Agar et al., 2021).

The upside-down melatonin rhythm

Melatonin is a hormone the brain makes in response to darkness (NCCIH). In most people with SMS, it is active during the day rather than at night (Rinaldi et al.). The RAI1 protein helps control genes that run daily rhythms, and the missing gene appears to disrupt them (MedlinePlus Genetics). The melatonin reversal is probably not the only cause, because sleep problems also occur in people with normal melatonin (Rinaldi et al.).

Poor sleep and behavior go together. In a study of 17 children with SMS, worse sleep disturbances went with more severe behavior problems (Garayzábal et al., 2022). Improving sleep has been shown to improve behavior, and so quality of life for people with SMS and their caregivers (Kaplan et al., 2020). Mention snoring, bed-wetting and teeth grinding, which can make night sleep worse (Rinaldi et al.).

What treatment usually includes

  • Sleep habits first. Regular day and night routines, calming rituals, a dark sleep space and no caffeine or screens at night (Rinaldi et al.).
  • Melatonin at night. A common non-prescription treatment, backed by small case series and parent reports. Short trials found shorter time to fall asleep and little effect on total sleep or behavior (Rinaldi et al.). A prospective study of 20 children found partial benefit and possible daytime build-up (Comajuan et al., 2025).
  • A beta-blocker in the morning. This class of medicine blocks the daytime melatonin surge. In a small study of nine children, a single morning dose suppressed the daytime melatonin, and behavior, concentration and sleep improved (De Leersnyder et al., 2001). Combined with evening melatonin this combination has been described as beneficial (Rinaldi et al.). In the 2025 study, children on beta-blockers tended to have later sleep onset, more night wakings and less total sleep, so more study is needed (Comajuan et al.).
  • An FDA-approved melatonin-receptor medicine. The prescription medicine tasimelteon is FDA-labeled for nighttime sleep disturbances in SMS, as capsules for ages 16 and up and as an oral liquid for ages 3 to 15. In a 9-week crossover trial of 25 people with SMS, it improved sleep quality on the worst nights compared with placebo, while the gain in total sleep time on those nights was not statistically significant. The label warns it can cause sleepiness, and the most common side effects were headache, a rise in a liver blood test, nightmares or unusual dreams, and respiratory or urinary infections (DailyMed drug label).
  • Other medicines. Sleep treatment can also include melatonin-receptor medicines, beta-blockers and stimulant medications (Kaplan et al.). Other medicines are used based on clinical experience (Rinaldi et al.).

Because SMS is rare, many doctors are not familiar with its sleep patterns, and parents can end up without medical support (Wiater et al., 2026). Ask for a referral to a sleep specialist or an SMS clinic if sleep is not improving. We don’t list doses.

Another approach

Health checks & warning signs

SMS can affect many body systems. Not every person has every problem, but regular checks catch the common ones early. Ask your doctor which checks are due.

Hearing and ears

  • Of 76 people with usable hearing tests, nearly 80% had hearing loss, usually slight to mild. Conductive loss, from fluid behind the eardrum, was most common in children aged 1 to 10, and loss from inner-ear (sensorineural) damage was most common from 11 on. Hearing could fluctuate and decline over time, and routine audiology checks are recommended (Brendal et al., 2017).
  • In a separate registry of 82 people, 66% had a history of ear infections and 62% had ear tubes placed (Brennan et al., 2024). Hearing loss can often be helped with hearing aids and other treatments (MedlinePlus).
  • Signs of an ear infection in a child who can’t say “my ear hurts” include ear tugging, crying more than usual, fluid draining from the ear and trouble sleeping (MedlinePlus).

Eyes

Everyone with SMS should see an ophthalmologist, with attention to crossed eyes (strabismus), small corneas, iris differences and refractive errors (Chen et al., 1996). Nearsightedness and other refractive problems may affect up to half of people. Retinal detachment may become more likely with age, possibly linked to severe nearsightedness or self-injury (Rinaldi et al.). Flashes, floaters or sudden vision change need immediate care (MedlinePlus).

Heart

Heart defects present at birth are reported in roughly a quarter to nearly half of people with SMS, and about 12% have rhythm or conduction problems (Rinaldi et al.). They are less likely with a RAI1 change than with the deletion (MedlinePlus Genetics). See the warning signs at the top of this page, and our Heart guide.

Kidneys and urinary tract

Kidney and urinary differences are reported in 14% to 35% of people and include a single or misplaced kidney, a blocked drainage tube and backward urine flow (vesicoureteral reflux) (Rinaldi et al.). Fever with back or side pain or burning urination can mean a urinary tract infection (MedlinePlus). Researchers also report that the common deletion includes a gene linked to Birt-Hogg-Dubé syndrome, which carries a higher kidney cancer risk. Cancer risk is not considered raised in SMS overall (Rinaldi et al.), but a 2023 report of four adults with both conditions suggested kidney cancer surveillance starting at age 20 (Vocke et al., 2023). Ask your genetics team whether this applies to you. See our Kidney guide.

Spine

Scoliosis and constipation are common (Rinaldi et al.). A girl with SMS developed a very severe, rigid curve despite bracing and needed surgery, so checks during growth matter (Tsirikos et al., 2010). Look for leaning to one side and uneven shoulders or hips (MedlinePlus). See our Scoliosis guide.

Seizures

Seizures are estimated at 11% to 30%, with more recent series ranging from 2% to 27.5%, and an additional 20% to 25% have brain wave changes without symptoms (Rinaldi et al.). Only 2% of the French group had epilepsy (Rive Le Gouard et al.). For a seizure lasting over 5 minutes, call 911 (MedlinePlus). See our Epilepsy guide.

Infections, weight and other checks

Antibody production is impaired in about 60% of people, which can lead to repeated airway infections. From age 9, about half of children are above the 95th percentile for weight, so growth should be tracked. Less common findings include an underactive thyroid, acid reflux and high cholesterol (Rinaldi et al.). Dental differences are also common (MedlinePlus Genetics).

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