Wrinkly skin syndrome is a rare genetic condition that mainly affects the skin and connective tissues from birth or early childhood. People with Wrinkly skin syndrome often have loose, wrinkled skin, and some also have growth differences, joint looseness, or delayed development. Early signs of Wrinkly skin syndrome are often noticed in infancy, but not everyone will have the same experience. Wrinkly skin syndrome is lifelong, and care usually focuses on regular follow-up, physical or developmental support, and treatment for specific problems if they arise. Life expectancy can vary with severity and related health issues, so doctors usually guide care based on the features each person has.
How many people live with Wrinkly skin syndrome?
Wrinkly skin syndrome is so rare that no reliable source gives a clear estimate for how many people are living with it worldwide or in the United States. Orphanet lists the prevalence as unknown (Orphanet, 2024), and no recent named U.S. registry or public health source appears to report a national estimate.
Overview
Wrinkly skin syndromeSymptoms
Wrinkly skin syndrome mainly affects the skin and connective tissues. Common features include loose, wrinkled skin, especially on the hands, feet, face, and belly, along with slow growth, joint looseness, and delayed development in some children.
Outlook and prognosis
Wrinkly skin syndrome usually affects quality of life more than life span. Many people with wrinkly skin syndrome need ongoing support for growth, movement, and development. Outlook varies, but skin wrinkling often becomes less noticeable with age.
Causes and risk factors
Wrinkly skin syndrome is caused by gene changes, usually in ATP6V0A2, and often starts before birth. Most cases are inherited when both parents pass on a nonworking copy. Lifestyle and environmental factors do not cause it, but can affect complications.
Genetic influences
Genetics are central to Wrinkly skin syndrome. It is usually caused by inherited changes in genes linked to connective tissue, most often passed down in an autosomal recessive pattern, meaning both parents usually carry one changed copy.
Diagnosis
Wrinkly skin syndrome is usually suspected from clinical features present in infancy or childhood, especially loose, wrinkled skin and typical growth or joint findings. The diagnosis of Wrinkly skin syndrome is confirmed with genetic tests. Imaging may help check related changes.
Treatment and drugs
Wrinkly skin syndrome treatment focuses on day-to-day support. Many living with Wrinkly skin syndrome benefit from physical therapy, skin care, and regular checks for joint looseness, growth, and developmental needs. Care is tailored as symptoms change.
Symptoms
Wrinkly skin syndrome usually becomes noticeable in infancy or early childhood through loose, folded skin and differences in growth, muscle tone, and joints. The early features of Wrinkly skin syndrome can include skin that looks deeply creased on the hands, feet, belly, or face, along with slower physical development. Features vary from person to person and can change over time. Many living with Wrinkly skin syndrome also have delays in movement, speech, or learning as they grow.
Loose, folded skin is the most noticeable sign and often shows up on the backs of the hands and feet, the belly, and the face. This can make the skin look much more creased or saggy than expected for a baby's or child's age.
Some children with Wrinkly skin syndrome are smaller than expected for age and may gain weight slowly. This can mean slower growth in height and weight and a need for close growth checks over time.
Muscles may feel less firm, so babies can seem floppy and older children may tire more quickly with sitting, climbing, or long walks. This often makes movement and posture harder to control.
Children with Wrinkly skin syndrome may reach motor or speech milestones later than other children. Some also have learning differences, so skills like walking, talking, or schoolwork can take more time.
How people usually first notice Wrinkly skin syndrome?
Wrinkly skin syndrome is usually first noticed in a newborn or infant when the skin looks loose, thin, and unusually wrinkled, especially on the backs of the hands and feet, the belly, or the face. The first signs of Wrinkly skin syndrome can also include slower growth, joints that seem unusually flexible, or a baby who feels more “floppy” than expected because of low muscle tone. In some families, doctors begin to suspect it early because of these visible features at birth or during early checkups, although the exact pattern can vary from one child to another.
Types of Wrinkly skin syndrome
No distinct types of Wrinkly skin syndrome are widely recognized.
Can I slow down the onset of symptoms?
No, there is no good evidence that lifestyle changes or medicine can meaningfully delay the start of symptoms in wrinkly skin syndrome, because it is a rare inherited condition that usually begins before birth or in early infancy. Research is very limited, and while healthy habits can support overall well-being, they have not been shown to prevent wrinkly skin syndrome or push back when it starts; there are also no established preventive medicines, though regular medical follow-up can help spot related problems early and treat them sooner. The most helpful step is early, ongoing care and support, which may improve day-to-day health even if it cannot change when symptoms begin.
What genetics can tell you about symptoms
Genetics can explain part of why wrinkly skin syndrome looks different from one person to another, even within the same family. Changes in a gene linked to the body’s connective tissues are known to cause the condition, and these genetic differences can influence which features show up, such as loose or wrinkled skin, growth concerns, joint looseness, or developmental differences, as well as how noticeable they are and sometimes when they first appear. Even so, genetics does not predict everything exactly, so two people with the same condition may still have different symptoms and different levels of severity.
Causes and risk factors
Most cases of wrinkly skin syndrome are caused by inherited changes in genes such as ATP6V0A2, and sometimes PYCR1, that affect connective tissue. It usually happens when a child inherits one nonworking copy from each parent, so family history and having two carrier parents are the main risk factors for wrinkly skin syndrome. Genetic testing can sometimes clarify your personal risk. Other biological factors, along with nutrition, general health, and environment, may influence how strongly features show up, but they do not cause the condition itself. This means the main causes of wrinkly skin syndrome are genetic, while lifestyle and environment mostly affect day to day impact rather than whether someone is born with it.
What are the most common causes or risk factors?
Wrinkly skin syndrome is mainly caused by inherited changes in a gene that helps the body build and maintain skin and other connective tissues, most often a gene called ATP6V0A2. The biggest risk factors are having a family history of the condition and being born to parents who both carry the same changed gene, which is more likely in families where the parents are related by blood. There are no well-known lifestyle or environmental causes.
Environmental and biological risk factors
When people look for risk factors for wrinkly skin syndrome, the key point is that no well-proven environmental or other body-based risk factors have been identified. Current medical knowledge suggests wrinkly skin syndrome starts very early in development and is not linked to common day-to-day exposures. Because the condition is very rare, research on additional risks is limited.
No environmental exposure has been clearly shown to increase the chance of wrinkly skin syndrome. Research is limited because the condition is very rare, but current evidence does not point to a proven outside trigger.
Genetic risk factors
Wrinkly skin syndrome usually happens because of inherited changes in a gene involved in how connective tissue forms and how cells handle important proteins. Some risk factors are inherited through our genes. In most families, the main genetic risk is that both parents carry a nonworking copy of the same gene, which raises the chance of a child having Wrinkly skin syndrome. Genetic testing can sometimes confirm the cause and help explain the genetic causes of Wrinkly skin syndrome in a family.
ATP6V0A2 gene: Changes in ATP6V0A2 are the best-known genetic cause of Wrinkly skin syndrome. This gene helps cells process and move proteins properly, and when it is not working well, skin and other connective tissues may not develop their usual stretch and support.
Recessive inheritance: Wrinkly skin syndrome is usually inherited in an autosomal recessive pattern, which means a child needs two nonworking copies of the gene. A child who inherits only one changed copy is usually a healthy carrier and does not develop the syndrome.
Carrier parents: Many parents of a child with Wrinkly skin syndrome have no symptoms because carriers often feel completely well. When both parents are carriers of changes in the same gene, each pregnancy has a 25% chance of the child having the condition.
Family history: A family history of Wrinkly skin syndrome or known carrier status can raise the chance that another child or relative is affected. This is especially important in siblings and close relatives, who may share the same genetic change.
Related parents: The risk can be higher when parents are biologically related, such as cousins, because they are more likely to carry the same rare gene change. This does not cause the condition by itself, but it can increase the chance that a child inherits two nonworking copies.
Lifestyle risk factors
Wrinkly skin syndrome is an inherited connective tissue disorder, so lifestyle habits do not cause it. Still, how lifestyle affects Wrinkly skin syndrome can matter for skin fragility, joint symptoms, mobility, and day-to-day comfort. The main lifestyle risk factors for Wrinkly skin syndrome are habits that increase mechanical stress on tissues or make skin and musculoskeletal problems harder to manage.
Frequent unprotected sun exposure can add to skin damage and may make already fragile, lax skin look and feel worse over time. Daily sun protection may help limit extra breakdown of the skin’s support structures.
Repeated rubbing from tight clothing, harsh scrubbing, adhesive products, or frequent minor trauma can irritate delicate skin and increase breakdown. Gentler skin care and reducing friction may help prevent sores, discomfort, and slow healing.
High-impact exercise, heavy lifting, or activities with repeated joint stress can worsen pain or instability in people who already have connective tissue weakness. Low-impact movement and supervised strengthening may support mobility while lowering injury risk.
Excess body weight can place more strain on lax connective tissues, joints, and the feet, which may worsen discomfort and fatigue with movement. Maintaining a comfortable weight may reduce mechanical stress and improve function.
Risk prevention
Wrinkly skin syndrome is a rare inherited condition, so there is no known way to prevent the syndrome itself if someone has the gene change. Prevention mainly means lowering the risk of complications and supporting skin, joints, growth, and overall health from an early age. Different people need different prevention strategies—there’s no single formula. For many living with wrinkly skin syndrome, this can mean regular follow-up and small daily habits that protect comfort and function.
Ongoing care with a pediatrician or genetics team can help spot growth, feeding, joint, or skin concerns early. This is often the best way to prevent small problems from becoming bigger ones in wrinkly skin syndrome.
Gentle skin care, avoiding harsh rubbing, and treating irritation early may help protect fragile or loose skin. Watching for sores, breakdown, or infection is especially helpful in body folds or places that get frequent friction.
Guided exercises and stretching can help support joint movement, muscle strength, and balance. For people with wrinkly skin syndrome, this may lower the risk of stiffness, falls, and day-to-day mobility problems.
Good nutrition and early help with feeding problems can support growth and energy needs. If early symptoms of wrinkly skin syndrome include poor weight gain or tiring during feeds, a dietitian or feeding specialist may help prevent further setbacks.
Can you prevent Wrinkly skin syndrome?
Because wrinkly skin syndrome is an inherited condition, there is no known way to prevent it in someone who is born with the gene change that causes it. If it runs in your family, talking with a genetics specialist before pregnancy can help you understand the chance of passing it on and learn about testing options. Healthy habits are still important for overall health, but they do not stop this condition from happening.
Transmission
Wrinkly skin syndrome is not infectious, so it cannot be passed from one person to another through touch, coughing, sex, blood, food, or everyday contact. Instead, how Wrinkly skin syndrome is inherited usually follows an autosomal recessive pattern, meaning a child receives two nonworking copies of the relevant gene, one from each parent.
Most parents are healthy carriers, so they do not have Wrinkly skin syndrome themselves. If both parents carry the same gene change, each pregnancy has a 25% chance of resulting in a child with Wrinkly skin syndrome, although the condition is very rare overall.
When to test your genes
Consider genetic testing when a baby or child has unusually loose, wrinkled skin along with growth delay, joint looseness, developmental differences, or a family history of a similar condition. Testing helps confirm wrinkly skin syndrome, clarify recurrence risk, and guide follow-up for growth, mobility, and related complications.
Diagnosis
Wrinkly skin syndrome is usually diagnosed in infancy or childhood, often when loose, wrinkled skin is seen along with growth, joint, or bone differences. Because it is rare, the diagnosis often starts with a careful physical exam and then is confirmed with more specific testing. Getting a diagnosis is often a turning point toward answers and support.
Doctors look closely at the pattern of loose, wrinkled skin, especially on the backs of the hands and feet, belly, and face. They also check for common associated findings such as slow growth, joint looseness or stiffness, and developmental differences.
A detailed family and health history can help show whether similar features have appeared in relatives. This matters because the genetic diagnosis of Wrinkly skin syndrome may be clearer when inheritance patterns are considered.
Genetic tests are used to look for disease-causing changes in genes linked to Wrinkly skin syndrome, most often ATP6V0A2. A positive result can confirm the diagnosis and may help with family counseling.
The exam often includes checking muscle tone, joint movement, spine shape, and body proportions, since some children have skeletal or movement-related features as well as skin changes. These clinical features help distinguish Wrinkly skin syndrome from other inherited connective tissue conditions.
How is Wrinkly skin syndrome diagnosed?
Doctors usually diagnose wrinkly skin syndrome by looking at the pattern of loose, wrinkled skin from early life and checking for other common features, such as slow growth, delayed development, and very flexible joints. They may also do other checks, such as bone, hip, spine, or eye exams, to look for related changes and rule out other conditions that can look similar. A blood test that looks for a related gene change can help confirm the diagnosis, especially because this condition overlaps with other rare disorders that also cause loose or wrinkled skin.
Stages of Wrinkly skin syndrome
Wrinkly skin syndrome does not have defined progression stages. This is because it is a genetic condition that is usually present from early life, and people with wrinkly skin syndrome tend to have a pattern of features rather than a step-by-step worsening course. Doctors usually start with a conversation about early symptoms of wrinkly skin syndrome, such as loose or wrinkled skin from infancy, along with growth, joint, and movement concerns, and then add a physical exam. Diagnosis is often supported by genetic testing, and follow-up focuses on monitoring skin, joints, growth, and development over time.
Outlook and prognosis
The outlook for people with wrinkly skin syndrome is variable but is often better than in the more severe forms of cutis laxa, with some children showing gradual improvement in the prominence of loose, wrinkled skin over time. Many affected individuals continue to have short stature, delayed motor development, joint laxity, and orthopedic or developmental challenges that may require ongoing supportive care. Intelligence can range from normal to mildly or moderately affected, and prognosis depends largely on the extent of connective tissue, musculoskeletal, and neurologic involvement. Published information is limited because the condition is very rare, but available reports suggest that life expectancy may be near normal in milder cases without major internal-organ complications. Mortality data are not well established specifically for wrinkly skin syndrome, and when serious outcomes occur they are usually related to complications seen within the broader cutis laxa spectrum rather than skin findings alone.
Long-term effects
Wrinkly skin syndrome mainly affects the skin and connective tissue throughout life, but its effects can reach beyond appearance. Many living with Wrinkly skin syndrome have loose, wrinkled skin from infancy, along with differences in growth, joints, and body structure that may continue over time. Long-term effects vary widely, and some features stay fairly stable while others become more noticeable with age. Understanding long-term patterns can guide treatment choices.
Loose, wrinkled skin often remains a long-term feature of Wrinkly skin syndrome, especially on the hands, feet, belly, and face. Some areas may look more folded or aged than expected, while the skin can also feel less elastic over time.
Many people with Wrinkly skin syndrome are smaller than average in childhood and may remain short in adulthood. Slow weight gain or a lean build can also be part of the long-term picture.
Joints may be unusually flexible early in life, which can affect posture, walking, and hand use over the years. In some people, loose joints later give way to discomfort or reduced stability rather than extra flexibility.
Long-term features can include hip problems, spine curvature, or chest wall differences that may affect movement and comfort. These changes may become more noticeable as a child grows and can shape orthopedic care over time.
How is it to live with Wrinkly skin syndrome?
Living with wrinkly skin syndrome can mean growing up with very loose, wrinkled skin and, for many, delays in strength, coordination, or growth that make everyday tasks more tiring and slower to master. Some people also have joint looseness, bone or hip problems, or feeding and developmental challenges, so daily life may involve physical therapy, medical appointments, and extra support at school or home. For families and other caregivers, this can bring practical demands and worry, but with steady care, rehabilitation, and accommodations, many living with wrinkly skin syndrome can build routines that support comfort, mobility, and participation in daily life.
Treatment and drugs
Wrinkly skin syndrome does not have a cure, so treatment focuses on the problems it causes in daily life, such as loose or wrinkled skin, joint laxity, movement difficulties, and growth or development concerns. Treatment plans often combine several approaches. Many people living with wrinkly skin syndrome benefit from regular follow-up with a team that may include a child doctor, skin specialist, physical therapist, and orthopedic specialist to help with strength, mobility, and joint support. If early symptoms of wrinkly skin syndrome include delays in sitting, walking, or feeding, therapy and nutrition support can help children build skills and grow as well as possible. Some may also need treatment for related issues such as hernias, hip problems, or eye concerns, and care is adjusted over time as needs change.
Can you cure Wrinkly skin syndrome?
No, there is currently no cure for wrinkly skin syndrome. Treatment focuses on helping with the problems it can cause, such as movement and joint trouble, growth or feeding issues, and developmental needs, with regular checkups and supportive therapies. These treatments can improve comfort and day-to-day function, but they do not make the condition go away.
Non-drug treatment
Daily care for Wrinkly skin syndrome usually focuses on comfort, movement, feeding, and development rather than a single specific therapy. Because Wrinkly skin syndrome can affect the skin, joints, growth, and sometimes learning or motor skills, care is usually tailored to the problems each person actually has. Supportive therapies can help many living with Wrinkly skin syndrome stay active, reduce strain on joints, and build everyday skills. Not every approach works the same way, so follow-up is often adjusted over time.
Physical therapy can help improve strength, balance, posture, and joint stability. For many, this can mean practicing safer walking, climbing stairs, or getting up from the floor with less strain.
Occupational therapy focuses on daily tasks such as dressing, bathing, writing, and using the hands comfortably. Splints, hand supports, or simple home adaptations may help if loose joints or weakness make these activities harder.
Speech and language therapy may help with communication, feeding skills, or oral muscle coordination when these are affected. In children, it can also support early development if speech is delayed.
Feeding support and dietitian care can be useful if weight gain is slow or eating takes a lot of effort. Some may find that small, frequent meals and texture changes make eating easier and safer.
Your genes may have an impact on how drugs work for you
For people living with wrinkly skin syndrome, treatment usually focuses on day-to-day problems like skin care, physical therapy, and watching for related health issues, rather than using one main medicine for the condition itself. Because of that, there is no well-established evidence that the gene change causing wrinkly skin syndrome routinely changes how common treatments work, although people can still respond differently to medicines for pain, stomach problems, or other separate symptoms. In everyday care, doctors usually choose medicines based on the person’s age, symptoms, and overall health, and then adjust if side effects or poor benefit show up.
Pharmacological treatments
Daily life with Wrinkly skin syndrome can involve a mix of skin, feeding, stomach, joint, and comfort issues, so treatment is usually built around the symptoms a person actually has. There is no medicine that corrects the underlying genetic change in Wrinkly skin syndrome, and the best treatment for Wrinkly skin syndrome often means combining supportive care with symptom relief. Drugs that target symptoms directly are called symptomatic treatments. Because this condition varies a lot, not everyone needs the same medicines.
Acetaminophen and ibuprofen may be used for aches, joint discomfort, or pain after procedures when a doctor feels they are appropriate. Dosing in children needs extra care and should be based on age, weight, and medical advice.
Some people with Wrinkly skin syndrome need treatment for acid reflux or frequent spit-up, especially in infancy or early childhood. Doctors may use medicines such as famotidine or proton pump inhibitors like omeprazole when feeding discomfort, poor weight gain, or esophageal irritation is a concern.
If slow bowels become a problem, medicines such as polyethylene glycol or lactulose may help soften stools and make bowel movements easier. This can matter when low muscle tone, limited mobility, or feeding issues contribute to constipation.
Dry, easily irritated skin may be managed with medicated creams when simple moisturizers are not enough. In some cases, a doctor may suggest a short course of low-strength hydrocortisone for inflamed areas or prescribe an antibiotic cream if skin becomes infected.
Genetic influences
For many living with wrinkly skin syndrome, the loose, folded skin noticed early in life is usually tied to inherited changes in genes that help connective tissue form and stay resilient. The condition is most often linked to changes in a gene called ATP6V0A2, although changes in other genes have also been reported in some families. It is usually passed down in an autosomal recessive pattern, meaning a child inherits a nonworking copy of the gene from each parent. A carrier means you hold the gene change but may not show symptoms. That helps explain why the genetic cause of wrinkly skin syndrome can seem to appear unexpectedly, even when parents are healthy, and why features can vary from one family member to another. Genetic testing can help confirm the diagnosis and give families clearer information about the chance of having another child with wrinkly skin syndrome.
Is Wrinkly skin syndrome genetic?
Genetics are central to Wrinkly skin syndrome. It is usually caused by inherited changes in genes linked to connective tissue, most often passed down in an autosomal recessive pattern, meaning both parents usually carry one changed copy.
Having a genetic risk is not necessarily a diagnosis
Genetic variants are common and are a normal feature of human biology. Most do not directly affect health and simply contribute to the natural differences seen among people. For many genes, having a variant associated with a condition suggests a possible link rather than a certain diagnosis, especially when several genes and environmental factors are involved. In some situations, though, a single well-understood variant in a particular gene is enough to confirm the diagnosis.
Pharmacogenetics—how genetics influence drug effects
For many living with Wrinkly skin syndrome, treatment is aimed at day-to-day problems such as loose or wrinkled skin, joint concerns, growth issues, or developmental support, rather than at a single medicine that changes the condition itself. The gene change behind Wrinkly skin syndrome can help confirm the diagnosis and guide follow-up care, but there is currently no well-established gene-targeted drug for it. Genetics is only one factor, but in this condition the genetic result may help doctors look more closely for related concerns and choose supportive treatments, therapy, and monitoring that fit your needs. In other words, genetic testing is usually more helpful for planning treatment for Wrinkly skin syndrome than for predicting a specific response to a certain medication. If medicines are used for symptoms or for other health conditions, doctors generally base those choices on age, overall health, and side effects, because clear pharmacogenetic rules for Wrinkly skin syndrome have not been established.
Interactions with other conditions
Wrinkly skin syndrome can affect more than the skin, so day-to-day care often includes watching for other health problems that may add to the strain on joints, growth, or development. In many living with Wrinkly skin syndrome, the biggest overlap is with other connective tissue conditions, especially ones that also cause loose skin, joint laxity, hernias, or delayed motor milestones, which can make the diagnosis less straightforward at first. Some may also have feeding difficulties, poor weight gain, or hip and spine problems, and these issues can make mobility and everyday comfort harder. Interactions can look very different from person to person. Because Wrinkly skin syndrome is rare, care is usually centered on the specific problems someone has rather than on one fixed pattern, and doctors may involve genetics, orthopedics, physical therapy, and other specialists if early symptoms of Wrinkly skin syndrome overlap with other conditions.
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.
What other conditions can cause similar symptoms to Wrinkly skin syndrome?
Wrinkly skin syndrome can look a lot like other rare conditions that cause loose, wrinkled skin, slow growth, and very flexible joints. The main look-alikes are cutis laxa, which causes skin to hang loosely, geroderma osteodysplasticum, which can also cause loose skin and bone problems, and some types of Ehlers-Danlos syndrome, which can make skin stretchy and joints unusually bendy.
History
For many living with wrinkly skin syndrome, the most noticeable sign is there from early life: skin that looks loose, thin, or finely wrinkled, especially on the backs of the hands and feet, the belly, or the face. Families may first have described it in simple terms, such as a baby whose skin seemed older than expected, long before medicine had a clear name for the pattern.
As medical science evolved, doctors began publishing reports of children with this unusual skin appearance along with other features such as slow growth, loose joints, or differences in facial features. Early descriptions did not always separate wrinkly skin syndrome clearly from other rare conditions that also affect the body’s elastic tissue, so the boundaries between these diagnoses were often blurry. Some children who would now be recognized as having wrinkly skin syndrome may originally have been grouped under broader labels.
Over time, careful follow-up helped doctors see that wrinkly skin syndrome had its own recognizable pattern, even though it can vary from one person to another. In some people, the wrinkling is most obvious in infancy and early childhood and may become less striking with age, while other health concerns can remain important. That growing understanding mattered in everyday life, because it helped families know that the skin changes were part of a wider medical condition rather than an isolated cosmetic issue.
Later research showed that wrinkly skin syndrome is linked to changes in genes involved in connective tissue, the material that helps support skin, joints, and other parts of the body. This was an important shift in the history of the condition: doctors moved from describing what they could see to understanding more about why it happens. Even so, diagnosis still depends a lot on the overall clinical picture, since rare connective tissue conditions can overlap.
Today, wrinkly skin syndrome is still considered very rare, and much of what doctors know comes from detailed case reports and small patient groups rather than large studies. Awareness has improved, which means more families may get an explanation earlier when early symptoms of wrinkly skin syndrome are noticed. Knowing this history also helps explain why older medical records may use different names or place the condition in a slightly different category than doctors use now.