Ehlers-Danlos syndrome is a collection of hereditary diseases that damage the body’s connective tissues. These tissues include those that line the joints, the skin, and blood vessels.
Ehlers-Danlos syndrome can manifest itself in several ways. One in every 5,000 toddlers in the world may be affected by these factors taken together. Some types of the condition (EDS), on the other hand, are infrequent and only afflict a small number of toddlers throughout the world.
The connective tissues of the body are affected by Ehlers-Danlos syndrome. Strength and elasticity are provided by the connective tissues, which are proteins and other chemicals.
They offer support to tissues all across the body, including the following:
- vessels of blood
Toddlers who suffer from Ehlers-Danlos syndrome frequently have abnormalities in the composition of these connective tissues, resulting in difficulties such as loose joints (joint hypermobility) and delicate, elastic, and soft (skin hyperextensibility).
General Signs and Symptoms of all EDS Types in Toddlers
Before reaching their adolescent years, children may not show any signs or symptoms at all. Also, a virus or other trauma might set off the symptoms of depression. Symptoms in many children and adolescents are so minor that they go unrecognized, while others may be seriously impacted.
Symptoms of pediatric EDS may manifest at birth or shortly afterward. These symptoms include abnormal scarring, autonomic nervous system issues, cardiovascular problems, early-onset osteoarthritis, elastic or stretchy skin that bruises easily, extra folds of skin, gastrointestinal issues, internal bleeding (including organ rupture), osteoporosis (including bleeding), and velvety skin (which is sometimes present).
Dislocations are possible in children who suffer from neck discomfort, “clicking,” or unstable joints prone to dislocating. They may also have bladder difficulties, tire quickly, have poor focus, and a propensity to fidget, and other characteristics. In comparison to other children, their injuries may take longer to heal.
Toddlers with Ehlers-Danlos syndrome may experience various symptoms, which vary based on the kind of the disorder.
The following are the symptoms of Ehlers-Danlos syndrome, which cause joints to become:
- A joint is hypermobile if it moves beyond the typical range of motion for that joint.
Dislocated joints and osteoarthritis are common complications of these symptoms.
Skin Problems in Toddlers
When these diseases are present, toddler’s skin may be affected by the following symptoms:
- silky and supple
- takes a long time to recover from injury
- too supple
There are a variety of problems that might arise as a result of these skin signs.
- bruising or tearing on a significant scale
- a significant amount of scar tissue
- Inflammatory wounds that take a long time to heal
- Molluscoid pseudotumors, which are tiny, fleshy lesions that grow on the skin’s surface.
Additional symptoms of Ehlers-Danlos syndrome in toddlers include the following:
- Musculoskeletal discomfort that persists for an extended period.
- The abnormal curvature of the spine is called scoliosis.
- Arms and legs that are bent or curved
- Breathing difficulties
- The muscular tone that is deficient
- Infection of the gums and tooth decay
- A cardiac ailment is known as mitral valve prolapse
- Difficulties with vision
There are several severe symptoms associated with the vascular form of Ehlers-Danlos syndromes, such as ruptured walls of blood arteries, the uterus, or the intestines.
Severe problems, particularly during pregnancy, might arise as a result of this injury. If the bigger blood vessels break, the consequences might be deadly.
EDS Types in Toddlers
Ehlers-Danlos syndrome is divided into 13 subgroups (EDS). Although the clinical criteria that distinguish each subtype are distinct, there may be some overlap in their clinical characteristics.
The hypermobile and classical kinds are the two most frequent. Others are far more difficult to get by and are much rarer.
Among the kinds are the following 13:
Hypermobile EDS (hEDS)
In the world, one in every 5,000 to 20,000 children has hypermobile EDS (hEDS), which is the most prevalent form.
Due to the lack of a genetic test for hEDS, a clinician will diagnose the condition based on a person’s symptoms.
The effects of this medication include skin and musculoskeletal problems, exhaustion, mood swings, and digestive difficulties.
The diagnosis of hypermobile EDS (hEDS) is still based on clinical examination; because no molecular or genetic cause has been found, there is now no test available for virtually all people who have hEDS.
There is a clinical continuum spanning from asymptomatic joint hypermobility to “non-syndromic” joint hypermobility with secondary symptoms to hEDS and everything in between.
An hEDS diagnosis should be given only to people who satisfy all of the criteria, which will aid in the discovery of the underlying genetic cause(s) of the condition, which may then be used to improve clinical care. Because this is a clinical diagnosis, it is critical to be reasonably certain that the diagnosis is not one of the numerous different connective tissue illnesses that might occur. The autosomal dominant mode of inheritance is observed in hypermobile EDS.
Also, a wide range of diseases can occur in conjunction with hEDS; however, there is not enough evidence to establish them as diagnostic criteria. Even though they are linked with hEDS, they have not been shown to be the consequence of hEDS and are not precise enough to be used as diagnostic criteria. Sleep disturbances, tiredness, postural orthostatic tachycardia, functional gastrointestinal problems, dysautonomia, anxiety, and depression are just a few of the symptoms that might occur. These disorders, which may be more severe than joint problems and frequently interfere with everyday activities, should be evaluated and treated as well.
According to current estimations, one in every 20,000 to 40,000 children is believed to be affected by the classical type of EDS (cEDS).
Individuals with classical EDS also experience joint issues; however, their skin symptoms are more severe than those who have the hypermobile form of this condition. Blood vessels might become more vulnerable as a result of this.
The following are the most important criteria to distinguish cEDS in toddlers:
- Skin hyperextensibility, as well as atrophic scarring, are also present.
- Hypermobility of the joints throughout the body (GJH).
The other nine minor conditions must be met. The first significant criterion, plus the second primary criterion or at least three minor criteria, constitutes the bare minimum clinical standards for cEDS. The second major criterion, plus the third primary criterion or at least three minor criteria, includes the basic minimum clinical standards for cEDS.
Molecular testing is required to validate a final diagnosis before it can be made. More than 90% of people suffering from cEDS have a heterozygous mutation in one of the genes producing type V collagen, according to the National Institutes of Health (COL5A1 and COL5A2). Specific mutations in the genes encoding type I collagen has been shown to be linked with the features of cEDS on a rare occasion. The autosomal dominant inheritance pattern is observed in classical EDS.
Hyperextensible skin may be distinguished by the fact that it can be extended over a specified cut off in the following areas: For the distal portion of the forearms and the dorsum of the hands, 1.5 cm; 3 cm for the neck, elbows, and knees; and 1 cm for the volar surface of the hand (palm).
The degree of abnormal scarring might vary widely. The majority of people who have cEDS have significant atrophic scars at several different locations. A small number of people are just moderately impacted. Individuals with classical EDS should proceed with care when considering the significance of surgical scars; if adequately treated, surgical scars can seem normal in these patients. The presence of atrophic surgical scars in the general population can be attributed to mechanical factors and the location of the incision.
It is determined whether a person has generalized joint hypermobility by using his or her Beighton score; a Beighton score more than 5 indicates the existence of generalized joint hypermobility. Patient’s with a Beighton score of 5/9 or less may be deemed positive based on their previous observations because joint hypermobility reduces with age.
VEDS is a rare type of EDS that affects the blood vessels as well as internal organs, including the colon and the uterus. Aside from life-threatening bleeding, there are complications associated with pregnancy.
The following are the most essential criteria of distinguishing vEDS in toddlers:
- A family history of vEDS with a known causal variation in the COL3A1 gene was discovered.
- Acute aortic dissection in a young age
- In the absence of established diverticular disease or other intestinal diseases, spontaneous sigmoid colon perforation can occur.
- In the absence of a prior C-section and significant peripartum perineum tears, uterine rupture during the third trimester is considered to be expected.
- In the absence of trauma, the development of a carotid-cavernous sinus fistula (CCSF) can occur.
The following are the bare minimum clinical requirements that should prompt vEDS diagnostic studies: a family history of the condition; arterial rupture or dissection in people less than 40 years of age; unexplained sigmoid colon rupture; or spontaneous pneumothorax in the context of other characteristics compatible with vEDS. The existence of a combination of the other “minor” factors should compel consideration of testing for vEDS, as described above.
Molecular testing is required to validate a final diagnosis before it can be made. Patients with vEDS generally have a heterozygous mutation in the COL3A1 gene, with the rare exception of specific heterozygous arginine-to-cysteine substitution mutations in the COL1A1 gene similarly linked with vascular fragility and mirror COL3A1-vEDS in their symptoms and appearance. Biallelic pathogenic mutations in the COL3A1 gene have been discovered in scarce situations.
Classical-like EDS (clEDS):
Classical-like EDS (due to tenascin-X (TNX) deficiency) is a type of Ehlers Danlos Syndrome (EDS) characterized by an abnormally wide range of joint movement (hypermobility) soft, elastic, and delicate skin, and susceptibility to bruising. In addition to muscular weakness and wasting (atrophy), protrusion of a portion of the stomach through the diaphragm and into the chest cavity are possible indications and symptoms of this condition (hiatal hernia).
Classical-like EDS is caused by point mutations in both copies of the TNXB gene and is transmitted in an autosomal recessive way; however, some persons with a mutation in only one copy of the TNXB gene might exhibit symptoms that are similar to EDS hypermobility types, such as joint hypermobility and soft skin. Individuals with this type of skin are not prone to bruising or having flexible skin.
Larger deletions of genetic material, including additional genes, can be found in some patients with classical-like EDS, although this is rare. It is possible that these folks will have extra symptoms. For example, deletions of the TNXB gene and the CYP21A2 gene have been seen in some cases. Mutations in this gene are related to congenital adrenal hyperplasia (CAH), a set of hereditary disorders that affect the glands that sit on top of the kidneys and cause them to grow abnormally (adrenal glands).
Cardiac-valvular EDS (cvEDS)
Cardiac-valvular Ehlers-Danlos syndrome (cvEDS), an uncommon form of the illness, is defined by issues with the heart valves that occur in conjunction with the more often observed disease symptoms of stretched skin and excessively flexible joints.
Ehlers-Danlos syndrome (EDS) is a severe connective tissue disorder that affects the connective tissue that supports the skin, joints, blood vessels, and organs, including the heart, among other structures. The connective tissue is largely composed of collagen, a protein that gives these tissues their shape and strength. It is possible to have more than 15 different kinds of collagen, with type 1 collagen being one of the most prevalent forms in the body. Type 1 collagen is composed of two pro-1(1) and one pro-2(1) chain, which are made up of amino acids. Type 2 collagen is formed of two pro-1(1) and one pro-2(1) chains (the building blocks of proteins).
In people with cvEDS, a mutation in the COL1A2 gene, which encodes the protein pro-2, results in the disease (1). cvEDS is caused by mutations in the pro-2(I) gene, which causes the generation of faulty pro-2(I), which interferes with the proper assembly, structure, and function of type 1 collagen. This results in weaker connective tissues as well as the symptoms associated with the condition.
The COL1A2 gene is found on chromosome 7, which is an autosome or a chromosome that is not responsible for determining a person’s gender. Every gene is found on autosomes in two copies, one from each parent, resulting in two copies of each gene.
Autosomal recessive inheritance is the mode of inheritance for cvEDS-causing mutations, which implies that both copies of the COL1A2 gene must be altered in order for the illness to manifest itself. This can occur when both parents have a genetic deficiency in the COL1A2 gene and are, therefore, “carriers” of the disease, as is the case in some instances. They have a 25% probability of passing on cvEDS to their children if they do not act quickly.
The symptoms of different kinds of EDS are intertwined with one another. Some cvEDS patients report the following symptoms:
- Gradual deterioration of the heart valves
- Hypertension (high blood pressure) or vascular disease
- Fine, delicate skin that bruises readily.
- Increased mobility of the joints, resulting in repeated dislocations or fractures, difficulties walking, and a weak grip
- Scoliosis, which is a lateral curvature of the spine that is unnatural.
A healthcare team may suspect cvEDS based on a thorough evaluation of the patient’s symptoms, physical examination, family medical history, and clinical findings, among other factors.
Echocardiography (also known as a heart ultrasound) can be used to diagnose cardiac problems. Because the symptoms of cvEDS are similar to those of other EDS types, a skin biopsy, and genetic testing must be performed in order to confirm the diagnosis.
Clinically validated EDS (cvEDS) therapies are comparable to those used for other EDS forms, focusing on symptom control.
Patients can benefit from physiotherapy by gaining muscular strength, improving their gait, and correcting their posture. Exercises should only be carried out in collaboration with an appropriately certified physical or occupational therapist.
Surgery may be necessary for extreme situations to straighten scoliosis or to repair joint issues. Cardiac surgery may potentially be an option for people with congenital heart valve disease to improve their heart valve defect.
Arthrochalasia EDS (aEDS)
As a form of EDS, arthrochalasia Ehlers-Danlos syndrome (aEDS) is distinguished by a high frequency of hip dislocations in addition to the more typical EDS-associated symptoms of hypermobile joints. When it comes to this type of disease, skin-related symptoms are rare.
AEDS is also known by other names, such as arthrochalasis multiplex congenita and Ehlers-Danlos syndrome type 7A.
It is believed that EDS is caused by inadequate amounts or incorrect functioning of collagen, which is the major structural component of connective tissue. There are several different kinds of collagen. Kind 1 collagen is the most prevalent type of collagen found in the body.
Several distinct sorts of mutations alter collagen in different ways and are responsible for the 13 other forms of EDS. It is believed that EDS is caused by mutations in either the COL1A1 or COL1A2 genes. These genes encode instructions for constructing the amino acid chains that make up type 1 collagen. These alterations alter the standard structure of collagen, impairing its ability to perform its job. This results in the deterioration of type 1 collagen-rich tissues, particularly the connective tissues, which leads to the manifestation of the symptoms of aEDS.
Gender is not determined by the location of any of the COL1A1 or COL1A2 genes on chromosomes 1 and 2. (also known as autosomes). In humans, the COL1A1 gene is found on chromosome 17, while the COL1A2 gene is located on chromosome 7.
Every gene on the autosomes has two copies, one from each parent, and each gene is present in two copies on the autosomes. It is important to note that aEDS is inherited in an autosomal dominant way, which means that only one copy of the gene has to be mutated in order for the illness to manifest itself. There is a 50 percent probability that a person with EDS may pass the condition on to their kid or children.
In certain circumstances, aEDS-causing mutations can develop in an individual even if neither of their parents carries the genetic mutation that causes the condition.
The intensity and frequency of aEDS symptoms vary from patient to patient. Among the symptoms that have been documented are:
- Dislocation of the hip at birth
- excessively flexible joints
- a lack of muscular tone
- a lack of bone density
- a twisted spine
- In rare cases, skin that is brittle and elastic can develop.
A clinician may suspect aEDS in that patient based on a patient’s symptoms, family medical history, and physical examination.
The substantial overlap in symptoms across the various forms of EDS, skin biopsy, and genetic testing may be advised to confirm the diagnosis of aEDS.
Treatments for aEDS are primarily geared toward relieving symptoms and avoiding future problems from occurring. The use of assistive devices and physiotherapy in conjunction with professional physical and occupational therapists may be advised to enhance mobility and joint stability in people with disabilities.
In extreme hip dislocation and curved spine cases, surgical intervention may be necessary to rectify the problem and restore the patient’s mobility.
Dermatosparaxis EDS (dEDS)
While the symptoms of the various kinds of EDS sometimes overlap, dermatosparaxis EDS (dEDS) is primarily characterized by soft, doughy skin that is highly fragile, as well as hernias and joint hypermobility (when joints can move farther than they should).
EDS is exceedingly uncommon, with just a handful of instances having been described in the scientific literature to date.
DEDS is caused by several point mutations in a gene called ADAMTS2, which encodes for an enzyme involved in collagen production, a structural protein essential for the body’s structure. The ADAMTS2 enzyme is responsible for maturing immature collagen proteins into their functional form, a strong, thin fiber that imparts elasticity to tissues.
COLLAGEN is a critical component of connective tissue, which is responsible for giving form to muscles and joints as well as holding organs together and providing structure to the skin. The condition is caused by an incorrect formation of connective tissue, which results in the symptoms of the sickness.
The majority of cases of dEDS are inherited, although the patients’ parents may not have displayed any signs or symptoms of the condition. There are also highly uncommon instances in which the disease might emerge due to a new genetic mutation.
Humans have two copies of most genes in their bodies, one inherited from each parent and the other from their mother. Disease-causing mutations in the ADAMTS2 gene are passed on in an autosomal recessive fashion, which means that patients must have an illness-causing mutation in both copies of the ADAMTS2 gene to acquire the disease – one from their mother and one from their father. Because each parent had just one copy of the illness-causing mutation and one healthy copy of the gene, likely, the parents never experienced any disease symptoms themselves.
As a result, if both parents are carriers (that is, each parent has one copy of the disease-causing mutation), their offspring have a one-in-four chance of receiving two copies of the disease-causing gene mutation and having dEDS, and a one-in-two chance of inheriting only one copy of the disease-causing gene mutation and becoming carriers in the same way that their parents were.
People who have dEDS have skin that is soft and doughy and is extremely fragile. Excess loose skin on the face, especially around the eyes, causes folds to form in many individuals, giving them a distinctive look. In addition to bruising easily, they are more prone to developing hernias, which are conditions in which the intestines protrude through the abdominal muscle in the stomach or groin.
Additionally, individuals with dEDS suffer from joint hypermobility, which means their joints may flex more than usual, resulting in frequent dislocations. These dislocations may necessitate surgical intervention in order to restore the joint’s function. Patients with dEDS frequently have anomalies in the form and angle of their hip joints, which makes those joints more prone to dislocating than average.
A physical examination is used to diagnose dEDS, which includes a joint mobility test known as the Beighton scoring system, which measures joint mobility. During the test, the angle to which patients can bend their joints without experiencing discomfort is calculated for each joint in the body, including the fingers, thumbs, elbows, knees, and spine. The patient is given a score for each joint that may be bent more than usual, and the total score is used to determine whether or not the patient has hypermobility.
A physician can order a genetic test to confirm a diagnosis of dEDS. A tiny blood sample is collected from the patient and submitted to a laboratory to check for mutations in the ADAMTS2 gene. If a mutation is found, the patient’s diagnosis is confirmed. The results of the test are typically available within four to six weeks. After that, the doctor meets with the patient to review the results and determine whether more testing is required.
Because there is presently no treatment for dEDS, patient management is focused on alleviating the condition’s symptoms.
Patients can benefit from physical treatment in order to strengthen their muscles and minimize the frequency of joint dislocations. If a person has dEDS and has issues such as hernias or dislocated joints, surgery may be required to fix the condition.
Other Less Common EDS Types in Toddlers
Kyphoscoliotic EDS (kEDS)
The following are the essential criteria in distinguishing kEDS in toddlers:
- Hypotonia congenita (muscle weakness from birth)
- Kyphoscoliosis (progressive or non-progressive) is congenital or develops early in life.
- Dislocations and subluxations in the GJH (shoulders, hips, and knees in particular).
Additionally, there are gene-specific minor criteria in addition to the other eleven (four for PLOD1 and four for FKBP14). The primary criteria 1 and 2 (congenital muscular hypotonia and congenital/early-onset kyphoscoliosis) with either primary criterion 3 or three minor criteria are considered to be the minimal criteria for kEDS.
Testing is required to validate a definitive diagnosis before it can be made. Patients with kEDS are more often than not to have biallelic mutations in the PLOD1 gene; biallelic mutations in FKBP14 have recently been discovered in individuals who show symptoms similar to but not similar identical to those seen in patients with kEDS-PLOD1. Initially, a urine test employing high-performance liquid chromatography should be performed (to analyze the ratio of lysyl-pyridinoline to hydroxylysyl-pyridinoline crosslinks; an average ratio is less than 0.20, the kEDS-PLOD1 range is 2 to 9). Using this approach, a variation of unclear importance can be determined to be pathogenic, which is both quick and cost-effective. It can also be used to identify the pathogenic status of a variant of questionable significance. If the urine test results are expected, a Molecular Analysis can be performed. The absence of an abnormal urinary LP/HP ratio excludes the diagnosis of kEDS-PLOD1, whereas the absence of affirmative genetic findings does not rule out kEDS because other genes that have not yet been discovered may be associated with this phenotype; alternative diagnoses should be considered in the absence of PLOD1 or FKBP14 mutations. Kyphoscoliotic EDS is inherited autosomal recessive, which means it is passed down via the family.
Brittle cornea syndrome (BCS)
The following are the most critical criteria in distinguishing BCS in toddlers:
- The cornea is thin, with or without rupture (the central corneal thickness is frequently less than 400 microns)
- Keratoconus with increasing onset at an early age
- Blue sclerae.
- Progressive keratoglobus with early-onset
A final diagnosis must be confirmed by molecular testing before it can be considered definitive. Biallelic mutations cause BCS in either ZNF469 or PRDM5, which are found in both parents. The absence of mutations in these genes was found in at least one family with a clinical BCS phenotype, indicating that at least one additional gene may be related to BCS. Brittle cornea syndrome is passed down via families in an autosomal recessive fashion.
Spondylodysplastic EDS (spEDS)
The following are the essential criteria in distinguishing spEDS in toddlers:
- Short stature (which progresses during childhood)
- The bending of limbs.
- The presence of muscle hypotonia (which can range from severe congenital to moderate later-onset);
There are five general minor criteria and gene-specific criteria for B4GALT7, B3GALT6, and SLC39A13, in addition to the general minor criteria. The first and second main criteria, as well as distinctive radiographic abnormalities and at least three minor criteria, are the bare minimum necessary to indicate a diagnosis of spEDS (either general or gene-specific). The autosomal recessive mode of inheritance is observed in spondylodysplastic EDS.
Musculocontractile EDS (mcEDS)
The following are the most critical criteria in distinguishing mcEDS in toddlers:
- Congenital multiple contractures, with adduction-flexion contractures being the most common and talipes equinovarus (clubfoot) being the most common
- Identifying craniofacial characteristics that are visible at birth or in early infancy
- Dermatological characteristics include hyperextensibility, bruisability, skin fragility with atrophic scars, and enhanced palmar wrinkling, in addition to other signs and symptoms.
There is a total of fifteen minor requirements that must be met. Primary criteria 1 and 2 must be completed at the time of birth or early childhood; significant criteria 1 and 3 must be met at the time of adolescence or adulthood, and minor criteria 1 and 3 must be met at the time of death.
A final diagnosis must be confirmed by molecular testing before it can be considered definitive. Biallelic mutations in the CHST14 gene are the cause of musculocontractural EDS. A few mutations in the DSE gene have been found in individuals who have a phenotype that is comparable to that of the DSE gene. MCS is inherited in an autosomal recessive manner, which means that it affects the muscles.
Myopathic EDS (mEDS)
The following are the essential criteria in distinguishing mEDS in toddlers:
- Hypotonia and muscular atrophy that develops in childhood become less severe as the child grows older.
- Proximal joint contractures are a kind of joint contracture that occurs close to the joint (knee, hip, and elbow)
- Excessive mobility of the distal joints.
There are a total of four minor conditions that must be met. mEDS can be diagnosed based on the presence of only one additional primary criterion or three minor criteria, with the first significant criterion plus one other primary criterion or three minor criteria serving as the bare minimum.
In order to make a definitive diagnosis, molecular testing must be performed; mEDS is caused by heterozygous or biallelic mutations in the COL12A1 gene, and the clinical presentation is strikingly similar to that of collagen type VI-related myopathies. It is presently unknown whether this trait is caused by any other genes that have not yet been found or discovered. Alternate diagnoses, mainly collagen VI-related Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy, should be explored in the event that no COL12A1 mutations are found to exist.
Periodontal EDS (pEDS)
The following are the most critical criteria in distinguishing pEDS in toddlers:
- Early-onset severe and persistent periodontitis (infancy or adolescence).
- Insufficiency of connected gingiva
- Pretibial plaques
- The family history of a first-degree relative who fits the clinical criteria.
There are a total of eight minor conditions that must be met. The first or second requirement and at least two other significant criteria and one minor criterion are the bare minima of criteria necessary to recommend pEDS.
In order to make a definitive diagnosis, molecular testing must be performed; heterozygous gain-of-function mutations cause pEDS in the C1R or C1S genes. Because of the limited experience with molecular diagnostics, it is impossible to say at this time whether the lack of a C1R or C1S mutation precludes the diagnosis. Autosomal dominant inheritance is the mode of inheritance for periodontal EDS (pEDS).
Fact: Some EDS types are challenging to come by. According to recent research, there are only 12 children with dermatosparaxis EDS, and they suspect that there are only 30 children with arthrochalasia EDS.
General Causes of EDS in Toddlers
It is important to note that Ehlers-Danlos syndrome is a genetic condition, which means that one or more genetic defects cause it.
Someone can be born with Ehlers-Danlos syndrome due to mutations in at least 19 genes.
Some kinds of Ehlers-Danlos syndrome are hereditary, which means that a parent may pass on the faulty gene to a kid. The type of Ehlers-Danlos syndrome that the child has will be the same as that of his or her parents.
The probability of an afflicted parent passing on the genetic mutation to their kid is either 25 percent or 50 percent, depending on whether the mutation is inherited by dominant or recessive gene inheritance. The inheritance patterns of the EDS subgroups are distinct.
If the defective gene does not originate from either of the parents, this is known as a congenital disorder. Genetic mutations in the egg or sperm that are not passed down from parent to child are one possible cause.
Collective Diagnosis of EDS in Toddlers
EDS specialist will conduct a physical examination and a medical history of the patient and his or her family members to diagnose Ehlers-Danlos syndrome in toddlers.
Having the typical skin and joint symptoms, as well as having a family history of the condition, is generally sufficient for a clinician to make a diagnosis of the disorder. Genetic testing can be used to assist in confirming a diagnosis in specific situations.
Although some children have Ehlers-Danlos syndrome, they can experience a few symptoms. A frequent condition such as joint hypermobility, which affects about one in every thirty children, is joint hypermobility.
Anyone who has questions about whether they have Ehlers-Danlos syndrome should immediately consult with a medical professional.
Helping your child to Cope with any type of EDS
It may be challenging to satisfy your child’s needs without making them feel “different.” Maintaining as much normalcy in your child’s life is critical.
Rehabilitation techniques, such as physical therapy and mechanical therapy
Some children could benefit from physical treatment. It consists of exercises for strengthening and stretching, as well as for coordination and balance. To address lower limb discomfort in children with hypermobility, physiotherapists may recommend splints or orthoses.
Typically, physical therapy is required to assist people in managing their joint problems and reducing the likelihood of dislocations.
This disease necessitates the use of a physical therapist who is conversant with the patient’s symptoms. As an alternative to exercises, the therapist may suggest braces or splints support weak joints.
Joint, muscle, and nerve pain are common symptoms of Ehlers-Danlos syndrome, lasting for months or years. It can result in stomach discomfort and headaches if taken in large quantities.
For many patients suffering from Ehlers-Danlos syndrome, medication can be a critical component of their pain-management plan.
People can control their pain daily using over-the-counter pain relievers such as acetaminophen (Tylenol) or ibuprofen (Advil) (Advil, Motrin). Analgesics prescribed by a doctor may be necessary for acute injuries.
For further symptoms, a doctor may prescribe different medicines. Examples include the requirement for blood pressure-lowering medication to minimize the risk of blood vessel rupture in patients with vEDS.
In some instances, children with EDS may experience oral issues similar to those experienced by adult patients. These concerns may include tooth discomfort, painful tooth extractions, and gum disease. Avoiding sugary foods and beverages, brushing their teeth, and visiting the dentist regularly are excellent dental hygiene tips for youngsters.
To minimize the syndrome’s impact on a child’s education and schooling, modifications are likely to be required for them.
In collaboration with your kid’s school administration, you should develop an individualized education program (IEP) for your child. This document outlines the resources and services your kid will require, as well as the accommodations that the school will provide.
Informing school workers of the possibility of a medical emergency, such as a dislocated joint, is recommended. Establish clear guidelines for them on how to respond in such a scenario.
Coping with Negative Emotions
Given that EDS is hereditary, you may feel guilty for passing the condition along with your kid. When it comes to the situation, you may be concerned about if your kid may develop negative sentiments against you. Maintaining your composure is critical. You committed no errors. You can get through tough times by maintaining a strong support network.