Are You Born With EDS?


EDS is a genetic condition present from birth, although symptoms may not exhibit themselves until a later age. It is relatively unusual for a hereditary ailment to manifest itself for the first time during puberty; on the other hand, symptoms might be triggered by a traumatic event, such as a virus, years after the onset of the problem. Many youngsters with EDS have mild symptoms, which means that their condition may go unrecognized. Children can be particularly vulnerable in some cases.

EDS patients will be more “bendy” than their peers, and this hypermobility might result in issues for the children who have it. Instability of the joints may result in dislocations or subluxations (partial dislocations).

Children may experience pain, their joints may click, and they may fidget to alleviate their distressing situation. On the other hand, EDS is more than simply a clinical hypermobility disorder; it can also impact a wide range of bodily activities. A youngster is more likely to sustain injuries, suffer from quick bruising, and have skin tears even after little stress, with injuries taking longer to heal than typical. They may also have concerns with their stamina, digestion, or bladder function. During school, kids may have difficulty writing or sitting for lengthy amounts of time, and they may also be fidgety, easily fatigued, and unable to maintain concentration. Carrying big bags and books will be more difficult if you have mobility issues or low strength. Each child, of course, will be influenced differently.

Are Babies Born With Ehlers-Danlos Syndrome?

It is estimated that around one in every 2,000 persons is affected by a connective tissue disorder (CTD). CTDs are a diverse set of hereditary ailments that impact numerous systems and afflict approximately one in every 2,000 people. The joints, bones, skin, heart, and eyes are the primary sites of involvement in most illnesses. CTDs are often produced by anomalies in the extracellular matrix proteins, including collagen and fibrillin, present in the body. Because of advancements in molecular methods, it is now possible to identify genes involved in CTDs, which has resulted in a more excellent knowledge of the pathophysiology of each illness. As a result of this understanding, it is possible to detect problems early on, which has been demonstrated to enhance care greatly, increase the quality of life, as well as significantly reduce morbidity and mortality.

EDS affects around one out of every 5,000 newborns born across the world. It affects both boys and females of all racial and cultural origins, and it is contagious.


Types of Ehlers-Danlos Syndrome in Infants

EDS are classified into six primary categories. All kinds have an impact on the joints, and the majority affect the skin.

  • Hypermobility (the most common type)
  • Classical
  • Vascular (the most severe type)
  • Kyphoscoliosis
  • Arthrochalasis
  • Dermatosparaxis (most rare type)

EDS people may be more susceptible to specific illnesses such as weak blood vessels, mitral valve prolapse, low bone density, scoliosis, inflammatory bowel disease, hearing loss, arthritis, and joint sprains and dislocations name a few examples.

What Are the Signs and Symptoms of Eds in Infants?

When it comes to Ehlers-Danlos syndrome, the signs and symptoms can range from minor to life-threatening depending on the kind of condition. Some of the prevalent signs and symptoms are as follows:

  • hypermobility of the hands, fingers, and toes.
  • sloppy joint
  • a pair of flat feet
  • a high, thin palate that is crowded with teeth
  • skin that is light and smooth and that bruises readily
  • stretchable skin
  • wounds that are difficult to heal or wounds that scar in an irregular manner
  • discomfort in the muscles or the joints
  • muscular aches and pains, especially when cold

Some children with EDS may also have one or more of the following conditions:

  • delayed motor abilities
  • wide-set eyes, a narrow chin, a slender nose, and thin lips
  • short stature

When Should a Kid With Hypermobility Be Sent for Further Evaluation?

Is hypermobility in children a benign ailment or a manifestation of a more connective severe tissue problem might be a complex topic to answer.

Children’s joints are more hypermobile than adults’ joints, and their skin might be soft more malleable than adults’ skin. These are two characteristics of the Ehlers-Danlos syndromes, a collection of 13 connective tissue illnesses that affect the hands, feet, and joints (EDS).

Most EDS have lately been classed according to their significant characteristics and underlying causes, except hypermobile EDS (hEDS), the reason of which is currently unclear. According to the revised criteria for hEDS, a more significant threshold for joint hypermobility is required for prepubertal children and adolescents than for pubertal men and women up to the age of 50. hEDS is diagnosed when the following criteria are satisfied in addition to those listed above.

When Should You Be Concerned About a Connective Tissue Disorder?

The hypermobile variant of Ehlers-Danlos syndrome, which is the most frequent form of the condition, is diagnosed clinically based on three factors: There are three criteria for a diagnosis: 1) global joint hypermobility; 2) a constellation of musculoskeletal issues, systemic signs, and positive family history; and 3) elimination of any other potential illnesses.

As with the other EDS kinds and other connective tissue diseases, hypermobility is a defining characteristic of these conditions. Referring a patient for a formal connective tissue disease examination is warranted when the patient exhibits any of the signs and symptoms listed below. Depending on the characteristics and symptoms, such recommendations might be made to clinical genetics, rheumatology, cardiology, or orthopedics, among other specialties.

  • Generalized joint hypermobility: This is measured using the Beighton scoring method, which measures hypermobility in the fingers, wrists, elbows, knees, and spine, among other joints. A score of 6 or higher out of 9 on the hypermobility scale is considered high for prepubertal children. In some instances, children with joint hypermobility are asymptomatic. A referral for a suspected connective tissue disease is made based on other related characteristics and a family history of the condition.
  • Congenital hip dislocations and subluxations are not rare, as is the case with other joint dislocations. They might be a single occurrence, the outcome of breech presentation, or they could be indicative of an underlying connective tissue condition. Children who suffer from recurring dislocations/subluxations, particularly when combined with joint hypermobility, may be suffering from a connective tissue illness at their core.
  • Skin: Hyperextensible skin (especially if the skin can be stretched more than 3 cm at the neck), soft and velvety skin, poor wound healing, thin skin, and visible veins. Children’s skin can be very delicate and hyperextensible, especially during their early childhood. Bruising that is more severe than expected, atrophic scars, and visible veins might all be signs of a connective tissue condition. Scars, on the other hand, can be rather large, depending on the location and treatment.
  • Hypotonia: Congenital muscular hypotonia can be caused by several different factors. When hypotonia is present in conjunction with joint or skin abnormalities, it might indicate various connective tissue problems.
  • Kyphoscoliosis: In some types of EDS, patients can develop progressive scoliosis (also known as kyphoscoliosis), which should be evaluated if it occurs at a young age and is not associated with anatomical spinal defects.
  • Ophthalmologic: EDS and other connective tissue illnesses can cause a variety of eye problems. The presence of blue or grey sclerae in adults (beyond the age of infancy) may suggest thin sclerae and connective tissue involvement (beyond osteogenesis imperfecta).
  • Cardiac: The presence of mitral valve prolapse and aortic root dilatation in EDS should raise the possibility of a connective tissue condition, which should be considered as well.
  • Family history: Because many connective tissue disorders are autosomal dominant, a positive family history of a connective tissue disorder should increase the chance of a connective tissue problem. One of the criteria for hEDS now includes having a first-degree family diagnosed with hEDS. The presence of aneurysms or organ ruptures in the family, particularly in children, increases the likelihood of developing vascular EDS.
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