Children of people with EDS

Ok so I have a 6 year old. When I got diagnosed they did an e.k.g. to see if we both had marfan. Neither of us did.
My question. He has alot of the symptoms I have had. He says his back, legs or neck etc. pop. He gets over heated easily. He is clumsy when he runs. Just alot I recognized from my early life. He plans to be an olympic swimmer. He is very active.
What test should they do if any?

Report post

9 replies. Join the discussion

My childrens (aged 13/10) doctor want's to do the same genetic skin biopsy test that was done on me...I'm considering it, but struggle with it, the pain etc...I am going to see if we can get an echo done first...(they both have some symptoms)

Report post

Hello Flutterby101,

Have you been diagnosed with EDS? If so, his diagnosis will be made easily and will be the same type you have. The Hypermobility Type of EDS is diagnosed by clinical examination, medical history, and family medical history. All of the genetic mutations for this type have not been found yet, so no genetic test is available. The Classical Type of EDS is diagnosed the same way. There is a genetic test available, but it is currently only 50% accurate and is therefore generally only given for research. The Vascular Type of EDS is diagnosed also the same way, though it has a genetic blood test available that is 98% accurate....in other words, it can confirm diagnosis but not definitively rule it out. The less common types of EDS also have genetic tests available.

Dr. Levy told me when I asked about my children being assessed for EDS, that I should bring them in when 1) their symptoms started to greatly impact their lives or 2) when the lack of knowing impacted either their or my quality of life. We have not hit either of those criteria yet, so I continue to just watch and limit activities that can damage joints.

Here is more about diagnosis:

EDS TYPES - DIAGNOSTIC CRITERIA

Classical Type

Major diagnostic criteria

*skin hyperextensibility
*widened atrophic scars--(manifestation of tissue fragility)
*joint hypermobility

Minor diagnostic criteria

*smooth velvety skin
*molluscoid pseudotumors
*subcutaneous spheroids
*complications of joint hypermobility (sprains, dislocations/subluxations, pes planus, etc.; Beighton and Horan, 1969)
*muscle hypotonia, delayed gross motor development
*easy bruising
*manifestations of tissue extensibility and fragility (e.g., hiatal hernia, anal prolapse in childhood, cervical insufficiency) [Steinmann et al., 1993]
*surgical complications (post-operative hernias); [Beighton and Horan, 1960, Steinmann et al., 1993]
*positive family history

Special comments

1. The skin manifestations range in severity; families with mild, moderate and severe expression have been described (Table).

2. Molluscoid pseudotumors are fleshy lesions associated with scars. They are frequently found over pressure points (e.g., elbows).

3. Spheroids are small subcutaneous spherical hard bodies, frequently mobile and palpable on the forearms and shins. Spheroids may be calcified and detectable radiologically.

3. Recurrent joint subluxations are frequent in the shoulder, patella, and temporomandibular joints.

4. Dyspareunia and sexual dysfunction are occasional complaints in the Classical and other types of EDS [Sorokin et al., 1994].

5. Fatigue is a frequent complaint.

----------

Hypermobility Type

Major diagnostic criteria

*Skin involvement (hyperextensibility and/or smooth, velvety skin)
*Generalized joint hypermobility

Minor diagnostic criteria

*recurring joint dislocations
*chronic joint/limb pain
*positive family history

Special comments

1. Skin extensibility is variable. The presence of atrophic scars in individuals with joint hypermobility suggests the diagnosis of the Classical Type.

2. Joint hypermobility is the dominant clinical manifestation. Certain joints, such as the shoulder, patella, and temporo-mandibular joints dislocate frequently.

3. In rheumatologic practice, large numbers of patients present with generalized joint hypermobility [Beighton et al., 1983]. It is important to distinguish these individuals from those affected with the Hypermobility Type of EDS. There is considerable debate as to the causal interrelationships, if any, between the phenotype in such persons, and that of the Hypermobility Type of EDS.

4. Musculoskeletal pain is early in onset, chronic, and may be debilitating (Sacheti et al., 1997). The anatomical distribution is wide and tender points can sometimes be elicited. A tender point is defined as an area that, when palpated with the thumb or 2 or 3 fingers will be painful at a pressure of 4 kg or less [Wolfe et al., 1990].

----------

Vascular Type

Major diagnostic criteria

*Thin translucent skin
*Arterial/intestinal/uterine fragility or rupture
*Extensive bruising
*Characteristic facial appearance

Minor diagnostic criteria

*Acrogeria
*Hypermobility of small joints
*Tendon and muscle rupture
*Talipes equinovarus (clubfoot)
*Early onset varicose veins
*Arteriovenous, carotid-cavernous sinus fistula
*Pneumothorax/pneumohemothorax
*Gingival recession
*Positive family history, sudden death in (a) close relative(s)

Specific comments

1. Facial appearance is characteristic in some affected individuals ( Fig 1). There is a decrease in the subcutaneous adipose tissue, particularly in the face and limbs.

2. Joint hypermobility is usually limited to the digits.

3. Spontaneous arterial rupture has a peak incidence in the third or fourth decade of life but may occur earlier. Midsize arteries are most commonly involved. Arterial rupture is the most common cause of sudden death [Pepin et al., 1992].

4. Acute abdominal and flank pain (diffuse or localized) is a common presentation of arterial or intestinal rupture and should be investigated urgently. Non-invasive diagnostic procedures are recommended.

5. The subcutaneous venous pattern is particularly apparent over the chest and abdomen.

6. In the presence of severe bruising as an initial complication, child abuse and/or hematological disorders need to be considered. In the context of chronic bruising and abnormal scar formation, differentiation from the Classical Type of EDS is necessary.

7. Diagnosis of this condition is difficult in children in the absence of a family history.

8. Pregnancies may be complicated by intra-partum uterine rupture and pre- and post-partum arterial bleeding. Vaginal and perineal tears may be sustained during delivery.

9. Complications during and after surgery (e.g., wound dehiscence) are frequent and severe.

----------

Kyphoscoliosis Type

Major diagnostic criteria

*Generalized joint laxity
*Severe muscle hypotonia at birth
*Scoliosis at birth, progressive
*Scleral fragility and rupture of the ocular globe

Minor diagnostic criteria

*Tissue fragility, including atrophic scars
*Easy bruising
*Arterial rupture
*Marfanoid habitus
*Microcornea
*Radiologically considerable osteopenia
*Family history, i.e., affected sibs

Specific comments

1. Muscular hypotonia can be very pronounced and leads to delayed gross motor development. This condition should be considered in the initial differential diagnosis of a floppy infant [Wenstrup et al., 1989; Steinmann et al., 1993].

2. The phenotype is most often severe, frequently resulting in loss of ambulation in the second or third decade.

3. Scleral fragility may lead to rupture of the ocular globe after minor trauma. The condition should be differentiated from the brittle cornea syndrome [Royce et al., 1990]. It is now apparent that serious eye complications are much less frequent than previously thought [Wenstrup et al., 1989; Steinmann et al., 1993], hence the change in the descriptor of this type .

4. The severe neonatal form of Marfan syndrome should be considered in the differential diagnosis.

5. There have been reports of a less severe form of the condition with normal activity of lysyl hydroxylase and a normal hydroxylysine content in the dermis (OMIM # 229200); this form is even rarer.

----------

Arthrochalasia Type

Major diagnostic criteria

*Severe generalized joint hypermobility with recurrent subluxations
*Congenital bilateral hip dislocation.

Minor diagnostic criteria

*Skin hyperextensibility
*Tissue fragility, including atrophic scars
*Easy bruising
*Muscle hypotonia
*Kyphoscoliosis
*Radiologically mild osteopenia

Special comments

1. Congenital hip dislocation has been present in all biochemically proven individuals.

2. Short stature is not a manifestation, unless it is a complication of severe kyphoscoliosis and/or hip dislocation.

3. Larsen syndrome should be considered in the differential diagnosis.

-----------

Dermatosparaxis Type

Major diagnostic criteria

*Severe skin fragility
*Sagging, redundant skin

iii) Minor diagnostic criteria

*Soft, doughy skin texture
*Easy bruising
*Premature rupture of fetal membranes
*Large hernias (umbilical, inguinal)

Special comments

1. Skin fragility and bruising are substantial. Wound healing is not impaired and the scars are not atrophic.

2. The redundancy of the facial skin results in an appearance resembling cutis laxa; however, bruising and skin fragility are not manifestations of cutis laxa.

3. The name was taken from a similar phenotype and biochemical defect previously recognized in cattle, sheep and other animals.

4. The number of patients reported is small and the phenotypic spectrum might expand.

----------

Other Types of the EDS

The previous EDS type V (X-linked) was described in a single family [Beighton and Curtis, 1985].

The previous EDS type VIII is similar to the Classical Type except that in addition it presents with periodontal friability [Stewart et al., 1977]. This is a rare type of EDS. The existence of this syndrome as an autonomous entity is uncertain.

EDS type IX was redefined previously as "occipital horn syndrome", an X-linked recessive condition allelic to Menkes syndrome (OMIM # 309400) [Beighton et al., 1988].

The previous EDS type X was described in one family only [Arneson et al., 1980; for comments, see Steinmann et al., 1993].

The EDS type XI termed "familial joint hypermobility syndrome" was previously removed from the EDS classification [Beighton et al., 1988]. Its relationship to the EDS is not yet defined.
Ehlers-Danlos Syndrome, or EDS, is a genetic connective tissue disorder which causes defective collagen. Collagen is found throughout the body in all systems from tendons, cartilage, and ligaments, skin, eyeballs, fascia (the “saran wrap-like substance that surrounds muscles and organs), the lining of the bronchi, etc. Symptoms are varied amongst patients, even within the same family. The Hypermobility type of EDS is inherited in an autosomal dominant pattern. If your mother has EDS-Hypermobility type, then there is a 50% chance you also have EDS-Hypermobility Type…in other words, if you have EDS then it will be the same type as your mother even if symptoms are not identical.

Diagnosis of EDS is done usually by a geneticist experienced with telling the difference amongst the connective tissue disorders. The gene mutation(s) responsible for causing EDS-Hypermobility Type has not yet been identified, so diagnosis is made by clinical examination, medical history, and family medical history. The clinical examination may include testing skin for what it feels like, how much it stretches; the Beighton Score http://www.hypermobility.org/beighton.php or the newer Brighton Score http://www.hypermobility.org/diagnosis.php for testing hypermobility. It might also include an echocardiogram if heart or vascular issues are suspected, or other tests depending on the symptoms and doctor.

Of course the purpose of diagnosis is to get appropriate care, so I hope you are able to have your and your son't needs met soon.

Gentle hugs...

Report post

Hello Frvetere,

I am curious what type of EDS you have? As I understand it, only the Arthrochalasia Type and Dermatosparaxis Type use skin biopsy for diagnosis. Do you have one of these two types?

I hope you and your child are well.

Gentle hugs...

Report post

I have EDS type 3. Thank you so much for all your information.

Report post

Hello Flutterby,

Then your children could only have EDS-Hypermobility. There is no skin biopsy, blood test, urine test, or saliva test for EDS-Hypermobility. Only clinical examination, medical history, and family medical history (including your diagnosis for EDS-Hypermobility type) is used so no worries about the testing, ok?

Take care...

Report post

If you have any second thoughts abouty the accuracy of your dx or what your child is dealing with, if anything, A geneticist is the best person to delinieate between the different types of connective tissue disorders (of which EDS belongs). While other p;hysicians can make a diagnosis, it is really a geneticist who has been trained to do the best differential (deductive process of elimination of all possibilities until only one is dx is left).

Remember, your son inherits only half of your genes. The other is from the father. So if you are seeing something that does not make sense and are producing needs, then maybe consulting with a geneticist would help.

Another option is to ask for genetic counseling to think about how deep you want to delve into your sons dx or if it is necessary. These sort of things can be clarified by a genetic counselor. It's a one time visit and you may or may not be required to see the supervising geneticist.

Report post

Thanks everyone again. I was told it is EDS with marfanoid habius. Is this the same as EDS 3?

Report post

Hello again,

Ehlers-Danlos Syndrome of any type is a genetic connective tissue disorder that produces defective collagen. Marfanoid Habitus is a body type that includes tall, thin, long fingers and toes, and an arm-span greater than 1.05 than height. Marfaniod Habitus can be seen in any type of EDS, in Marfan Syndrome, in other Connective Tissue Disorders, and in those with no genetic condition. A genetecist can tell you what type of EDS you and your son have if indeed you do.

Gentle hugs...

Report post

Hi,

You wrote that you had both had EKGs. This is NOT relevant to ruling out a dx of Marfan's-- it requires an ECHOcardiogram. Perhaps you just mis-spoke. If not, get one, for both of you. See the Marfan's foundation re diagnosis.

There are probably many types of EDS that we don't have a name for yet-- different variations. Marfanoid habitus just means a body type (upper to lower body ratio, spidery fingers, long arms) and goes along with connective tissue disorders but does not mean you have Marfan's unless you have dilated aortas.

It sounds like a good genetic counselor might be valuable to you. Most medical geneticists have one working with one, but there are some, I was reading, who are paid by the companies that sell the tests, and not the geneticists. Some people speculate that this might unconsciously influence the counselor, and others say that their professionalism and ethics over ride this.

You might also want to think about the emotional, knotty, complex and ultimately unanswerable question of whether your son's *particular* body is suited to competitive swimming. Every person with EDS is different and there's no real prediction based on science, but many folks find that competitive sports (where you are necessarily required to push past your own body's messages to back off) can be harmful in the long run. But sometimes it's worth it to the individual. Honestly, there is no right answer to this one so please don't think I am suggesting any particular response.

Good luck, speranza

Report post

This discussion is closed to replies. We close all discussions after 90 days.

If there's something you'd like to discuss, click below to start a new discussion.

Things you can do

Support EDNF

Help the Ehlers-Danlos National Foundation reach its goals and support people like yourself by making a donation today.

Donate to the Ehlers-Danlos National Foundation

Discussion topics

Community leaders