Orphanet .. interesting reading about all rare diseases

[Guest guest]

Hi there,

You should look under Clinical signs. On the website or this page there are 9

symptoms they show. This is what I meant by a list.

ORPHANET is a database dedicated to information on rare diseases and orphan

drugs. Access to this database is free of charge.

Orphanet is located at: http://www.orpha.net

Information is in French and English.

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On that page do a disease seach for Ehlers-Danlos. Six types are shown. From

there, choose what you want to look at or read all.

You next click on Clinical signs. Each of the six types of EDS has it own

list clinical signs.

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D I S E A S E : Ehlers-Danlos syndrome, hypermobile type

Included disease(s)

Ehlers-Danlos syndrome type 3

ICD Q79.6

Ehlers-Danlos syndrome is a heterogenous group of inherited disorders that

affect the connective tissue. The new classification describes six clinical

forms among which the 'hypermobile' form (formerly EDS type III). Main clinical

signs are hyperextensible joints (Beighton's score is above 5) and skin (to

variable degrees). One cardinal sign of classical EDS, i.e. atrophic skin scars,

is not found in the hypermobile form. Pain of unknown origin, repeated sprains

and/or luxations and a family history constitute other diagnosis criteria.

Viscera are not affected in hypermobile EDS. It is transmitted as an autosomal

dominant trait. Differential diagnosis should be made with hyperextensible joint

syndrome, a frequent isolated condition in the population with no skin

involvement. As of today there is no biochemical marker for hypermobile EDS.

Thus,

diagnosis is mainly clinical and requires a specialist's opinion. More families

need to be included in studies for genetic linkage if the gene(s) is (are) to

be identified. *Author: D. Germain, M.D. (Sept. 1999)*

MIM : 130020

Clinical signs(9)

Other website(s)(2)

Outpatient clinic(s)

Bone diseases clinic

Dysmorphology clinic

Ehlers-Danlos clinic

Genodermatosis clinic

Genetic counselling clinic

Any outpatient dermatology clinic

Any outpatient internal medicine clinic

Diagnostic laboratory (1)

Research projects (2)

Support group(s) (3)