Arthrochalasia Ehlers-Danlos syndrome

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(20.4%)		 23158907
(3545852)
 Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
Melis D, Cappuccio G, Ginocchio VM, Minopoli G, Valli M, Corradi M, Andria G.
Ital J Pediatr. 2012;38:65.
Joint hypermobility
COL1A2
Aortic Valve Insufficiency Child Differential Diagnosis Ehlers-Danlos Syndrome Enzyme Inhibitors Exons Females Follow-Up Studies Homo sapiens Joint Instability Mitral Valve Insufficiency Mutation Phenotype Skin Abnormalities Tricuspid Valve Insufficiency
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000963 Thin skin Very frequent (99-80%)
HP:0000974 Hyperextensible skin Very frequent (99-80%)
HP:0001001 Abnormality of subcutaneous fat tissue Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001373 Joint dislocation Very frequent (99-80%)
HP:0001385 Hip dysplasia Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0002300 Mutism Very frequent (99-80%)
HP:0002357 Dysphasia Very frequent (99-80%)
HP:0002381 Aphasia Very frequent (99-80%)
HP:0002673 Coxa valga Very frequent (99-80%)
HP:0002812 Coxa vara Very frequent (99-80%)
HP:0002827 Hip dislocation Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0005692 Joint hyperflexibility Very frequent (99-80%)
HP:0005743 Avascular necrosis of the capital femoral epiphysis Very frequent (99-80%)
HP:0010529 Echolalia Very frequent (99-80%)
HP:0010547 Muscle flaccidity Very frequent (99-80%)
HP:0100699 Scarring Very frequent (99-80%)
HP:0000278 Retrognathia Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0100541 Femoral hernia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
COL1A2 collagen type I alpha 2 chain 1278
COL1A1 collagen type I alpha 1 chain 1277