Dermatosparaxis 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. The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, <i>ADAMTS2</i>, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.



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Narrow down the case reports



Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(60.5%)		 12969232
 Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC).
De Coster PJ, Malfait F, Martens LC, De Paepe A.
J Oral Pathol Med. 2003;32(9):568-70.
Micrognathia Hypodontia
ADAMTS2
Ehlers-Danlos Syndrome Females Homo sapiens Jaw Abnormalities Mouth Abnormalities Temporomandibular Joint Disorders Tooth Abnormalities
2
(57.8%)		 1403389
 Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC.
Wertelecki W, Smith LT, Byers P.
J Pediatr. 1992;121(4):558-64.
Micrognathia
Ehlers-Danlos Syndrome Electron Microscopy Females Homo sapiens Infant, Newborn Procollagen Skin
        

Phenotype(s) retrieved from Orphanet

    Total: 36

HPO ID Term Frequency
HP:0000938 Osteopenia Very frequent (99-80%)
HP:0000939 Osteoporosis Very frequent (99-80%)
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:0001367 Abnormal joint morphology 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:0002020 Gastroesophageal reflux Very frequent (99-80%)
HP:0002036 Hiatus hernia 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:0002748 Rickets Very frequent (99-80%)
HP:0002749 Osteomalacia Very frequent (99-80%)
HP:0002812 Coxa vara Very frequent (99-80%)
HP:0002827 Hip dislocation Very frequent (99-80%)
HP:0003010 Prolonged bleeding time 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:0007392 Excessive wrinkled skin Very frequent (99-80%)
HP:0010529 Echolalia Very frequent (99-80%)
HP:0100633 Esophagitis Very frequent (99-80%)
HP:0100699 Scarring Very frequent (99-80%)
HP:0100790 Hernia Very frequent (99-80%)
HP:0000023 Inguinal hernia Frequent (79-30%)
HP:0000278 Retrognathia Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0100541 Femoral hernia Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 9509