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Autosomal recessive Ehlers-Danlos syndrome, vascular type

MedGen UID:
541287
•Concept ID:
C0268340
•
Disease or Syndrome
Synonyms: autosomal recessive Ehlers-Danlos syndrome, vascular type; autosomal recessive type IV Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, recessive type 4; Ehlers-Danlos syndrome, vascular type, autosomal recessive
 
Monarch Initiative: MONDO:0002014

Definition

The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. [from MONDO]

Recent clinical studies

Etiology

A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome.
Esaka EJ, Golde SH, Stever MR, Thomas RL
Obstet Gynecol 2009 Feb;113(2 Pt 2):515-518. doi: 10.1097/AOG.0b013e3181898cbf. PMID: 19155940

Diagnosis

A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.
Tosun A, Kurtgoz S, Dursun S, Bozkurt G
Pediatr Neurol 2014 Oct;51(4):566-9. Epub 2014 Jul 10 doi: 10.1016/j.pediatrneurol.2014.06.020. PMID: 25266621
A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome.
Esaka EJ, Golde SH, Stever MR, Thomas RL
Obstet Gynecol 2009 Feb;113(2 Pt 2):515-518. doi: 10.1097/AOG.0b013e3181898cbf. PMID: 19155940
Monogenic vessel diseases related to ischemic stroke: a clinical approach.
Ballabio E, Bersano A, Bresolin N, Candelise L
J Cereb Blood Flow Metab 2007 Oct;27(10):1649-62. Epub 2007 Jun 20 doi: 10.1038/sj.jcbfm.9600520. PMID: 17579657

Prognosis

A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome.
Esaka EJ, Golde SH, Stever MR, Thomas RL
Obstet Gynecol 2009 Feb;113(2 Pt 2):515-518. doi: 10.1097/AOG.0b013e3181898cbf. PMID: 19155940

Clinical prediction guides

A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.
Tosun A, Kurtgoz S, Dursun S, Bozkurt G
Pediatr Neurol 2014 Oct;51(4):566-9. Epub 2014 Jul 10 doi: 10.1016/j.pediatrneurol.2014.06.020. PMID: 25266621

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