Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Alternative Names

  • EDSKSCL1
  • Ehlers-Danlos Syndrome, Type VI
  • EDS VI
  • EDS6
  • Ehlers-Danlos Syndrome, Type VIA
  • EDS VIA
  • EDS6A
  • Ehlers-Danlos Syndrome, Oculoscoliotic Type
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

225400

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1p36.22

Description

The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) is an inherited connective tissue disorder characterized by severe muscular hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin fragility.

Biochemically, EDS VIA is characterized by a deficiency of collagen lysyl hydroxylase (EC 1.14.11.4) due to mutations in PLOD1. This deficiency results in underhydroxylation of collagen lysyl residues and an abnormal pattern of lysyl pyridinoline (LP) and hydroxylysyl pyridinoline (HP) crosslinks excreted in the urine.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
225400.1United Arab EmiratesFemaleYes Generalized hypotonia; Kyphoscoliosis; ...NM_000302.4:c.955C>THomozygousAutosomal, RecessiveGiunta et al. 2005
225400.2.1United Arab EmiratesFemaleYesYes Generalized hypotonia; Kyphosis; Joint...NM_000302.4:c.955C>THomozygousAutosomal, RecessiveGiunta et al. 2005 Twin sister died of ...
225400.2.2United Arab EmiratesFemaleYesYes Generalized hypotonia; Joint laxity; K...NM_000302.4:c.955C>THomozygousAutosomal, RecessiveGiunta et al. 2005 Second cousin of 225...
225400.3United Arab EmiratesMaleYes Generalized hypotonia; Kyphosis; Joi...NM_000302.4:c.955C>THomozygousAutosomal, RecessiveAl-Gazali et al. 1997; Giunta et al. 2005
225400.4.1United Arab EmiratesMaleYesYes Generalized hypotonia; Dolichocephaly;...NM_000302.4:c.955C>THomozygousAutosomal, RecessiveAl-Gazali et al. 1997; Giunta et al. 2005
225400.4.2United Arab EmiratesFemaleYesYes Generalized hypotonia; Spindle-shaped ...NM_000302.4:c.955C>THomozygousAutosomal, RecessiveGiunta et al. 2005 Sibling of 225400.4....
225400.5.1QatarFemaleYesYes Generalized hypotonia; Kyphoscoliosis; ...NM_000302.4:c.955C>THomozygousAutosomal, RecessiveHyland et al. 1992; Steinmann et al. 1995
225400.5.2QatarFemaleYesYes Generalized hypotonia; Kyphoscoliosis; ...NM_000302.4:c.955C>THomozygousAutosomal, RecessiveHyland et al. 1992; Steinmann et al. 1995 Sibling of 225400.5....
225400.6United Arab EmiratesFemaleNoNo Heart murmur; Congenital contractureNM_000302.4:c.955C>THomozygousAutosomal, RecessiveMahfouz et al. 2020

Other Reports

Jordan

[See: Saudi Arabia > Cameron, 1993].

Kuwait

Farag and Schimke (1989) described an Arab brother and sister with the phenotype of EDS VI in association with peripheral polyneuropathy, as confirmed by nerve conduction velocity, electromyographic and muscle biopsy. In addition, the siblings also had aortic regurgitation and a mitral valve prolapse. The two siblings were born to consanguineous Bedouin parents and grandparents. Farag and Schimke (1989) proposed that this clinical combination either represented a new subtype of EDS, or manifested itself due to two independent recessive traits expressing themselves in the inbred kindred.

Saudi Arabia

Cameron (1993) described the corneal abnormalities of 11 Arab patients (five boys and six girls) with clinical findings consistent with EDS Type VI. These patients included five Saudis, three Syrians, two Jordanians, and one Yemeni from nine different families. All 11 patients had blue sclera, limbus-to-limbus corneal thickening, curvature abnormality, easily everted eyelids, and hypermobile joints. In addition, all were born to phenotypically normal first cousin consanguineous parents. Systemic abnormalities associated with the generalized connective tissue disorder in the patients included increased skin laxity, pectus excavatum, scoliosis, congenital hip and recurrent shoulder dislocations, high-frequency hearing loss, high arched palate, and mitral valve prolapse. Seven patients experienced corneal rupture spontaneously or following minimal trauma, whereas five patients had peripheral sclerocornea, and acute hydrops occurred in three.

Syria

[See: Saudi Arabia > Cameron, 1993].

Yemen

[See: Saudi Arabia > Cameron, 1993].

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