Ehlers-Danlos syndrome, spondylodysplastic type, 1

Alternative Names

  • EDSSPD1
  • Ehlers-Danlos syndrome with short stature and limb anomalies
  • EDSSLA
  • Proteodermatan Sulfate, Defective Biosynthesis of
  • PDS, Defective Biosynthesis of
  • Dermatan Sulfate Proteoglycan
  • Xylosylprotein 4-Beta-Galactosyltransferase Deficiency
  • XGPT Deficiency
  • Galactosyltransferase I Deficiency
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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

130070

Mode of Inheritance

Autosomal recessive

Gene Map Locus

5q35.3

Description

Ehlers Danlos syndrome is a group of heritable disorders of the connective tissue characterized by hyperextensible skin, joint hypermobility, and abnormalities of the internal organs. Most of these abnormalities result from defects in the structure or function of the collagen protein. Various forms of EDS are known. The spondylodysplastic type is a relatively rare subtype of EDS, which is principally characterized by a progeroid facies, multiple nevi, mild mental retardation, skin hyperextensibility, bruisability, moderate skin fragility, and joint hypermobility noticed principally in the digits.

Mutations in the B4GALT7 (Xylosylprotein 4-Beta-Galactosyltransferase, Polypeptide 7) gene have been shown to be responsible for the progeroid form of EDS. This gene codes for a membrane bound glycoprotein, galactosyltransferase-I, which plays a major role in the formation of proteoglycans. Since proteoglycans form an essential part of the extracellular matrix, and play major roles in several developmental and metabolic processes, it is easy to see how defects in its synthesis could lead to defects in the musculoskeletal system.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
130070.1.1QatarFemaleYesYes Abnormal facial shape; Global developmen...NM_007255.3:c.808C>THomozygousAutosomal, RecessiveFaiyaz-Ul-Haque et al. 2004
130070.1.2QatarMaleYesYes Abnormal facial shape; Global developmen...NM_007255.3:c.808C>THomozygousAutosomal, RecessiveFaiyaz-Ul-Haque et al. 2004 Paternal uncle of 13...

Other Reports

United Arab Emirates

In a United Arab Emirates family, Topley et al. (1994) described a brother and sister with Larsen syndrome born to parents related as first cousins. There was no family history of congenital anomalies and both parents, who are United Arab Emirates nationals, were phenotypically normal. Both children had many of the features of Larsen syndrome and most striking was their extremely short stature. However, in the second (female) child there was also diaphpragmatic hernia. Topley et al. (1994) proposed that the syndrome in their patients may represent a new variant within the recessive group of Larsen syndrome associated with severe short stature, but not necessarily accompanied by a high risk of early death from respiratory or cardiac complications.

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