Ehlers-Danlos syndrome, spondylodysplastic type (EDSSPD) is a rare autosomal recessive connective tissue disorder, caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. The majority of EDSSPD patients presented with short stature, skin hyperextensibility, facial dysmorphisms, peculiar radiological findings, muscle hypotonia and joint laxity.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD28 Syndromes with connective tissue involvement as a major feature
H02239 Ehlers-Danlos syndrome, spondylodysplastic type
Pathway-based classification of diseases [BR:br08402]
Glycan/glycoprotein metabolism
nt06029 Glycosaminoglycan biosynthesis
H02239 Ehlers-Danlos syndrome, spondylodysplastic type
Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS
Title
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafe L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S
Title
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
