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EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1; EDSSPD1

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1; EDSSPD1
GALACTOSYLTRANSFERASE I DEFICIENCY
130070
OMIM = Online Mendelian Inheritance of Men
75496
Beta-1,4-galactosyltransferase 7
2.4.1.133
5q35.3
Q79.6
rare
autosomal recessive
mutation in the B4GALT7 gene
Laboratory findings    no specific laboratory findings (P, S, U ,CSF) ()
Symptoms    arachnodyctyly
    dental abnormalities
    dwarfism
    dysmorphism
    failure to thrive
    frontal bossing
    hair, abnormal (thin, brittle, fine)
    hypertelorism
    hypotonia
    intellectual disability/intellectual developmental disorder
    joint laxity
    low set ears
    macrocephaly (large calvaria, >2 SD for age)
    onset, childhood
    onset, infancy
    psychomotor retardation
    sclerae, blue or bluish
    scoliosis
    short stature
    skin hyperelasticity
    small mid-face (malar or maxillary hypoplasia)