Spondyloocular Syndrome; Sos

Description

Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Clinical Features

Top most frequent phenotypes and symptoms related to Spondyloocular Syndrome; Sos

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Cataract
  • Muscle weakness
And another 55 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Spondyloocular Syndrome; Sos Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Spondyloocular syndrome.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

XYLT2
Specificity
100 %
Genes
100 %
Spondylo-ocular syndrome (sequence analysis of XYLT2 gene).

By CGC Genetics in Portugal.

XYLT2
Specificity
100 %
Genes
100 %
Spondylo-ocular syndrome (sequence analysis of XYLT2 gene).

By CGC Genetics in Portugal.

XYLT2
Specificity
100 %
Genes
100 %
OI panel 2.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

FKBP10, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, TAPT1, SPARC, XYLT2, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1, B3GALT6
Specificity
6 %
Genes
100 %
XYLT2.

By Fulgent Genetics Fulgent Genetics in United States.

XYLT2
Specificity
100 %
Genes
100 %
Pseudoxanthoma Elasticum , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

ABCC6, XYLT2, VEGFA, GGCX, ENPP1, XYLT1
Specificity
17 %
Genes
100 %


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