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.

Genes related to Spondyloocular Syndrome; Sos

XYLT2

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 Panel GTR000525804 complete gene list ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1, NBAS, B3GAT3, GORAB 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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