Spondylo-ocular syndrome

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.



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Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(38.6%)		 11260210
 Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.
Schmidt H, Rudolph G, Hergersberg M, Schneider K, Moradi S, Meitinger T.
Clin Genet. 2001;59(2):99-105.
Facial hypotonia Platyspondyly
Adult Cataract Child Chromosome Segregation Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 6 DNA Eye Diseases, Hereditary Face Females Genes, Recessive Homo sapiens Iraq Male Osteoporosis Retinal Detachment Short Tandem Repeat Syndrome
2
(23.3%)		 26027496
 Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME.
Am J Hum Genet. 2015;96(6):971-8.
Cataract Osteoporosis Vertebral compression fractures
XYLT2
c|DEL|520| c|DUP|692|| p|SUB|A,P|174|RO rs150417924 rs797044806 rs797044807
Base Sequence Cataract Craniofacial Abnormalities Diphosphonates Exome Eye Diseases, Hereditary Homo sapiens Homozygote Immunohistochemistry Male Molecular Sequence Data Osteochondrodysplasias Osteoporosis Real-Time Polymerase Chain Reaction Retinal Detachment Sequence Analysis, DNA
        

Phenotype(s) retrieved from Orphanet

    Total: 31

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000534 Abnormal eyebrow morphology Very frequent (99-80%)
HP:0000541 Retinal detachment Very frequent (99-80%)
HP:0000572 Visual loss Very frequent (99-80%)
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0000939 Osteoporosis Very frequent (99-80%)
HP:0002942 Thoracic kyphosis Very frequent (99-80%)
HP:0003521 Disproportionate short-trunk short stature Very frequent (99-80%)
HP:0005108 Abnormality of the intervertebral disk Very frequent (99-80%)
HP:0007730 Iris hypopigmentation Very frequent (99-80%)
HP:0000297 Facial hypotonia Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000568 Microphthalmia Frequent (79-30%)
HP:0001629 Ventricular septal defect Frequent (79-30%)
HP:0001763 Pes planus Frequent (79-30%)
HP:0008063 Aplasia/Hypoplasia of the lens Frequent (79-30%)
HP:0000233 Thin vermilion border Occasional (29-5%)
HP:0000343 Long philtrum Occasional (29-5%)
HP:0000369 Low-set ears Occasional (29-5%)
HP:0000391 Thickened helices Occasional (29-5%)
HP:0000465 Webbed neck Occasional (29-5%)
HP:0000545 Myopia Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000974 Hyperextensible skin Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0002162 Low posterior hairline Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0004467 Preauricular pit Occasional (29-5%)
HP:0005692 Joint hyperflexibility Occasional (29-5%)
HP:0009738 Abnormality of the antihelix Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000518 Cataract 1
HP:0002953 Vertebral compression fractures 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
XYLT2 xylosyltransferase 2 64132