spondylo-ocular syndrome
Findings
No curated finding names spondylo-ocular syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0011604), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
54 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Atrial septal defectHPOHP:0001631
- 2 of 2 reported patients
- CataractHPOHP:0000518
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Dysplastic aortic valveHPOHP:0005176
- 2 of 2 reported patients
- Mitral valve prolapseHPOHP:0001634
- 2 of 2 reported patients
- Pes planusHPOHP:0001763
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- PlatyspondylyHPOHP:0000926
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 42
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)
- Retinal detachmentHPOHP:0000541
- 2 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Thoracic kyphosisHPOHP:0002942
- Very frequent (80% to 99% of cases)
- Visual lossHPOHP:0000572
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- XYLT2HGNC:15517
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021