The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of the macula | 90% |
| Encephalocele | 90% |
| Myopia | 90% |
| Retinal detachment | 90% |
| Skull defect | 90% |
| Abnormality of the vitreous humor | 50% |
| Hydrocephalus | 50% |
| Nystagmus | 50% |
| Visual impairment | 50% |
| Cataract | 7.5% |
| Depressed nasal bridge | 7.5% |
| Ectopia lentis | 7.5% |
| Epicanthus | 7.5% |
| Joint hypermobility | 7.5% |
| Lymphangioma | 7.5% |
| Malar flattening | 7.5% |
| Patent ductus arteriosus | 7.5% |
| Pyloric stenosis | 7.5% |
| Seizures | 7.5% |
| Situs inversus totalis | 7.5% |
| Strabismus | 7.5% |
| Vesicoureteral reflux | 7.5% |
| Mental deterioration | 5% |
| Ataxia | - |
| Autosomal recessive inheritance | - |
| Band keratopathy | - |
| Cerebellar atrophy | - |
| Cerebral atrophy | - |
| Congenital cataract | - |
| Macular hypoplasia | - |
| Occipital encephalocele | - |
| Phenotypic variability | - |
| Phthisis bulbi | - |
| Polymicrogyria | - |
| Severe Myopia | - |
| Ventriculomegaly | - |
| Visual loss | - |
| Vitreoretinal degeneration | - |
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
2015 Collagen Gordon Research Conference and Gordon Research Seminar
Sunday, July 12, 2015 -
Friday, July 17, 2015
Location:
New London,
NH
Description: The 2015 Collagen GRC program will include invited and platform presentations as well as posters on (a) new data and concepts about the genetics, chemistry, biology and pathology of collagens; (b) advances in closely related areas of research, such as cell-matrix interactions, developmental biology and diseases of connective tissues, and bioengineering, that are relevant to the collagen field; (c) new and emerging technologies and approaches that may be applied to the collagen field.
Contact: Hung Tseng, Ph.D., (301) 496-0810, tsengh@mail.nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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How did Knobloch syndrome get its name? Is severe myopia one of the main symptoms? See answer
