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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Knobloch syndrome


Other Names for this Disease

  • Myopia retinal detachment encephalocele
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Symptoms

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What are the signs and symptoms of Knobloch syndrome?

The three main features of Knobloch syndrome are severe nearsightedness (myopia), recurrent retinal detachment, and encephalocele. The severe myopia develops early on in life, and it is usually diagnosed within the first year of life. Affected individuals may have additional eye abnormalities, such as congenital cataracts. An encephalocele is a sac-like protrusion of the brain through an opening in the skull. A variety of other signs and symptoms have been described in affected individuals. Intelligence is not affected by Knobloch syndrome.[1]
Last updated: 4/5/2010

The Human Phenotype Ontology provides the following list of signs and symptoms for Knobloch syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

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 -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Knobloch syndrome. Orphanet. September 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1571. Accessed 4/5/2010.


Other Names for this Disease
  • Myopia retinal detachment encephalocele
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.