Brittle cornea syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 42 |
| OrphanetNr: | 90354 |
| OMIM Id: |
229200
614170 |
| ICD-10: |
Q79.6 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Connective tissue disease with eye involvement
-Rare eye disease -Rare genetic disease Ehlers-Danlos syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease -Rare systemic or rheumatologic disease |
Symptom Information:
|
|
(HPO:0000256) | Macrocephaly | 298 / 7739 | ||||
|
|
(HPO:0000703) | Dentinogenesis imperfecta | 18 / 7739 | ||||
|
|
(HPO:0000286) | Epicanthus | 371 / 7739 | ||||
|
|
(HPO:0000164) | Abnormality of the teeth | Occasional [Orphanet] | 291 / 7739 | |||
|
|
(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
|
|
(HPO:0001131) | Corneal dystrophy | Very frequent [Orphanet] | 56 / 7739 | |||
|
|
(HPO:0000541) | Retinal detachment | Occasional [Orphanet] | 87 / 7739 | |||
|
|
(HPO:0000501) | Glaucoma | Occasional [Orphanet] | 180 / 7739 | |||
|
|
(HPO:0001119) | Keratoglobus | 4 / 7739 | ||||
|
|
(HPO:0000563) | Keratoconus | 25 / 7739 | ||||
|
|
(HPO:0000481) | Abnormality of the cornea | Occasional [Orphanet] | 124 / 7739 | |||
|
|
(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
|
|
(HPO:0000545) | Myopia | Very frequent [Orphanet] | 286 / 7739 | |||
|
|
(HPO:0100692) | Increased corneal curvature | Very frequent [Orphanet] | 13 / 7739 | |||
|
|
(HPO:0100689) | Decreased corneal thickness | 2 / 7739 | ||||
|
|
(HPO:0000592) | Blue sclerae | Frequent [Orphanet] | 85 / 7739 | |||
|
|
(HPO:0000405) | Conductive hearing impairment | Frequent [Orphanet] | 164 / 7739 | |||
|
|
(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
|
|
(HPO:0000407) | Sensorineural hearing impairment | Frequent [Orphanet] | 524 / 7739 | |||
|
|
(HPO:0001288) | Gait disturbance | Frequent [Orphanet] | 318 / 7739 | |||
|
|
(HPO:0004349) | Reduced bone mineral density | Frequent [Orphanet] | 165 / 7739 | |||
|
|
(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
|
|
(HPO:0002659) | Increased susceptibility to fractures | Occasional [Orphanet] | 110 / 7739 | |||
|
|
(HPO:0001382) | Joint hypermobility | Frequent [Orphanet] | 231 / 7739 | |||
|
|
(HPO:0001385) | Hip dysplasia | Occasional [Orphanet] | 242 / 7739 | |||
|
|
(HPO:0007517) | Palmoplantar cutis laxa | 9 / 7739 | ||||
|
|
(HPO:0005930) | Abnormality of epiphysis morphology | Occasional [Orphanet] | 119 / 7739 | |||
|
|
(HPO:0003302) | Spondylolisthesis | 14 / 7739 | ||||
|
|
(HPO:0001388) | Joint laxity | 117 / 7739 | ||||
|
|
(HPO:0001374) | Congenital hip dislocation | 51 / 7739 | ||||
|
|
(HPO:0004299) | Hernia of the abdominal wall | Occasional [Orphanet] | 176 / 7739 | |||
|
|
(HPO:0001519) | Disproportionate tall stature | 39 / 7739 | ||||
|
|
(HPO:0000987) | Atypical scarring of skin | Frequent [Orphanet] | 58 / 7739 | |||
|
|
(HPO:0000993) | Molluscoid pseudotumors | 8 / 7739 | ||||
|
|
(HPO:0000978) | Bruising susceptibility | Frequent [Orphanet] | 123 / 7739 | |||
|
|
(HPO:0001595) | Abnormality of the hair | Frequent [Orphanet] | 89 / 7739 | |||
|
|
(HPO:0002297) | Red hair | 9 / 7739 | ||||
|
|
(HPO:0001633) | Abnormality of the mitral valve | Occasional [Orphanet] | 69 / 7739 | |||
|
|
(HPO:0001641) | Abnormality of the pulmonary valve | Occasional [Orphanet] | 27 / 7739 | |||
|
|
(HPO:0001634) | Mitral valve prolapse | 69 / 7739 | ||||
|
|
(HPO:0003326) | Myalgia | Frequent [Orphanet] | 143 / 7739 | |||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|