brittle cornea syndrome
MeSH: C536198ORPHA: 90354
Overview
Human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with brittle cornea syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormality of the dentitionCleft palateConductive hearing impairmentSensorineural hearing impairmentGlaucomaRetinal detachmentCorneal scarringVisual lossBlue scleraeOsteoporosisHyperextensible skinSoft skinBruising susceptibilityKeratoglobusCorneal dystrophyArachnodactylyGait disturbanceNeonatal hypotoniaHip dysplasiaMitral valve prolapsePulmonic stenosisPes planusHallux valgusScoliosisIncreased susceptibility to fracturesMyalgiaAbnormal epiphysis morphologyAbnormality of hair pigmentationHigh myopiaCamptodactylyDecreased corneal thicknessHerniaCorneal erosionJoint hypermobility
Classification & Codes
MeSH Code
C536198Orphanet Code
ORPHA:90354brittle cornea syndrome
| MeSH | C536198 |
| Orphanet | ORPHA:90354 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO