ORPHA:90354
Brittle cornea syndrome
Synonyms: Ehlers-Danlos syndrome type 6B
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brittle cornea syndrome | Ehlers-Danlos syndrome type 6B |
| fr | Syndrome de la cornée fragile | Syndrome d'Ehlers-Danlos type 6B |
| de | Brittle-Cornea-Syndrom | Ehlers-Danlos-Syndrom Typ 6B |
| es | Síndrome de córnea frágil | Síndrome de Ehlers-Danlos tipo 6B |
| it | Sindrome della cornea fragile | Sindrome di Ehlers-Danlos tipo 6B |
| nl | Brittle cornea-syndroom | Syndroom van Ehlers-Danlos type 6B |
| pt | Síndrome da córnea frágil | Síndrome Ehlers-Danlos tipo 6B |
| pl | Zespół kruchej rogówki | = en |
| cs | Syndrom křehkých rohovek | = en |
| uk | Синдром крихкої рогівки | Синдром Елерса-Данлоса, тип 6B |
| zh | 脆性角膜综合征 | |
| tr | Brittle kornea sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 229200 | E | validated | |
| OMIM | 614170 | BTNT | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.1Y | NTBT | index | validated |
| MONDO | 0009242 | E | validated | |
| UMLS | C0268344 | E | validated | |
| GARD | 1019 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98249Ehlers-Danlos syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRDM5 | Disease-causing germline mutation(s) in | Assessed | HGNC:9349 | ENSG00000138738 | 614161 | 4q27 | PR/SET domain 5 | 21664999[PMID] |
| ZNF469 | Disease-causing germline mutation(s) in | Assessed | HGNC:23216 | ENSG00000225614 | 612078 | 16q24.2 | zinc finger protein 469 | 19661234[PMID]_20938016[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 65 cases | Worldwide | Case(s) | Validated | 14679583[PMID]_17122114[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
47 annotations · validated 2026-04-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000592 | Blue sclerae | Diagnostic criterion |
| HP:0001382 | Joint hypermobility | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0000483 | Astigmatism | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0100583 | Corneal perforation | |
| HP:0100689 | Decreased corneal thickness | Diagnostic criterion |
| HP:0000365 | Hearing impairment | |
| HP:0011003 | High myopia | Diagnostic criterion |
| HP:0000974 | Hyperextensible skin | |
| HP:0000563 | Keratoconus | Diagnostic criterion |
| HP:0001119 | Keratoglobus | Diagnostic criterion |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000977 | Soft skin | Diagnostic criterion |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001166 | Arachnodactyly | Diagnostic criterion |
| HP:0000978 | Bruising susceptibility | |
| HP:0012385 | Camptodactyly | |
| HP:0030009 | Cervical insufficiency | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0200020 | Corneal erosion | |
| HP:0000559 | Corneal scarring | Diagnostic criterion |
| HP:0005280 | Depressed nasal bridge | |
| HP:0010648 | Dermal translucency | Diagnostic criterion |
| HP:0012785 | Flexion contracture of finger | Diagnostic criterion |
| HP:0008947 | Floppy infant | |
| HP:0002007 | Frontal bossing | |
| HP:0000501 | Glaucoma | |
| HP:0001822 | Hallux valgus | Diagnostic criterion |
| HP:0100790 | Hernia | |
| HP:0000218 | High palate | |
| HP:0001385 | Hip dysplasia | |
| HP:0000316 | Hypertelorism | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0001373 | Joint dislocation | |
| HP:0002751 | Kyphoscoliosis | Diagnostic criterion |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000939 | Osteoporosis | |
| HP:0001763 | Pes planus | Diagnostic criterion |
| HP:0001058 | Poor wound healing | |
| HP:0001788 | Premature rupture of membranes | |
| HP:0000541 | Retinal detachment | |
| HP:0002650 | Scoliosis | |
| Very rare (<4-1%) | ||
| HP:0000485 | Megalocornea | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 40647596[PMID]_33739556[PMID]_33739556[PMID]_28306229[PMID]_23642083[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90354
- This record as JSON: /data/d/90354.json