X-linked corneal dermoid
Synonyms: Corneal dystrophy epithelial-short stature syndrome · Guízar Vázquez-Luengas-Muñoz syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked corneal dermoid | Corneal dystrophy epithelial-short stature syndrome · Guízar Vázquez-Luengas-Muñoz syndrome |
| fr | Dermoïde cornéen lié à l'X | Syndrome de Guízar Vázquez-Luengas-Muñoz · Syndrome de dermoïdes cornéens-petite taille |
| de | Korneales Dermoid, X-chromosomales | Epitheliale Hornhautdystrophie - Kleinwuchs · Guízar-Vázquez-Luengas-Muñoz-Syndrom |
| es | Dermoide corneal ligado al cromosoma X | Distrofia corneal epitelial-talla baja · Síndrome de Guízar-Vázquez-Luengas-Muñoz |
| it | Dermoide corneale legato all'X | Distrofia corneale epiteliale - bassa statura · Sindrome di Guízar-Vázquez-Luengas-Muñoz |
| nl | X-gebonden corneaal dermoïd | Epitheliale corneadystrofie - kleine gestalte-syndroom · Syndroom van Guízar-Vázquez-Luengas-Muñoz · X-gebonden dermoïdcyste van hoornvlies |
| pt | Dermóide da córnea ligado ao X | Distrofia epitelial da córnea-baixa estatura · Síndrome Guizar-Vasquez-Luengas |
| pl | Skórzak rogówki sprzężony z chromosomem X | Nabłonkowa dystrofia rogówki - niski wzrost · Zespół Guízar-Vázqueza i Luengas-Muñoza |
| cs | X-vázaný dermoid rohovky | Syndrom zahrnující epiteliální dystrofii rohovky a malý vzrůst · Guízar Vázquezův-Luengas Muñozův syndrom · Guízar Vázquez-Luengas Muñozův syndrom |
| uk | Х-зчеплений дермоїд рогівки | Синдром епітеліальної дистрофії рогівки - низького зросту · Синдром Гісара Васкеса-Луенгаса-Муньоса |
| zh | X连锁角膜皮样瘤 | 角膜上皮营养不良-身材矮小综合征 |
| tr | X'e bağlı korneal dermoid | Guízar Vázquez-Luengas-Muñoz sendromu · Korneal distrofi epitel-kısa boy sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 304730 | E | validated | |
| ICD-10 | Q13.4 | NTBT | attributed | validated |
| ICD-11 | 2F36.Y | NTBT | index | validated |
| MONDO | 0010579 | E | validated | |
| MeSH | C535376 | E | validated | |
| UMLS | C1844671 | E | validated | |
| GARD | 2580 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic diseases - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 11594343[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11594343[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007957 | Corneal opacity | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0000615 | Abnormal pupil morphology | |
| Occasional (29-5%) | ||
| HP:0000572 | Visual loss | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1661
- This record as JSON: /data/d/1661.json