ORPHA:99169

Epiblepharon

Type: Morphological anomaly
Group: Disorder
Status: active

A rare eyelid malposition disorder characterized by a horizontal fold consisting of redundant skin and underlying pretarsal orbicularis muscle overriding the eyelid margin and causing inward rotation of the eyelashes with potential irritation of the ocular surface. Patients may be asymptomatic or experience foreign body sensation, constant watering, itching, and redness of the eyes. Complications include repeated infections and corneal erosion. The condition is usually bilateral and more commonly affects the lower eyelids.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Epiblepharon
fr	Epiblépharon
de	Epiblepharon
es	Epiblefaron
it	Epiblefaron
nl	Epiblefaron
pt	Epiblefaron
pl	Epiblefaron
cs	Epiblefaron
uk	Епіблефарон
zh	眼睑赘皮
tr	Epiblefaron

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q10.3	NTBT	index	validated
ICD-11	LA14.0Y	NTBT	index	validated
MONDO	0020461	E		validated
UMLS	C0344503	E		validated
MedDRA	10056531	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):

ORPHA:97966Rare ophthalmic disorder

Parents in the classifications (2):

ORPHA:98567Rare eyelid malposition disorder
rare developmental anomalies during embryogenesis; rare ophthalmic disorders
ORPHA:522528Rare genetic eyelid malposition disorder
rare genetic diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/99169
This record as JSON: /data/d/99169.json