Familial congenital nasolacrimal duct…

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Familial congenital nasolacrimal duct obstruction

ORPHA:451612Morphological anomaly

What it is

A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal drainage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Antenatal, Neonatal
Inheritance
Autosomal recessive
Classified as
Morphological anomaly

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

IGSF3Disease-causing germline mutation(s)

ICD-10 codes

Q10.5filed under a broader ICD-10 category

Cross-references

MONDO 0007871OMIM 149700UMLS C5681101

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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