Orphanet: Ptosis upper ocular movement limitation absence of lacrimal punctum syndrome

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Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

Disease definition

Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.

Summary

Epidemiology

It has been described in three siblings.

Clinical description

The facial dysmorphism includes a narrow and squared forehead, low set and dysplastic ears, a relatively long philtrum, telecanthus, bilateral thick eyebrows and absence of bilateral lower medial eyelashes. The affected patients have no intellectual deficit.

Genetic counseling

The condition seems to be transmitted as an autosomal recessive trait.

- Last update: July 2010

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Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

ORPHA:228396

Summary

Epidemiology

Clinical description

Genetic counseling

A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)

Further information on this disease

Patient-centred resources for this disease

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