Question

A 10-year-old female presents with bilateral severe congenital ptosis. Enumerate few possible syndromic associations.

Hint:

Congenital ptosis may be associated with syndromes such as BPES, Marcus Gunn syndrome, and neurofibromatosis type 1, which require specific management considerations.

Answer 1

Step 1: Syndromic Associations with Congenital Ptosis.
Congenital ptosis can be associated with several syndromes, including:
(1) Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES):
- Characterized by ptosis, narrow palpebral fissures, epicanthus inversus, and in some cases, ovarian dysfunction (BPES type 1).
(2) Marcus Gunn Jaw-Winking Syndrome:
- A rare condition where ptosis is associated with a synkinetic response, causing the ptotic eyelid to lift when the patient moves their jaw.
(3) Congenital Myasthenia Gravis:
- In some cases, ptosis may be associated with myasthenia gravis, which causes weakness of the eyelid muscles and can worsen throughout the day.
(4) Craniofacial Syndromes: - Goldenhar Syndrome and Crouzon Syndrome can present with ptosis alongside other craniofacial abnormalities.
(5) Neurofibromatosis Type 1 (NF1):
- Ptosis can occur in NF1, which is often accompanied by optic gliomas and other ocular and skin manifestations.