Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction

Clinical Characteristics

Ocular Features:

The singular ocular feature found in this condition is congenital bilateral non-progressive ptosis which may improve to some extent with age. Patients usually compensate with a chin up posture. A mild paresis of upgaze and some weakness of the orbicularis oculi muscles has been described in the index case. Ocular motility is otherwise normal and Bell's phenomenon is usually present.

Systemic Features:

Patients have a wide uvula, absent or decreased gag reflexes, and rhinophonia aperta. Symptoms are nonprogressive but may improve with age or therapy. No other skeletal, neurologic, or psychomotor anomalies have been reported.

Genetics

A single 5 generation family has been reported. The transmission pattern is consistent with autosomal dominant inheritance. Heterozygous missense mutations in the TUBB6 [1] gene (18p11.21) are responsible for this condition.

Treatment

Treatment Options:

Some patients benefit from nasopharyngeal surgery to improve swallowing and speech. Ptosis surgery can also be helpful.

References

Article Title:

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction [2]

Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nurnberg G, Thoenes M, Becker J, Altmuller J, Volk AE, Kubisch C, Heller R. A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. Hum Mol Genet. 2017 Oct 15;26(20):4055-4066.

PubMed ID:

29016863