Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome

This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.

Epidemiology

To date, six cases have been reported in five families.

Clinical description

Dysmorphic features include asymmetrical face, unilateral narrow palpebral fissure, divergent strabismus, long philtrum, high-arched palate, apparently low-set ears and transverse ear lobe creases on both sides. Delayed language development is constant but intellectual development can be normal.

Genetic counseling

In one family, the transmission was compatible with either autosomal dominant or X-linked dominant inheritance.