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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 3038
This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.
To date, six cases have been reported in five families.
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.
In one family, the transmission was compatible with either autosomal dominant or X-linked dominant inheritance.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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