NIH Rare Diseases :
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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 Definition 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. Visit the Orphanet disease page for more resources.
MalaCards based summary :
Mehes Syndrome, also known as delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases, is related to speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease and ulnar/fibular ray defect and brachydactyly.
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