Mehes syndrome
Alternate names
Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases
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.
Inheritance
In one family, the transmission was compatible with either autosomal dominant or X-linked dominant inheritance.
Signs and symptoms
- 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.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Anterior creases of earlobe(Earlobe crease)
- Delayed speech and language development(Deficiency of speech development)
- Exotropia(Outward facing eye ball)
- Facial asymmetry(Asymmetry of face)
- Hypertelorism(Wide-set eyes)
- Low-set ears(Low set ears)
- Ptosis(Drooping upper eyelid)
- Unilateral narrow palpebral fissure
30%-79% of people have these symptoms
- Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
- High palate(Elevated palate)
- Intellectual disability(Mental deficiency)
- Long philtrum
5%-29% of people have these symptoms
- Anteverted nares(Nasal tip, upturned)
Diagnosis
Treatment
NIH genetic and rare disease info
Mehes syndrome is a rare disease.
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Mehes syndrome
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