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Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Disease definition

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

ORPHA:3038

Classification level: Disorder
  • Synonym(s):
    • Mehes syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: Q87.0
  • OMIM: 182875
  • UMLS: C2931119
  • MeSH: -
  • GARD: 3449
  • MedDRA: -

Summary

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.

- Last update: June 2010

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.