Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | | Mehes syndrome | | Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome
| | This syndrome is extremely rare and has characteristics of 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. | | syndroom van vertraagde spraakontwikkeling, asymmetrie van aangezicht, strabismus en plooi in oorlel | | syndroom van vertraagde spraakontwikkeling, asymmetrie van aangezicht, scheelzien en plooi in oorlel syndroom van Mehes syndroom van vertraagde spraakontwikkeling, asymmetrie van aangezicht, strabisme en plooi in oorlel
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| Id | 716199000 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | Q87.0 | Rule | TRUE | Advice | ALWAYS Q87.0 | Correlation | SNOMED CT source code to target map code correlation not specified |
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