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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
Id716199000
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified