Rare Case Reports of Facial Asymmetry with Speech Delay and Normal Intelligence
Yes, there are documented case reports of children developing facial asymmetry with speech delay while maintaining normal intelligence, representing a rare familial syndrome first described by Mehes in 1993.
The Mehes Syndrome
The most relevant case series describes exactly this clinical triad:
- Original report: A 4-year 9-month-old boy and his 3-year 5-month-old sister presented with delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases 1
- Inheritance pattern: The same features were found in their mother (who had normal intelligence), suggesting autosomal dominant inheritance with variable expressivity 1
- Confirmation: Four additional unrelated children with delayed speech development associated with mild facial asymmetry and transverse ear lobe creases were subsequently reported, with one case proving familial 2
Key Distinguishing Features
This syndrome is characterized by:
- Speech delay without intellectual disability 1, 2
- Mild facial asymmetry (not the severe progressive atrophy seen in Parry-Romberg syndrome) 1, 2
- Transverse ear lobe creases as a distinctive marker 1, 2
- Strabismus in some cases 1
- Normal intelligence in affected individuals, including adults 1
Critical Differential Diagnoses to Exclude
When evaluating new-onset facial asymmetry with speech delay, you must systematically rule out:
Genetic Syndromes with Cognitive Impairment
22q11.2 Deletion Syndrome presents with speech delay but typically includes cognitive deficits and velopharyngeal dysfunction requiring surgical intervention 3. Communication disorders are hallmark features with both receptive and expressive language delays, often with apraxia 3.
Cardio-facio-cutaneous syndrome shows coarse facial features with intellectual disability (not normal intelligence), plus characteristic sparse, curly, friable hair and hyperkeratosis 3.
Congenital vs. Acquired Asymmetry
Hemifacial microsomia is present at birth (incidence 1 in 5,600 to 1 in 26,550 live births) and represents the second most common facial birth defect after cleft lip/palate 4. Unlike the Mehes syndrome, this is a congenital malformation affecting the ear, mandible, and soft tissue from birth 4.
Goldenhar syndrome (oculo-auriculo-vertebral spectrum) presents with facial asymmetry, microtia/anotia, and may include speech delay, but typically involves more severe craniofacial malformations including vertebral anomalies and eye abnormalities 5.
Progressive Acquired Conditions
Parry-Romberg syndrome develops postnatally as progressive hemifacial atrophy beginning in childhood, unlike congenital conditions present at birth 6. This represents true tissue loss rather than developmental asymmetry 6.
Clinical Pitfalls and Diagnostic Approach
Common mistake: Assuming all facial asymmetry with speech delay indicates intellectual disability. The Mehes syndrome specifically demonstrates that normal intelligence can coexist with these features 1, 2.
Essential examination findings to document:
- Presence or absence of transverse ear lobe creases (pathognomonic for Mehes syndrome) 1, 2
- Degree and progression of facial asymmetry (mild and stable vs. progressive) 1, 2
- Strabismus evaluation 1
- Formal cognitive/developmental testing to confirm normal intelligence 1
Genetic testing strategy: When Mehes syndrome is suspected, examine both parents for subtle facial asymmetry and ear lobe creases, as autosomal dominant inheritance with variable expressivity is documented 1, 2.
Asymmetric Crying Facies: A Related but Distinct Entity
Another rare case report describes asymmetric crying facies with microcephaly, but this family demonstrated variable expressivity including some members with normal intelligence (mother and grandmother) and others with severe mental retardation 7. This differs from Mehes syndrome by the presence of microcephaly and the crying-induced nature of the asymmetry 7.
When to Suspect Syndromic vs. Isolated Findings
Craniofacial anomalies are associated with esotropia and other strabismus types, and children with chromosomal anomalies are at higher risk for developing strabismus 3. However, isolated strabismus with facial asymmetry and speech delay in the context of normal intelligence and transverse ear lobe creases points specifically toward Mehes syndrome 1, 2.
Imaging and genetic workup: While genetic testing and imaging studies are often necessary to confirm diagnosis and rule out conditions like hemifacial microsomia or en coup de sabre 4, the clinical phenotype of Mehes syndrome is sufficiently distinctive that diagnosis can be made clinically when all features are present 1, 2.