Delayed speech - facial asymmetry - strabismus - ear lobe creases
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Mehes syndrome |
| Number of Symptoms | 24 |
| OrphanetNr: | 3038 |
| OMIM Id: |
182875
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| ICD-10: |
Q87.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance X-linked dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0011331) | Hemifacial atrophy | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0007946) | Unilateral narrow palpebral fissure | 3 / 7739 | ||||
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(HPO:0000343) | Long philtrum | Frequent [Orphanet] | 262 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000324) | Facial asymmetry | 57 / 7739 | ||||
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(HPO:0000581) | Blepharophimosis | Very frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Occasional [Orphanet] | 305 / 7739 | |||
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(HPO:0000508) | Ptosis | Very frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0007687) | Unilateral ptosis | 4 / 7739 | ||||
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(HPO:0000486) | Strabismus | Very frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0000356) | Abnormality of the outer ear | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0009908) | Anterior creases of earlobe | 10 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001328) | Specific learning disability | 114 / 7739 | ||||
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(HPO:0000750) | Delayed speech and language development | 197 / 7739 | ||||
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(OMIM) | Thin zygomatic arch, unilateral | 1 / 7739 | ||||
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(OMIM) | Decreased orbital diameter, unilateral | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Decreased IQ | 3 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Mehes (1993) described a Hungarian brother and sister, aged 4 years and 9 months and 3 years and 5 months, respectively, with delayed speech development, facial asymmetry, strabismus, and a transverse earlobe crease like that seen in Beckwith-Wiedemann ... |