ORPHA:3038
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
Synonyms: Mehes syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome | Mehes syndrome |
| fr | Syndrome de retard de langage-asymétrie faciale-strabisme-incisure du lobe de l'oreille | Syndrome de Mehes |
| de | Verzögerte Sprachentwicklung-Gesichtsasymmetrie-Strabismus-Ohrmuscheldefekte-Syndrom | Mehes-Syndrom |
| es | Síndrome de retraso del habla-asimetría facial-estrabismo-incisura de lóbulo auditivo | |
| it | Linguaggio ritardato - asimmetria facciale - strabismo - pieghe sul lobo dell'orecchio | Sindrome di Mehes |
| nl | Spraakachterstand - faciale asymmetrie - strabisme - oorlelplooien-syndroom | Syndroom van Mehes |
| pt | Síndrome de atraso da linguagem-assimetria facial-estrabismo-sulcos no lóbulo auricular | Síndrome Mehes |
| pl | Opóźnienie mowy -asymetria twarzy - zez - zmarszczki płatka ucha | Zespół Mehesa |
| cs | Syndrom zahrnující opoždění řeči, faciální asymetrii, strabismus a rýhy ušního lalůčku | Mehesův syndrom |
| uk | Синдром затримки мовлення-асиметрії обличчя-косоокості-складок мочок вух | Синдром Мехеса |
| zh | 言语迟缓-面部不对称-斜视-耳垂褶综合征 | Mehes综合征 |
| tr | Gecikmiş konuşma-yüz asimetrisi-şaşılık-kulak lobu kırışıklıkları sendromu | Mehes sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182875 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0008445 | E | validated | |
| MeSH | C536146 | E | validated | |
| UMLS | C2931119 | E | validated | |
| GARD | 3449 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 16055361[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16055361[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009908 | Anterior creases of earlobe | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000577 | Exotropia | |
| HP:0000324 | Facial asymmetry | |
| HP:0000316 | Hypertelorism | |
| HP:0000369 | Low-set ears | |
| HP:0000508 | Ptosis | |
| HP:0000486 | Strabismus | |
| HP:0007946 | Unilateral narrow palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000218 | High palate | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| Occasional (29-5%) | ||
| HP:0000463 | Anteverted nares | |
Run the differential on the 9 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3038
- This record as JSON: /data/d/3038.json