MMEP syndrome
Synonyms: MCOPS8 · Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome · Syndromic microphthalmia type 8 · Viljoen-Smart syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (<i>SNX3</i>; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MMEP syndrome | MCOPS8 · Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome · Syndromic microphthalmia type 8 · Viljoen-Smart syndrome |
| fr | Syndrome MMEP | MCOPS8 · Microphtalmie syndromique type 8 · Syndrome de Viljoen-Smart · Syndrome de microcéphalie-microphtalmie-ectrodactylie des membres inférieurs-prognathisme |
| de | MMEP-Syndrom | MCOPS8 · Microcephaly - Mikrophthalmie - Ektrodaktylie der unteren Extremitäten - Prognathie · Mikrophthalmie, syndromale, Typ 8 · Viljoen-Smart-Syndrom |
| es | Síndrome MMEP | Microcefalia-microftalmia-ectrodactilia de extremidades inferiores-prognatismo · Microftalmia sindrómica tipo 8 · Síndrome de Viljoen-Smart |
| it | Sindrome MMEP | MCOPS8 · Microcefalia - microftalmia - ectrodattilia degli arti inferiori - prognatismo · Microftalmia sindromica, tipo 8 · Sindrome di Viljoen-Smart |
| nl | MMEP-syndroom | MCOPS8 · Microcefalie - microftalmie - ectrodactylie van onderste ledematen - prognathie-syndroom · Syndromale microftalmie type 8 · Syndroom van Viljoen-Smart |
| pt | Síndrome MMEP | MCOPS8 · Microftalmia sindrómica tipo 8 · Síndrome Viljoen-Smart · Síndrome de microcefalia-microftalmia-ectrodactilia dos membros inferiores-prognatismo |
| pl | Zespół MMEP | Małogłowie - małoocze - ektrodaktylia kończyn dolnych - prognatyzm · MCOPS8 · Syndromiczne małoocze typu 8 8 · Zespół Viljoena i Smarta |
| cs | MMEP syndrom | MCOPS8 · Syndromická mikroftalmie, typ 8 · Syndrom zahrnující mikrocefalii, mikroftalmii, ektrodaktylii dolních končetin a prognatii · Viljoenův-Smartův syndrom · Viljoen-Smartův syndrom |
| uk | Синдром ММЕР | MCOPS8 · Синдром мікроцефалії-мікрофтальмії-екстродактилії нижніх кінцівок- прогнатизму · Синдромна мікрофтальмія типу 8 · Синдром Вілджоена-Смарта |
| zh | MMEP综合征 | 小头-小眼-先天性下肢缺指-凸颌综合征 |
| tr | MMEP sendromu | MCOPS8 · Viljoen-Smart sendromu · Sendromik mikroftalmi tip 8 · Alt ekstremite mikrosefali-mikroftalmi-ektrodaktili-öne çıkık çene sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601349 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD21.0 | NTBT | index | validated |
| MONDO | 0011045 | E | validated | |
| MeSH | C537686 | E | validated | |
| UMLS | C1832440 | E | validated | |
| GARD | 3693 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- 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:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000161 | Median cleft lip | |
| HP:0000252 | Microcephaly | |
| HP:0000568 | Microphthalmia | |
| HP:0000202 | Orofacial cleft | |
| HP:0001839 | Split foot | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3434
- This record as JSON: /data/d/3434.json