3MC syndrome
Synonyms: Craniofacial-ulnar-renal syndrome · Malpuech-Michels-Mingarelli-Carnevale syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3MC syndrome | Craniofacial-ulnar-renal syndrome · Malpuech-Michels-Mingarelli-Carnevale syndrome |
| fr | Syndrome 3MC | Syndrome Malpuech-Michels-Mingarelli-Carnevale · Syndrome cranio-facio-cubito-rénal |
| de | 3MC-Syndrom | Kranio-fazio-ulnar-renales Syndrom · Malpuech-Michels-Mingarelli-Carnevale-Syndrom |
| es | Síndrome 3MC | Síndrome craneofacial-cubital-renal · Síndrome de Malpuech-Michels-Mingarelli-Carnevale |
| it | Sindrome 3MC | Sindrome craniofacciale-ulnare-renale |
| nl | 3MC-syndroom | Craniofaciaal-ulnair-renaal syndroom · Syndroom van Malpuech-Michels-Mingarelli-Carnevale |
| pt | Síndrome craniofacial-cubital-renal | Síndrome 3MC |
| pl | Zespół 3MC | Zespół czaszkowo-twarzowo-łokciowo-nerkowy · Zespół Malpuecha, Michelsa, Mingarelli i Carnevale'a |
| cs | 3MC syndrom | Kraniofaciální, ulnární a renální syndrom |
| uk | Синдром 3MC | Черепно-лицьово-запястково-нирковий синдром · Синдром Мальпуека-Міхельса-Мінгареллі-Карневале |
| zh | Malpuech-Michels-Mingarelli-Carnevale综合征 | Malpuech-Michels-Mingarelli-Carnevale综合征 |
| tr | 3MC sendromu | Kraniyofasiyal-ulnar-renal sendrom · Malpuech-Michels-Mingarelli-Carnevale sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248340 | BTNT | validated | |
| OMIM | 257920 | BTNT | validated | |
| OMIM | 265050 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0017398 | E | validated | |
| UMLS | C4303860 | E | validated | |
| GARD | 1118 | 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:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2453Malpuech syndrome moved to · inactive
- ORPHA:2506Michels syndrome moved to · inactive
- ORPHA:2998Carnevale syndrome moved to · inactive
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COLEC11 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17213 | ENSG00000118004 | 612502 | 2p25.3 | collectin subfamily member 11 | 21258343[PMID] |
| MASP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6901 | ENSG00000127241 | 600521 | 3q27.3 | MBL associated serine protease 1 | 21258343[PMID] |
| COLEC10 | Disease-causing germline mutation(s) in | Assessed | HGNC:2220 | ENSG00000184374 | 607620 | 8q24.12 | collectin subfamily member 10 | 28301481[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | 21258343[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21258343[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.
HPO phenotypes
30 annotations · validated 2017-01-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000537 | Epicanthus inversus | |
| HP:0000365 | Hearing impairment | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0006394 | Limited pronation/supination of forearm | |
| HP:0000508 | Ptosis | |
| HP:0002974 | Radioulnar synostosis | |
| Frequent (79-30%) | ||
| HP:0000593 | Abnormal anterior chamber morphology | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0000581 | Blepharophimosis | |
| HP:0001363 | Craniosynostosis | |
| HP:0001540 | Diastasis recti | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0003307 | Hyperlordosis | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0002265 | Large fleshy ears | |
| HP:0000202 | Orofacial cleft | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002650 | Scoliosis | |
| HP:0003298 | Spina bifida occulta | |
| HP:0002558 | Supernumerary nipple | |
| HP:0000506 | Telecanthus | |
| Occasional (29-5%) | ||
| HP:0005105 | Abnormal nasal morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0002825 | Caudal appendage | |
| HP:0002827 | Hip dislocation | |
| HP:0000369 | Low-set ears | |
| HP:0040016 | Prominent coccyx | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 16096999[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293843
- This record as JSON: /data/d/293843.json