ORPHA:79113
Mandibulofacial dysostosis-microcephaly syndrome
Synonyms: MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic, multiple congenital malformation syndrome characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism (with significantly overlap to Treacher Collins syndrome), developmental delay, and intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mandibulofacial dysostosis-microcephaly syndrome | MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type |
| fr | Syndrome de dysostose mandibulo-faciale-microcéphalie | Syndrome MFDM |
| de | Mandibulo-faziale Dysostose-Mikrozephalie-Syndrom | Kleinwuchs - Intelligenzminderung - mandibulo-faziale Dysostose - Mikrozephalie - Gaumenspalte · MFDM-Syndrom · Mandibulo-faziale Dysostose Typ Guion-Almeida |
| es | Síndrome de disostosis mandibulofacial-microcefalia | Disostosis mandibulofacial tipo Guion-Almeida · Síndrome MFDM |
| it | Sindrome disostosi mandibolofacciale-microcefalia | Disostosi mandibolofacciale, tipo Guion-Almeida · Ritardo della crescita - deficit cognitivo - disostosi mandibolofacciale - microcefalia - palatoschisi · Sindrome MFDM |
| nl | Mandibulofaciale dysostose - microcefalie-syndroom | MFDM-syndroom · Mandibulofaciale dysostose, Guion-Almeida-type |
| pt | Síndrome de disostose mandibulo-facial-microcefalia | Disostose mandibulo-facial, tipo Guion-Almeida · Síndrome MFDM |
| pl | Dyzostoza żuchwowo-twarzowa, typ Guiona i Almeida | MFDM syndrome · Zespół MFDM |
| cs | Syndrom zahrnující mandibulofaciální dysostózu a mikrocefalii | MFDM syndrom · Mandibulofaciální dysostóza, Guion-Almeidové typ · Syndrom zahrnující opožděný růst, mentální retardaci, mandibulofaciální dysostózu, mikrocefalii a rozštěp patra |
| uk | Синдром щелепно-лицевого дизостозу-мікроцефалії | Мандибулофаціальний дизостоз, тип Гійона-Алмейда · Синдром MFDM |
| zh | 颌面部发育不良-小头畸形综合征 | 颌面骨发育不良，Guion-Almeida型 |
| tr | Mandibulofasiyal disostoz-mikrosefali sendromu | MFDM sendromu · Mandibulofasiyal dizostoz, Guion-Almeida tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610536 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0012516 | E | validated | |
| MeSH | C537405 | E | validated | |
| UMLS | C1864652 | E | validated | |
| GARD | 10056 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:364574Acrofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - 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:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EFTUD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30858 | ENSG00000108883 | 603892 | 17q21.31 | elongation factor Tu GTP binding domain containing 2 | 22305528[PMID]_24999515[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 107 cases | Worldwide | Case(s) | Validated | 26507355[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26507355[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.
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HPO phenotypes
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009738 | Abnormality of the antihelix | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0011268 | Absent tragus | |
| HP:0000175 | Cleft palate | |
| HP:0000750 | Delayed speech and language development | |
| HP:0011968 | Feeding difficulties | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0008609 | Morphological abnormality of the middle ear | |
| HP:0000384 | Preauricular skin tag | |
| HP:0005484 | Secondary microcephaly | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0000243 | Trigonocephaly | |
| HP:0011272 | Underdeveloped tragus | |
| HP:0000582 | Upslanted palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0000191 | Accessory oral frenulum | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000286 | Epicanthus | |
| HP:0009748 | Large earlobe | |
| HP:0000396 | Overfolded helix | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0000506 | Telecanthus | |
| Occasional (29-5%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79113
- This record as JSON: /data/d/79113.json