ORPHA:1131
X-linked mandibulofacial dysostosis
Synonyms: Mandibulofacial dysostosis, Toriello type · X-linked branchial arch syndrome · X-linked mandibulofacial dysostosis with limb anomalies
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked mandibulofacial dysostosis | Mandibulofacial dysostosis, Toriello type · X-linked branchial arch syndrome · X-linked mandibulofacial dysostosis with limb anomalies |
| fr | Dysostose mandibulo-faciale liée à l'X | Dysostose mandibulo-faciale avec anomalies des extrémités liée à l'X · Dysostose mandibulo-faciale, type Toriello · Syndrome de l'arc branchial lié à l' X |
| de | Dysostose, mandibulofaziale, X-chromosomale | Dysostose, mandibulofaziale, Typ Toriello · Kiemenbogen-Syndrom, X-chromosomales · X-chromosomale mandibulofaziale Dysostose mit Extremitätenanomalien |
| es | Disostosis mandibulofacial ligada al cromosoma X | Disostosis mandibulofacial ligada al cromosoma X con anomalías de las extremidades · Disostosis mandibulofacial tipo Toriello · Síndrome del arco branquial ligado al cromosoma X |
| it | Disostosi mandibolofacciale legata all'X | Disostosi mandibolofacciale legata all'X con difetti degli arti · Disostosi mandibolofacciale, tipo Toriello · Sindrome dell'arco branchiale legata all'X |
| nl | X-gebonden mandibulofaciale dysostose | Mandibulofaciale dysostose, Toriello-type · X-gebonden kieuwboogsyndroom · X-gebonden mandibulofaciale dysostose met ledemaatanomalieën |
| pt | Disostose mandibulofacial ligada ao X | Síndrome arco branquial ligada ao X |
| pl | Dyzostoza żuchwowo-twarzowa sprzężona z chromosomem X | Dyzostoza żuchwowo-twarzowa sprzężona z chromosomem X z anomaliami kończyn · Dyzostoza żuchwowo-twarzowa, typu Toriello · Zespół łuku skrzelowego sprzężonego z chromosomem X |
| cs | X-vázaná mandibulofaciální dysostóza | Mandibulofaciální dysostóza, Toriellové typ · X-vázaný syndrom branchiálních oblouků · X-vázaná mandibulofaciální dysostóza s anomáliemi končetin |
| uk | Х-зчеплений щелепно-лицевий дизостоз | Мандибулофаціальний дизостоз, тип Торіелло · Синдром зчепленої з Х-хромосомою гіллястої дуги · Х-зчеплений щелепно-лицевий дизостоз з аномаліями кінцівок |
| zh | X-连锁下颌面骨发育不全 | X-连锁下颌面骨发育不全伴肢体畸形 |
| tr | X'e bağlı mandibulofasiyal disostoz | X'e bağlı dallı ark sendromu · Mandibulofasiyal dizostoz, Toriello tipi · Ekstremite anomalileri ile X'e bağlı mandibulofasiyal disostoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301950 | E | validated | |
| ICD-10 | Q75.4 | NTBT | attributed | validated |
| ICD-11 | LD25.2 | NTBT | index | validated |
| MONDO | 0010539 | E | validated | |
| MeSH | C537102 | E | validated | |
| UMLS | C1844918 | E | validated | |
| GARD | 1002 | 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 (5):
- 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
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 4039890[PMID]_8465866[PMID]_12002155[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4039890[PMID]_8465866[PMID]_12002155[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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009794 | Branchial anomaly | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000218 | High palate | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000411 | Protruding ear | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0000325 | Triangular face | |
| HP:0000465 | Webbed neck | |
| Frequent (79-30%) | ||
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| Occasional (29-5%) | ||
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0004414 | Abnormality of the pulmonary artery | |
| HP:0100555 | Asymmetric growth | |
| HP:0000324 | Facial asymmetry | |
| HP:0000767 | Pectus excavatum | |
| HP:0000508 | Ptosis | |
| HP:0001642 | Pulmonic stenosis | |
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/1131
- This record as JSON: /data/d/1131.json