X-linked mandibulofacial dysostosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
X-linked branchial arch syndrome mandibulofacial dysostosis, toriello type X-linked mandibulofacial dysostosis with limb anomalies |
| Number of Symptoms | 34 |
| OrphanetNr: | 1131 |
| OMIM Id: |
301950
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| ICD-10: |
Q75.4 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 7 cases [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Acrofacial dysostosis
-Rare bone disease -Rare developmental defect during embryogenesis Branchial arch or oral-acral syndrome -Rare developmental defect during embryogenesis Genetic branchial arch or oral-acral syndrome -Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit -Rare developmental defect during embryogenesis -Rare genetic disease X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Occasional [Orphanet] | 79 / 7739 | |||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000272) | Malar flattening | Very frequent [Orphanet] | 277 / 7739 | |||
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(HPO:0009794) | Branchial anomaly | Very frequent [Orphanet] | 5 / 7739 | |||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000325) | Triangular face | Very frequent [Orphanet] | 91 / 7739 | |||
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(HPO:0000286) | Epicanthus | Frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000465) | Webbed neck | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0000426) | Prominent nasal bridge | Very frequent [Orphanet] | 121 / 7739 | |||
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(HPO:0000508) | Ptosis | Occasional [Orphanet] | 459 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0000405) | Conductive hearing impairment | Very frequent [Orphanet] | 164 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0000411) | Protruding ear | Very frequent [Orphanet] | 140 / 7739 | |||
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(HPO:0001328) | Specific learning disability | 114 / 7739 | ||||
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(HPO:0000767) | Pectus excavatum | Occasional [Orphanet] | 244 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0100555) | Asymmetric growth | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0004414) | Abnormality of the pulmonary artery | Occasional [Orphanet] | 50 / 7739 | |||
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(HPO:0001641) | Abnormality of the pulmonary valve | Occasional [Orphanet] | 27 / 7739 | |||
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(HPO:0001633) | Abnormality of the mitral valve | Occasional [Orphanet] | 69 / 7739 | |||
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(HPO:0001642) | Pulmonic stenosis | 89 / 7739 | ||||
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(OMIM) | Slightly webbed neck | 1 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 | ||||
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(OMIM) | Subvalvar pulmonic stenosis | 1 / 7739 | ||||
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(OMIM) | Bilateral hearing loss | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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