loading...| Preferred Name |
X-linked mandibulofacial dysostosis |
| Synonyms |
branchial arch syndrome X-linked X-linked mandibulofacial dysostosis with limb anomalies branchial arch syndrome, X-linked X-linked branchial arch syndrome MFD Toriello type mandibulofacial dysostosis Toriello type mandibulofacial dysostosis, X-linked mandibulofacial dysostosis, Toriello type |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0010539 |
| database_cross_reference |
OMIM:301950 GARD:0001002 Orphanet:1131 UMLS:C1844918 MESH:C537102 SCTID:719813003 |
| definition |
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. |
| exactMatch |
http://identifiers.org/snomedct/719813003 http://linkedlifedata.com/resource/umls/id/C1844918 |
| has_exact_synonym |
X-linked mandibulofacial dysostosis with limb anomalies X-linked branchial arch syndrome mandibulofacial dysostosis, X-linked mandibulofacial dysostosis, Toriello type |
| has_related_synonym |
branchial arch syndrome X-linked branchial arch syndrome, X-linked MFD Toriello type mandibulofacial dysostosis Toriello type |
| id |
MONDO:0010539 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
| label |
X-linked mandibulofacial dysostosis |
| notation |
MONDO:0010539 |
| prefLabel |
X-linked mandibulofacial dysostosis |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0002254 http://purl.obolibrary.org/obo/MONDO_0000425 |
| excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0015334 http://purl.obolibrary.org/obo/MONDO_0018237 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0002254 http://purl.obolibrary.org/obo/MONDO_0000425 |