loading...| Preferred Name |
X-linked mandibulofacial dysostosis |
| ID |
http://www.orpha.net/ORDO/Orphanet_1131 |
| alternative_term |
Mandibulofacial dysostosis, Toriello type X-linked branchial arch syndrome X-linked mandibulofacial dysostosis with limb anomalies |
| 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. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131 |
| has_age_of_onset |
Neonatal |
| has_inheritance |
X-linked recessive |
| hasDbXref |
UMLS:C1844918 ICD-10:Q75.4 OMIM:301950 ICD-11:LD25.2 |
| label |
X-linked mandibulofacial dysostosis |
| notation |
ORPHA:1131 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_139036 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_364574 |
| prefixIRI |
ORDO:Orphanet_1131 |
| prefLabel |
X-linked mandibulofacial dysostosis |
| present_in |
Worldwide AND has_cases/families_value : 7.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_139036 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_364574 |
| subClassOf |