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X-linked mandibulofacial dysostosis

Disease Summary
Associated Targets (0)

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Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0010539:  X-linked mandibulofacial dysostosis
GARD:0001002: 
MESH:C537102: 
Orphanet:1131: 
SCTID:719813003: 
UMLS:C1844918: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found