X-linked mandibulofacial dysostosis

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X-linked mandibulofacial dysostosis

Synonyms: Mandibulofacial dysostosis, Toriello type | X-linked branchial arch syndrome | X-linked mandibulofacial dysostosis with limb anomalies

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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