Branchial arch syndrome X-linked

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Other Names: Mandibulofacial dysostosis Toriello type; MFD Toriello type 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.

NIH genetic and rare disease info[edit]

Branchial arch syndrome X-linked is a rare disease.

Rare and genetic diseases

Rare diseases - Branchial arch syndrome X-linked

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