X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

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Synonyms: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay intellectual disability and dysmorphic facial features (such as facial asymmetry prominent forehead short palpebral fissures low nasal bridge smooth and long philtrum thin upper lip and low-set posteriorly rotated dysplastic ears) exclusively affecting females. Additional reported manifestations include short stature choanal atresia scoliosis congenital ocular dental cardiac and urogenital anomalies as well as hypotonia seizures and structural brain abnormalities among others.

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 June 2024

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