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Mental retardation and distinctive facial features with or without cardiac defects (MRFACD) is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia.

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It is more common in boys than girls. Individuals with this disorder often have distinctive physical features, such as a long face, large prominent ears and hyperextensible joints. People with Fragile X syndrome may experience some degree of mental retardation or learning disabilities along with speech and language delays.

Views: 61235 Date: 13.09.2019 Favorited:10
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