8q24.3 microdeletion syndrome

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8q24.3 microdeletion syndrome

Synonyms: Del(8)(q24.3) | Deletion 8q24.3 | Monosomy 8q24.3 | Verheij syndrome

A multiple congenital anomalies/dysmorphic – intellectual disability syndrome characterized by feeding problems growth retardation microcephaly developmental delay digital and vertebral anomalies joint laxity/dislocation cardiac and renal defects and dysmorphic facial features (including plagiocephaly prominent forehead bitemporal narrowing bilateral coloboma epicanthal folds malformations of the outer and middle ear wide nasal bridge anteverted nares prominent and bulbous nose tip long philtrum thin lips high and narrow palate micrognathia with prognathism/retrognathism full cheeks and short broad neck). Additional variable manifestations include obstructive apneas recurrent pneumonia and seizures.

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 May 2024

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8q24.3 microdeletion syndrome?

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