Mosaic trisomy 9

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Mosaic trisomy 9

Synonyms: Mosaic trisomy chromosome 9 | Trisomy 9 mosaicism

Mosaic trisomy 9 is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by intellectual disability growth and developmental delay facial dysmorphism (incl. microphthalmia deep-set eyes low-set malformed ears bulbous nose high-arched palate micrognathia) and congenital heart defects (e.g. ventricular septal defect) as well as urogenital (e.g. hypoplastic genitalia cryptorchidism) skeletal (congenital joint dislocations or hyperflexion scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.

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 April 2024

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Mosaic trisomy 9?

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