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
Newly diagnosed with
Mosaic trisomy 9?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Tracking Rare Incidence Syndromes (TRIS) project
The Tracking Rare Incidence Syndromes (TRIS) project seeks to increase the knowledge base on rare incidence trisomy conditions, and to make this information available to families and interested educational, medical and therapeutic professionals.
Clinical Trials
For a list of clinical trials in this disease area, please click here.