Mosaic trisomy 3
Synonyms: Mosaic trisomy chromosome 3 | Trisomy 3 mosaicism
Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity mild facial dysmorphism (e.g. long facies prominent eyes dysplastic ears downturned corners of the mouth micrognathia) and no developmental delays to more severe phenotypes including short stature intellectual disability severe developmental delays additional craniofacial dysmorphic features (e.g. brachycephaly high forehead flat midface short neck) and hearing impairment as well as skeletal (e.g. pectus excavatum scoliosis) ocular (e.g. coloboma) and cardiac abnormalities.
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 December 2023
Newly diagnosed with
Mosaic trisomy 3?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.