Mosaic trisomy 2
Synonyms: Mosaic trisomy chromosome 2 | Trisomy 2 mosaicism
Mosaic trisomy 2 is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by intrauterine growth restriction growth and motor delay craniofacial dysmorphism (e.g. microcephaly hypertelorism micro/anophthalmia midface hypoplasia cleft lip/palate) congenital heart and neural tube defects as well as various skeletal (e.g. scoliosis radioulnar hypoplasia preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly thin corpus callosum spina bifida) have also been reported.
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 2?
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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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.