Mosaic trisomy 10
Synonyms: Mosaic trisomy chromosome 10 | Trisomy 10 mosaicism
Mosaic trisomy 10 is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by growth delay craniofacial dysmorphism (incl. prominent forehead hypertelorism upslanting palpebral fissures blepharophimosis low-set malformed large ears high arched palate cleft lip/palate retrognathia) and cardiac renal and skeletal (e.g. radial ray defects scoliosis) malformations with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies as well as facial clefts and anal atresia.
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
Newly diagnosed with
Mosaic trisomy 10?
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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
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