Mosaic trisomy 5
Synonyms: Mosaic trisomy chromosome 5 | Trisomy 5 mosaicism
Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation congenital heart anomalies (mainly ventricular septal defect) multiple dysmorphic features (e.g. hypertelorism prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm agenesis of corpus callosum cloverleaf skull clinodactyly anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.
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 5?
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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.