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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Mosaic trisomy 5?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
For a list of clinical trials in this disease area, please click here.