Mosaic trisomy 4
Synonyms: Mosaic trisomy chromosome 4 | Trisomy 4 mosaicism
Mosaic Trisomy 4 is a rare autosomal anomaly due to the presence of an extra copy of chromosome 4 in a fraction of all cells with a variable phenotype characterized by intrauterine growth retardation low birth weight/length/OFC mild intellectual deficit congenital heart defects hypertrophic cardiomyopathy dysmorphic features (asymmetry of the face eyebrow anomalies low-set posteriorally rotated dysplastic ears micro-/retrognathia) characteristic thumb abnormalities (aplasia hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be 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 December 2023
Newly diagnosed with
Mosaic trisomy 4?
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.