Mosaic trisomy 4

Get in touch with RARE Concierge.

Contact RARE Concierge

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.

Reference: Access aggregated data from Orphanet at Orphadata.

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.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.