Mosaic trisomy 14

Get in touch with RARE Concierge.

Contact RARE Concierge

Mosaic trisomy 14

Synonyms: Mosaic trisomy chromosome 14 | Trisomy 14 mosaicism

Mosaic trisomy 14 is a rare chromosomal anomaly disorder with a highly variable phenotype principally characterized by growth and developmental delay intellectual disability body asymmetry/hypotonia congenital heart defects genitourinary abnormalities (cryptorchidism micropenis large clitoris labial swelling) and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly abnormal palpebral fissure hypertelorism ear abnormalities broad nose low-set ears micro/retro-gnathia and cleft or highly arched palate.

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 Data version March 2024

Newly diagnosed with
Mosaic trisomy 14?

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

Clinical Trials

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