Trisomy 12p

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Duplication 12p

A partial autosomal trisomy characterized by developmental delay and intellectual disability generalized hypotonia postnatal growth retardation variable brain and heart anomalies and dysmorphic features including frontal bossing round face full cheeks low-set ears broad nasal bridge short nose with anteverted nares long philtrum thin upper lip vermilion and everted thick lower lip. Unspecific associated congenital anomalies have also been reported.

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 June 2024

Newly diagnosed with
Trisomy 12p?

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

Don't see your organization here. Let us know here.

Clinical Trials

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