Trisomy 12p
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 October 2023.
Newly diagnosed with
Trisomy 12p?
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Advocacy Organizations
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.