Synonyms: Distal trisomy 11q | Telomeric duplication 11q | Trisomy 11qter
Distal trisomy 11q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 11 with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly low-set posteriorly rotated ears short philtrum micrognathia) and intellectual disability. Short stature and seizures as well as cardiac (e.g. atrial septal defect) skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity sensorineural hearing loss expressive language deficiency) and neuropsychiatric disorders (autistic features auditory hallucination self-talking) 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 April 2026
Newly diagnosed with
Distal duplication 11q?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
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.