Distal duplication 6q
Synonyms: Distal trisomy 6q | Telomeric duplication 6q | Trisomy 6qter
Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6 with highly variable phenotype typically characterized by growth and developmental delay intellectual disability craniofacial dysmorphism (microcephaly flat facial profile frontal bossing hypertelorism downward-slanting palpebral fissures flat nasal bridge anteverted nares bow shaped mouth micrognathia) short webbed neck and joint contractures. Cardiac urogenital ophthalmologic and hand and foot anomalies as well as umbilical hernia spasticity and seizures are other features that have 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 2024
Newly diagnosed with
Distal duplication 6q?
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
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
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.