Distal duplication 4q
Synonyms: Distal trisomy 4q | Telomeric duplication 4q | Trisomy 4qter
Distal trisomy 4q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 4 with highly variable phenotype typically characterized by psychomotor delay intellectual disability craniofacial dysmorphism (microcephaly low-set prominent ears downslanting palpebral fissures hypertelorism epicanthic folds broad prominent nasal bridge high arched and cleft palate micro-/retrognathia) seizures as well as tooth and digital anomalies (clinodactyly polydactyly). Cardiac malformations renal anomalies cryptorchidism hypotonia and hearing impairment have also been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Distal duplication 4q?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
For a list of clinical trials in this disease area, please click here.