Ring chromosome 19 syndrome
Synonyms: Ring 19 | Ring chromosome 19
Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability developmental delay learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly prominent forehead low-set and posteriorly rotated ears hypertelorism high nasal bridge prominent philtrum retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing head banging) may also be associated. Other anomalies such as cutis laxa hearing loss syndactyly digital hypoplasia and talipes equinovarus 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
Ring chromosome 19 syndrome?
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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.
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