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Ring chromosome 19 syndrome
Disease definition
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.
ORPHA:1443
Classification level: Disorder- Synonym(s):
- Ring 19
- Ring chromosome 19
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Antenatal
- ICD-10: Q93.2
- OMIM: -
- UMLS: C0795869
- MeSH: -
- GARD: 1333
- MedDRA: -
A summary on this disease is available in Deutsch (2018) Español (2018) Français (2018) Italiano (2018) Nederlands (2018)
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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.