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Ring chromosome 21 syndrome
Disease definition
Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.
ORPHA:1445
- Synonym(s):
- Chromosome 21 en anneau
- Ring 21
- Ring chromosome 21
- Prevalence: Unknown
- Inheritance: -
- Age of onset: Antenatal, Neonatal
- ICD-10: Q93.2
- OMIM: -
- UMLS: C0265487 C2931422
- MeSH: C537109
- GARD: 6083
- MedDRA: -
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