Search for a rare disease
Other search option(s)
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
Classification level: Disorder- Synonym(s): -
- Prevalence: Unknown
- Inheritance: -
- Age of onset: Antenatal, Neonatal
- ICD-10: Q93.2
- OMIM: -
- UMLS: C0265487
- MeSH: C537109
- GARD: 6083
- MedDRA: -
Detailed information
Article for general public
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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.