Ring chromosome 6

Definition

Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.

Also known as Chromosome 6 Ring, Ring chromosome type 6, rose cluster 6 — per MONDO

Also identified as

• MESH C537763 per MONDO
• NCIT C121985 per MONDO
• Orphanet 1448 per MONDO
• SCTID 765488003 per MONDO
• UMLS C0795814 per MONDO

Affected Organs