Ring chromosome 4

Definition

Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.

Also known as r(4) syndrome, Ring chromosome type 4, rose cluster 4, syndrome r(4) — per MONDO

Also identified as

• MESH C537636 per MONDO
• NCIT C121983 per MONDO
• Orphanet 1447 per MONDO
• SCTID 81678004 per MONDO
• UMLS C0265407 per MONDO

Affected Organs