Ring chromosome 7

Definition

Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).

Also known as Ring chromosome type 7, rose cluster 7 — per MONDO

Also identified as

• MESH C537813 per MONDO
• NCIT C121986 per MONDO
• Orphanet 1449 per MONDO
• SCTID 765489006 per MONDO
• UMLS C2931622 per MONDO

Affected Organs